Radiological Features Research Articles

Forget About Memory: Disentangling the Amnestic Syndrome in Idiopathic Normal Pressure Hydrocephalus.

Idiopathic normal pressure hydrocephalus (iNPH) can present with both episodic amnestic syndrome and biomarkers of Alzheimer's disease (AD) pathology. To examine the associations between amnestic syndrome and cerebrospinal fluid (CSF) AD biomarkers in iNPH and the CSF tap test response in iNPH patients with amnestic syndrome. We used the Free and Cued Selective Reminding Test to divide iNPH into amnestic and non-amnestic patients. We compared their clinical, biological, and radiological characteristics and examined the reversibility of gait spatiotemporal parameters and neuropsychological performances after a CSF tap test. Univariate and multiple linear regression models examined the association between memory performance and clinical-biological characteristics. Sixty-two non-amnestic patients (mean age 77.0±7.0 years, 38.7% female) and thirty-eight amnestic patients (mean age 77.0±5.9 years, 36.8% female) presented similar levels of AD biomarkers and clinical-radiological profiles. Global cognition and education levels were lower in the amnestic iNPH group. We found no association between AD biomarkers and memory performances (total tau: β= -4.50; 95% CI [-11.96;2.96]; p = 0.236; amyloid-β (1-42): β= 8.60, 95% CI [-6.30;23.50]; p = 0.240). At baseline, amnestic iNPH patients performed worse on executive functions, attention, and gait speed but improved similarly to the non-amnestic iNPH patients after the tap test. In our clinical sample of iNPH patients, we confirm the lack of specificity of the amnestic profile for predicting AD pathology. Clinicians should not preclude amnestic iNPH patients from undergoing an invasive procedure of CSF derivation.

Long term outcomes of pituitary adenomas in Multiple Endocrine Neoplasia type 1: a nationwide study.

Historically, Multiple Endocrine Neoplasia type 1 (MEN1)-related pituitary adenomas (PAs) were considered more aggressive and treatment-resistant than sporadic PAs. However, recent studies suggest similarities in their behavior. This study aimed to evaluate the long-term outcomes of MEN1 PAs and identify predictive factors. Nationwide multicenter retrospective cohort study of MEN1-related PAs with a minimum 1-year follow-up, collecting patient demographics, germline MEN1 pathogenic variants (PV), PA size, secretory profile, radiological characteristics, treatments, and outcomes. We analyzed 84 PAs, 69%in females and 31% in males (P<0.001), diagnosed at a mean age of 35.2±14.9 years, mostly through screening (60.7%). Median follow-up was 9 years (IQR:4-16). Prolactin-secreting PAs (PRLomas) (53.5%) and microadenomas (65.5%) were most common. Dopamine agonist treatment was first line for 16 macroPRLomas and 25 microPRLomas, 60.9% of them achieved PRL normalization. There was no significant association observed with tumor size, sex, treatment duration or MEN1 PV. The risk of progression from micro-PA to invasive macro-PA was 7.2% (4/55), after 8 years (IQR:4-13), all of them were microPRLomas. Kaplan-Meier estimation curve showed significantly higher progression probability in microPRLomas than in other microadenomas subtypes (P=0.017) or microNFPAs (P=0.032). No differences were found between sex, age, or germline MEN1 PV. MEN1-related micro-PAs have a low risk of progressing to invasive macro-PAs, regardless of sex, age at diagnosis, or MEN1 germline PV. The risk is higher for microPRLomas over the long term. Therefore, long-term surveillance with reduced frequency, rather than intensive short-term monitoring, may be appropriate for patients with MEN1-related PAs.

A Decade of Insights into Bilateral Adrenal Masses: Epidemiology, Clinical Profiles, and Therapeutic Approaches

Bilateral adrenal masses (BAMs) are rare, accounting for 10-15% of adrenal masses. Their diagnostic and therapeutic approaches differ from those of unilateral masses. This study aimed to analyze the epidemiological, clinical, paraclinical, and therapeutic profiles of BAMs. It is based on a retrospective analysis of 30 patient records from the Endocrinology, Diabetology, and Nutrition Department at CHU Hassan II in Fez, over a 12-year period. The average age of the patients was 53 years, with a male predominance (53.3%). BAMs were symptomatically revealed in 46.7% of cases, incidentally discovered in 23.3%, identified during tumor staging in 20%, and associated with a genetic syndrome in 10% of cases. Clinical examination revealed hypertension in 23.3% of patients, an abdominal mass in 10%, signs of adrenal insufficiency in 10%, hypercortisolism in 6.67%, and hyperandrogenism in 16% of cases. Biological assessment showed elevated urinary or plasma metanephrine derivatives in 9 patients, hypercortisolism in 3 patients, adrenal insufficiency in 3 patients, 11-β-hydroxylase enzyme block in 3 patients, and primary hyperaldosteronism in 1 patient. Adrenal computed tomography (CT) was performed in 29 patients. A staging workup, including PET scan, was requested in 20% of cases. MIBG scintigraphy was performed in 23.3% of patients. The investigations revealed 53% of BAMs were secreting and 47% non-secreting. There were 9 cases of pheochromocytomas, including 5 associated with a syndrome (3 MEN2a, 1 MEN2b, 1 VHL), 8 cases of non-secreting adenomas, 3 cases of congenital adrenal hyperplasia due to 11-β-hydroxylase enzyme block, 2 cases of adrenal metastases, 2 cases of adrenocortical carcinoma, 2 cases of adrenal cysts, 1 case of Conn’s adenoma, 1 case of cortisol-secreting adenoma, 1 case of primary adrenal lymphoma, and 1 case of adrenal hematoma. Treatment included the management of emergencies and preoperative preparation for patients eligible for surgery. Bilateral adrenalectomy was performed in 33.3% of patients, and unilateral adenectomy in 1 case of cortisol-secreting adenoma. Medical treatment was initiated in 16.6% of cases, and palliative treatment in 13.33% of cases. Surveillance alone was implemented in the remaining 33.3%. Prognosis depends on the type of adrenal mass, with outcomes marked by the death of one case of malignant adrenocortical carcinoma and one case of primary adrenal lymphoma. Our study, involving 30 cases of BAMs, highlights their clinical, biological, radiological, therapeutic, and prognostic characteristics. Data in the literature are limited compared to unilateral adrenal masses. Future larger studies are desirable for optimal management.

The utility of PET-CT in baseline and sequential characterisation of Pulmonary Pleomorphic Carcinoma

Pulmonary Pleomorphic Carcinomas (PPCs) represent a rare and aggressive subtype of Non-Small Cell Lung Cancer (NSCLC) that can only be definitively diagnosed on a surgical specimen. This study utilised PET-CT to evaluate radiological characteristics of PPCs. This study retrospectively evaluated the radiological characteristics of PCCs diagnosed in St James’s Hospital Dublin between 2012-2023. Computed Tomography (CT) and Positron Emission Tomography (FDG-PET) imaging features (size, location, density, shape, invasion, and growth kinetics) and standard uptake value for each lesion were evaluated. 39 PCCs were identified with a mean age of 66.5 years (range: 49-82 years). FDG-PET was performed in all 39 cases. Tumours demonstrated a high FDG uptake at baseline with a mean (SUV) of 12.6 (range: 1.4 - 36.9). A second interval PET-CT on average 3.3 months after the first in 3 cases demonstrated over 120% increase in SUV. The mean tumour size was 4.3 cm (range: 1.0 - 14.5 cm). Tumours developed rapid interval growth, reaching a mean maximum diameter of 6.6 cm (53.4%) within a mean of 2.1 months. Tumours were predominantly located in the upper lobe (71.8 %) and displayed necrotic features in 53.8 % of cases. 82.1% of tumours invaded the mediastinum. This study describes the largest cohort of Pulmonary Pleomorphic Carcinoma in the literature. Tumours demonstrate a high SUV on baseline imaging and demonstrate rapid growth on interval imaging and central necrosis. Please click on the 'PDF' for the full abstract!

Poorly differentiated chordoma: recognising this complex and rare aggressive tumour with characteristic immunohistochemical profile.

Poorly differentiated chordoma (PDC) is an uncommon subtype of chordoma, distinct in its occurrence in paediatric age group, location, variable epithelioid/rhabdoid/spindled histomorphology and the lack of physaliphorous cells (classical of chordoma) and immunohistochemistry (INI-1 loss, brachyury positive). We describe two cases of PDC. A3-year-old male and 4-year-old female child presented with neck stiffness and infiltrating tumour involving the skull base and upper cervical vertebral segments. Histopathology showed a tumour with sheets of cells having epithelioid to rhabdoid morphology and absence of physaliphorous cells. The tumour cells were positive for pan-cytokeratin, EMA, CD99 and vimentin and showed loss of INI-1 suggesting differentials of epithelioid sarcoma and atypical teratoid/rhabdoid tumour. On careful review of the clinical, radiological and pathological features, the additional immunohistochemistry for brachyury was performed, and its positivity clinched the diagnosis of PDC. Both the patients succumbed within a short span post-surgery. The present case study helps in creating an awareness and attempts to expand our knowledge in relation to the spectrum of chordoma (clinico-histological) and its immunohistochemical profile.

Meningioma: Not necessarily benign and progress in its treatment.

Meningiomas are not always benign tumours and are considered quite common primary intracranial tumours. They can represent Grade I to Grade III differentiation with varied outcomes and threats. For most low-grade asymptomatic and benign meningiomas, radiological surveillance is a go-to treatment option. In other grades, treatment options vary from surgical resection of the affected area to adjuvant radiotherapy, especially in the grade III cases. Therefore, this report takes on an approach of reviewing different literature on various treatment options and strategies by taking into consideration radiological, molecular and clinical characteristics of meningiomas.

Differentiating between Lymphoma and Metastasis Presenting as Solid Cerebellar Mass Lacking Necrosis

Objectives: This study aimed to identify radiologic features that differentiate lymphoma from metastasis manifesting as a solid enhancing mass lacking necrosis in the cerebellum. Methods: Pathologically confirmed 24 primary central nervous system lymphoma (PCNSL) and 32 metastasis patients with solid enhancing cerebellar masses without necrotic or hemorrhagic components were retrospectively analyzed. We evaluated the imaging characteristics using contrast-enhanced magnetic resonance imaging (MRI). The serrate sign was defined as a tumor spreading along white matter with branch-like enhancement or outward spikes. Results: The serrate sign was exclusively identified in the PCNSL group, showing a significant difference compared to the metastasis group (75.0% vs. 0%, p &lt; 0.001). Homogeneous enhancement occurred more frequently in PCNSL than in metastasis (91.7% vs. 21.9%, p &lt; 0.001). Conversely, bulging contour (62.5% vs. 4.2%, p &lt; 0.001) and surface involvement (71.9% vs. 29.2%, p = 0.003) were more prevalent in metastasis than PCNSL. For predicting PCNSL, the serrate sign demonstrated 75.0% sensitivity, 100% specificity, 100% positive predictive value, 84.2% negative predictive value, and 89.3% accuracy. Conclusions: This study found that the serrate sign and homogeneous enhancement are reliable MRI features for differentiating cerebellar PCNSL from metastasis, whereas a bulging contour and surface involvement suggest metastasis. The serrate sign demonstrated diagnostic significance in differentiating PCNSL from metastasis.

6453 Cushing Syndrome And Bilateral Adrenal Incidentalomas In A Patient With Mucopolysaccharidosis

Abstract Disclosure: D. John: None. M. Kinaan: None. TITLE Cushing Syndrome &amp; Bilateral Adrenal Incidentalomas in a patient with Mucopolysaccharidosis Affiliation of Authors Dieula John M.D., M.B.A.,a,b Mustafa Kinaan M.D.,a,baEndocrinology, Diabetes, and Metabolism Fellowship, UCF HCA Healthcare GME, Orlando, FL. bDepartment of Internal Medicine, UCF College of Medicine, Orlando, FL. This research was supported (in whole or in part) by HCA Healthcare and/or an HCA Healthcare affiliated entity. The views expressed in this publication represent those of the author(s) and do not necessarily represent the official views of HCA Healthcare or any of its affiliated entities. Introduction: Mucopolysaccharidoses (MPS) is a group of hereditary and incurable storage diseases characterized by a deficiency of enzymes involved in the metabolism of glycosaminoglycans (GAGs) at the lysosomal level. MPS are usually inherited in autosomal recessive or x-linked pattern. MPS affects functioning of the cells, tissues and organs where the GAGs products typically accumulate. This can result in neurologic, developmental, and neoplastic issues. While endocrine disturbances in MPS have been reported, the literature on hypercortisolism and adrenal masses in MPS is limited. We present a case of a patient with MPS diagnosed with Cushing Syndrome (CS) as part of evaluation for adrenal incidentalomas. Case Description: A 50 year old male with a medical history of MPS, DVT, and developmental delay presented to our clinic accompanied by his mother for evaluation of adrenal incidentalomas. CT abdomen incidentally showed a left adrenal non-calcified, non-hemorrhagic mass measuring 3.9 x 3.6 cm with a pre-contrast attenuation of 45 Hounsfield units. Delayed washout was not obtained, and washout calculation couldn’t be performed. These radiologic features were suspicious for malignancy. Repeat CT with adrenal protocol showed left adrenal mass measuring 4.5 x 3.9 cm with central necrosis, unenhanced attenuation of 42 HU, and no drop-in attenuation on delayed phase indicating poor absolute and relative washout. There was also a right adrenal mass measuring up to 2.2 cm 54.5% absolute washout and 39.0% relative washout. Biochemical workup showed no pheochromocytoma, hyperaldosteronism, or adrenal hyperandrogenism. However, his dex suppression test was consistent with ACTH-independent CS. The patient was referred to an endocrine surgeon. We anticipate more information to be available based on the pathology of the excised tumor following his urgent surgery. Conclusion: MPS diseases are extremely rare and their effects on the endocrine system in general, and the adrenal gland specifically, is limited. Our case would serve as the first reported case of CS in MPS patient based on our literature search. In addition, we’ll discuss the pathology findings once the tumor is excised and highlight the connection between the adrenal mass and this lysosomal storage disease. Presentation: 6/3/2024

7673 Genetic Analysis and Clinical Characterization of Patients with Congenital Hypopituitarism Due to Gene Defects

Abstract Disclosure: T.M. Sasson: None. I.J. Arnhold: None. B.B. Mendonca: None. L.R. Carvalho: None. Introduction: Congenital hypopituitarism is characterized by the deficiency of one or more hormones secreted by the anterior pituitary gland. The genetics of this pathology is complex, and the molecular diagnosis is established in approximately 13% of cases. Objectives: The aim of the present study is to characterize the phenotype harboring pathogenic variants causing congenital hypopituitarism. Methods: Among 393 subjects with congenital hypopituitarism followed up at a tertiary health center, 57 subjects (14,5%) were selected due to a confirmed molecular diagnosis by exome in 9 subjects or by gene panel or Sanger sequencing in 48 subjects. This was a retrospective study where data from medical records, clinical, laboratory and radiological characteristics were analyzed. Results: The most frequent variants identified by sequencing analyzes were in the following genes: PROP1 (29.8%), GH1 (22.8%), GHRHR (15.7%), followed by GLI2, OTX2, HESX1, POU1F1, TGIF1, GHRS, CDH2, SATB1, SOX3 e LZTR1. Consanguinity was reported in 50% of cases, and there was the presence of familial cases of short stature in 60%. The average age at the start of follow-up was 11.1 years (11 SD), 40% of them were male and 52.3% had physical stigmata typical of GH deficiency. Regarding hormonal deficiencies, 27 (47%) had isolated Growth Hormone Deficiency (DGHI) and the others, multiple deficiencies. MRI study of the pituitary gland showed some alteration in 66%, 54% of whom had adenohypophysis hypoplasia and 31% had an ectopic or non-visualized neurohypophysis. From 29 patients with IGF-1 levels available, 28 were below the reference range for sex and age. The serum GH peak after the stimulus test was on average 1.28 ng/mL (1.4SD), of these, only 4 cases had GH peak between 3.3 and 5.0 ng/mL and 1 patient with low IGF-1 and an ectopic neurohypophysis had GH peak of 6.0 ng/mL in a glucagon test. Regarding growth, the initial height in z-score was -4.8 and the average growth at the end of the first year of treatment was 10.7cm, with the average height after this period of Z-3.35. The average of final delta target height (final height Z-score minus the target height Z-score) of patients who underwent hormonal treatment was -0,53 (good response = delta &amp;lt;-1.5). Conclusion: In subjects with congenital hypopituitarism and an established molecular diagnosis, the most frequently affected genes were PROP1 and GH1, the great majority presented a stimulated GH peak &amp;lt; 3.3 ng/mL (only one patient had GH &amp;gt; 5), low basal serum IGF-1 and good increase in growth speed at the end of the first year of treatment with recovery of final height at the end of GH therapy. Presentation: 6/3/2024

7428 Clinical and Radiological Characterization and Outcomes of Lipid-Poor Adrenal Masses- A Multi-Center Retrospective Study

Abstract Disclosure: V. Balderrama-Brondani: None. R. Al-ward: None. K. Kiseljak-Vassiliades: None. L.M. Fishbein: None. D.A. Kirelik: None. O. Hamidi: None. R. Pishdad: None. H.K. Ghayee: None. M. Sukkari: None. S.S. Bedrose: None. A.H. Hamrahian: None. M.A. Habra: None. Background: Lipid-poor adrenal masses (LPAMs) with pre-contrast radiodensity &amp;gt;10 Hounsfield Units (HU) on computed tomography (CT) represent ∼25% of adrenal tumors. There is limited data about the natural history of LPAMs; therefore, we evaluated a large series of patients with LPAMs to describe the radiological and clinical features and outcomes of these cases. Methods: We conducted a multi-center retrospective cohort study of patients with LPAMs with a baseline diameter of 10-39 mm and derived from 6 institution members of the American-Australian-Asian Adrenal Alliance (A5). We excluded suspected or proven adrenal metastasis, pheochromocytoma, sarcoma, lymphoma, myelolipoma, infiltrative lesions, and adrenal hemorrhage, as well as patients with personal/familial history of genetic predisposition to adrenal neoplasms. The data is presented in percentage and median (range). Results: A total of 242 adrenal masses from 218 patients were evaluated, but only 225 (93%) masses met the inclusion criteria and were analyzed. The age was 58 (23-92), and 61% were women. LPAMs were incidentally discovered in 155 (71.1%) cases, 32 (14.7%) cases were diagnosed due to hormonal overproduction, and 17 (7.8%) due to pain/mass effect. Forty-six (21.1%) patients were on surveillance for a history of extra adrenal malignancy. Masses were unilateral in 89.9% (left side, 57.1%), with size 21 (10-38) mm, with a pre-contrast density of 24 (11-136) HU. Absolute washout was reported in 107 LPAMs and was &amp;gt;60% in 73 (68.2%) cases. The follow-up time was 44.4 (0.9-241) months. Hormonal overproduction developed during the follow-up in 23 (10.5%) cases as follows: cortisol in 15 (6.9%), aldosterone in 4 (1.8%), and sex hormones in 3 (1.4%) cases. LPAM growth rate was 0.03 (-2.18-11.59) cm/year. Seventy-one masses (31.5%) underwent diagnostic procedures (surgery/biopsy) with adrenocortical adenoma (n=37; 52.1%) and adrenocortical carcinoma (ACC) (n=25; 35.2%) being the two most common diagnoses. The tumor growth rate of pathologically confirmed adenomas was 0.03 (-0.30-10.50) cm/year, and of ACC was 1.31 (0.03-11.59) cm/year. A total of 154 (68.4%) LPAMs remained under surveillance at the end of the study, with a follow-up time of 51.8 (6-241) months and a tumor growth rate of 0.02 (-2.18-1.36) cm/year. Forty-five (20.6%) LPAMs decreased by 2 mm (1-13) during the study period. Cases that proved to be ACC had the most significant tumor growth rate over the study (p&amp;lt;0.001). The median time between the initial discovery of LPAM and the surgical resection of ACC cases was 34 (6-128) months. Conclusion: Our study showed that LPAMs carry significant malignant potential, and close long-term follow-up is warranted when surgical resection is not pursued. Prospective studies are critically needed to validate our findings and to establish high-risk molecular, imaging, and biochemical features associated with malignancy. Presentation: 6/2/2024

6714 Bone And Radiologic Findings In Congenital Generalized Lipodystrophy: A Systematic Review

Abstract Disclosure: R.M. Tuska: None. M. Brush: None. A.A. Livinski: None. R.J. Brown: None. Congenital Generalized Lipodystrophy (CGL) is characterized by a near-total loss of subcutaneous adipose tissue, leading to severe metabolic and systemic comorbidities. CGL is most commonly caused by mutations in AGPAT2 (CGL1) and BSCL2 (CGL2) genes. Skeletal abnormalities such as diffuse sclerosis, lytic bone lesions, and high bone mineral density (BMD) have been recognized in many patients with CGL, but the radiologic and clinical features of these bone phenotypes remain ill-defined. The aim of this systematic review was to evaluate the bone manifestations and radiologic findings associated with CGL1 and CGL2. We searched 6 databases: CINAHL Plus, Embase, Global Index Medicus (WHO), PubMed, Scopus, and Web of Science: Core. We screened articles utilizing a dual reviewer process in Covidence. Included publications reported primary bone and radiologic findings in patients with CGL1 or CGL2. Exclusions comprised publications without full text, duplicate publications, those lacking bone measures, and review articles. Two reviewers extracted data using RedCap and assessed risk of bias. 270 records were screened and 37 records reporting 179 cases of CGL were included for data extraction. Among the 79 patients assessed for bone cysts, 49 (62%) exhibited lytic appearing lesions. Of these 49, 14 (29%) patients presented with symptomatic lesions, primarily manifesting as bone pain at the lesion site (n=6), or pathologic fracture at the lesion site (n=9). Bone biopsy (n=7) revealed thin trabeculae and extensive vascular proliferation at the lesion site. Bone marrow biopsies (n=2) and imaging (n=20) revealed normal hematopoietic marrow with a marked reduction in marrow fat. 12 patients underwent serial bone imaging revealing diffuse osteosclerosis and the absence of lytic lesions in early childhood. During adolescence, lytic lesions appeared and progressed throughout the proximal and distal ends of the long bones in the appendicular skeleton sparing the axial skeleton. Markers of bone turnover were within normal limits except for sclerostin, which was elevated in a cohort of 11 patients. High BMD (n= 65), advanced skeletal maturation (n= 49), diffuse osteosclerosis (n=30), scoliosis (n=8), pseudo-osteopoikilosis (n=6), coxa valga (n=5), enlarged epiphyses (n=7), and coarse trabeculae (n=8) were also reported. While leptin replacement therapy improved metabolic parameters in many patients, it did not reverse the high bone mineral density or significantly alter markers of bone turnover. Individuals with CGL exhibit a spectrum of skeletal abnormalities including lytic-appearing lesions, osteosclerosis, high bone mineral density, advanced skeletal maturation, and pseudo-osteopoikilosis. Further long-term follow-up is needed to comprehensively assess the progression of these lesions over the life course and to elucidate the mechanisms contributing to their development. Presentation: 6/2/2024

12279 Molecular Strategy And Genetic Characterization Of A Large Cohort Of Pediatric Patients With Hereditary Hypophosphatemic Rickets: Advantages Of Next Generation Sequencing

Abstract Disclosure: N. Perez Garrido: None. P. Ramirez: None. G.L. Viterbo: None. M. del Pino: None. S. Abbate: None. N.I. Saraco: None. F. Tesan: None. M. Ciaccio: None. V. Fano: None. A. Belgorosky: None. R. Marino: None. Background: Hereditary hypophosphatemic rickets (HHR) is a group of rare disorders characterized by renal phosphate wasting and impairment of vitamin D metabolism. Different genetic defects can cause HHR, although they share similar clinical, radiological and biochemical features. Dominant X-linked HR (XLHR) is the most frequent form (1/ 20,000) caused by inactivating variants in PHEX gene. As affected individuals present with a broad phenotypic spectrum next generation sequencing (NGS) represent a useful tool for molecular diagnosis characterization. Aim: To report a molecular strategy and genetic characterization of a large cohort of pediatric patients with HHR followed in a single tertiary institution. Patients and Methods: We analyzed 77 affected patients from 60 non related families (and 58 parents) sent to our laboratory for molecular genetic testing under suspicion of HHR based on clinical, radiological and laboratory studies.In patients without hypercalciuria, Sanger sequencing of PHEX gene was initially performed. In female cases in which no alteration was detected, MLPA analysis was used to detect copy number variations. A group of patients with no proven variations in PHEX gene and those with hypercalciuria were analyzed using a NGS custom panel including 14 related genes. Results: Of the total 60 non related cases a pathogenic variant was found in 52 (87%). Regarding PHEX gene analysis, a pathogenic variant was found in 48/60 (80%), 27 were sporadic and 21 familial cases. Forty-one different pathogenic variants were found (5 gross deletions, 13 nonsense, 9 frameshift, 5 splice-site and 9 missense) distributed throughout the gene with higher prevalence from exon 15 to 22. 18/41 (44%) of variants were novel. RNA analysis was performed in 2 novel splice variants (c.849G&amp;gt;A-p.Glu283Glu and c.1586+6T&amp;gt;A) in which an abnormal splicing was confirmed.We found a pathogenic variant in 5/9 cases analyzed by NGS. Three of them in SLC34A3 gene (2 homozygous, 1 compound heterozygous), 1 in ENPP1 gene (compound heterozygous) and 1 in PHEX gene non-detected by Sanger sequencing. Discussion: This molecular strategy, along with a careful clinical and biochemical selection of patients, allowed us to perform genetic diagnosis in 87 % of non-related families. This study reports 21 novel pathogenic variants and it shows the greatest genetic characterization in pediatric HHR patients in Argentine population. The results obtained confirmed that PHEX is the most responsible gene for HHR phenotype, as previously described. By NGS, less common forms of rickets could be detected. Among them, the most frequent was HHR with hypercalciuria due to recessive mutations in SLC34A3 gene. NGS studies represent a useful tool, especially in those complex cases, to reach an accurate diagnosis, and they contribute to improve long term follow up of patients and genetic counseling. Presentation: 6/2/2024

9294 Clinical and Radiological Characterization And Outcomes of Lipid-Poor Adrenal Masses- A Multi-Center Retrospective Study

Abstract Disclosure: V. Balderrama-Brondani: None. R. Al-ward: None. K. Kiseljak-Vassiliades: None. L.M. Fishbein: None. D.A. Kirelik: None. O. Hamidi: None. R. Pishdad: None. H.K. Ghayee: None. M. Sukkari: None. S.S. Bedrose: None. A.H. Hamrahian: None. M.A. Habra: None. Background: Lipid-poor adrenal masses (LPAMs) with pre-contrast radiodensity &amp;gt;10 Hounsfield Units (HU) on computed tomography (CT) represent ∼25% of adrenal tumors. There is limited data about the natural history of LPAMs; therefore, we evaluated a large series of patients with LPAMs to describe the radiological and clinical features and outcomes of these cases. Methods: We conducted a multi-center retrospective cohort study of patients with LPAMs with a baseline diameter of 10-39 mm and derived from 6 institution members of the American-Australian-Asian Adrenal Alliance (A5). We excluded suspected or proven adrenal metastasis, pheochromocytoma, sarcoma, lymphoma, myelolipoma, infiltrative lesions, and adrenal hemorrhage, as well as patients with personal/familial history of genetic predisposition to adrenal neoplasms. The data is presented in percentage and median (range). Results: A total of 242 adrenal masses from 218 patients were evaluated, but only 225 (93%) masses met the inclusion criteria and were analyzed. The age was 58 (23-92), and 61% were women. LPAMs were incidentally discovered in 155 (71.1%) cases, 32 (14.7%) cases were diagnosed due to hormonal overproduction, and 17 (7.8%) due to pain/mass effect. Forty-six (21.1%) patients were on surveillance for a history of extra adrenal malignancy. Masses were unilateral in 89.9% (left side, 57.1%), with size 21 (10-38) mm, with a pre-contrast density of 24 (11-136) HU. Absolute washout was reported in 107 LPAMs and was &amp;gt;60% in 73 (68.2%) cases. The follow-up time was 44.4 (0.9-241) months. Hormonal overproduction developed during the follow-up in 23 (10.5%) cases as follows: cortisol in 15 (6.9%), aldosterone in 4 (1.8%), and sex hormones in 3 (1.4%) cases. LPAM growth rate was 0.03 (-2.18-11.59) cm/year. Seventy-one masses (31.5%) underwent diagnostic procedures (surgery/biopsy) with adrenocortical adenoma (n=37; 52.1%) and adrenocortical carcinoma (ACC) (n=25; 35.2%) being the two most common diagnoses. The tumor growth rate of pathologically confirmed adenomas was 0.03 (-0.30-10.50) cm/year, and of ACC was 1.31 (0.03-11.59) cm/year. A total of 154 (68.4%) LPAMs remained under surveillance at the end of the study, with a follow-up time of 51.8 (6-241) months and a tumor growth rate of 0.02 (-2.18-1.36) cm/year. Forty-five (20.6%) LPAMs decreased by 2 mm (1-13) during the study period. Cases that proved to be ACC had the most significant tumor growth rate over the study (p&amp;lt;0.001). The median time between the initial discovery of LPAM and the surgical resection of ACC cases was 34 (6-128) months. Conclusion: Our study showed that LPAMs carry significant malignant potential, and close long-term follow-up is warranted when surgical resection is not pursued. Prospective studies are critically needed to validate our findings and to establish high-risk molecular, imaging, and biochemical features associated with malignancy. Presentation: 6/2/2024

8683 Composite Pheochromocytoma/Paraganglioma-Ganglioneuroma: Biochemical And Radiological Features

Abstract Disclosure: S. Agarwal: None. A.P. Dackiw: None. F. Nwariaku: None. J.E. Mosquera: None. L. Jia: None. M.G. Roden: None. O. Hamidi: Advisory Board Member; Self; Corcept Therapeutics. Introduction: Composite pheochromocytoma/paraganglioma with ganglioneuroma (PHEO-GN or PGL-GN) is a rare tumor consisting of chromaffin cells or ganglia tissue combined with a developmentally related neurogenic tumor. Composite tumors can be present in up to 10% of PHEO and are rare with just over 100 cases reported in published literature. We present a case series of patients with PHEO-GN and PGL-GN seen at our tertiary care center to examine their natural history, clinical, radiological, and biochemical characteristics. Methods: We conducted a retrospective longitudinal follow-up study of consecutive adult patients with histologically-proven PHEO-GN and PGL-GN seen between 2013 and 2023. We collected and summarized data on demographics, laboratory findings, radiological results, and clinical outcomes. Results: The cohort comprised 10 patients (60% women): 8 with PHEO-GN (1 diagnosed on autopsy), 1 with PGL-GN, and 1 with PHEO-ganglioneuroblastoma. The median age at diagnosis was 47 years (interquartile range [IQR], 35-60). Most (80%) tumors were discovered incidentally. The prevalence of a genetic syndrome was 40% and included multiple endocrine neoplasia (MEN) 2A, MEN 4, Neurofibromatosis 1, and hereditary PHEO-PGL syndrome due to succinate dehydrogenase type B gene mutation. Nine patients (90%) had biochemically functional tumors with adrenergic biochemical phenotype in 89% and noradrenergic in 11%. The tumor associated with MEN 4 also had dopamine secretion. The median elevation above the upper normal limit of plasma metanephrine was 7.4 (IQR, 1.6-12), 24-hour urine metanephrine was 7.12 (IQR, 3.7-8.8), plasma normetanephrine was 1.7 (IQR, 1.5-1.9), and 24-hour urine normetanephrine was 2.9 (IQR, 2.4-3.5). The median tumor size at the time of diagnosis was 4.2 cm (IQR, 3.3-5.2). The median pre-contrast HU on CT imaging was 37 HU (IQR, 20-40). The median time to surgical excision from the diagnosis was 2.7 months (IQR, 1.9-4.6). All patients that underwent surgery were alive without recurrence of disease at last follow-up visit with a median follow-up of 14.5 months (IQR, 0.5-18.4). Conclusions We present a series of 10 consecutive patients with composite PHEO-GN and PGL-GN. The prevalence of genetic syndrome (40%) was much higher than previously reported (up to 25% in prior reports). PHEO or PGL component of these tumors is commonly biochemically functional with metanephrine and normetanephrine elevation commonly seen. Metastatic or recurrent disease was not observed in our cohort, suggesting favorable outcomes after surgical resection. Presentation: 6/2/2024

Factors affecting mammogram breast cancer surveillance effectiveness in the ipsilateral and contralateral breast

AimMammography is the mainstay of imaging surveillance after breast cancer (BC) treatment, but false negatives can occur. The objective of the study was to determine the factors that can predict poorer second breast cancer (SBC) mammogram detection of the ipsilateral and contralateral breast separately. MethodsA multicentre retrospective review was performed on female patients with a previous history of treated BC who developed a second breast cancer (SBC) in the ipsilateral (ISBC) or contralateral breast (CSBC) within 10 years from the first BC. SBC cases that occurred between January 2006 and October 2017 were included from the institutional database. The ISBC and CSBC mammogram-occult (MO) rates were correlated with mammographic breast density as well as various clinical, radiological and histological characteristics of the first BC. Results274 cases of SBC were evaluated. 39.4 % (108/274) of cases were ISBC and 60.6 % (166/274) were CSBC. 35 (32.4 %) of the ISBCs and 42 (25.3 %) of the CSBCs were MO (p = 0.218). On multivariate analysis, symptomatic first BC (p = 0.041), prevailing dense breast tissue at the time of SBC diagnosis (p = 0.003) and trabecular thickening on surveillance mammograms (p = 0.017) were associated with MO ISBC. MO first BC (p < 0.001) was the only factor found to correlate with MO CSBC. ConclusionThe study found various clinical, radiological and pathological factors associated with mammogram surveillance failure for the ipsilateral and contralateral breast. This information can provide additional guidance in the planning of a personalised surveillance program using adjunct imaging screening.

Regimens and Response Assessment in Minimally Invasive Image-Guided Therapies for Vascular Malformations: Insights from a Large Cohort Study at a Tertiary-Care Hospital

This retrospective study was aimed at characterizing vascular malformations (VMFs) presenting for minimally invasive image-guided therapies (MIT) at a tertiary-care center and evaluating treatment regimens and image-based outcomes using MRI. We analyzed demographic, disease-related, and radiologic features of VMFs presenting to interventional radiology between May 2008 and August 2020 using compendium vascular anomaly (Compva) criteria. MIT and specific agents were evaluated, and treatment effects were assessed through volumetry and mean signal intensity (MSI) on multiparametric longitudinal MRI. The statistics included the paired t-test, ANOVA, and Fisher’s exact test. The cohort included 217 patients (mean age 30 ± 18.4 years; 134 female). Venous malformations were most common (47%). VMFs were frequently located in the head-neck region (23.5%), legs (23.04%), and arms (13.8%). Among 112 treatments, sclerotherapy was performed most frequently (63.9%), followed by embolization (19.3%). MRI showed a significant reduction in T2 MSI for venous (1107.95 vs. 465.26; p = 0.028) and decreased contrast media uptake for lymphatic malformations (557.33 vs. 285.33; p = 0.029) after sclerotherapy, while the lesion volumes did not change significantly (p = 0.8). These findings propose MRI-derived MSI as a potential non-invasive biomarker for assessing the response of VMF to MIT. By leveraging MRI, this study addresses challenges in managing rare diseases like VMFs, while advocating for standardized approaches and prospective studies to better link imaging findings with clinical outcomes.

8637 Pituicytoma mimicking Craniopharyngioma

Abstract Disclosure: O. Araoye: None. T. Delibasi: None. A. Chaugule: None. S.K. Dhillon: None. C. Fuller: None. Pituicytoma, a rare low-grade glial tumor originating from the neurohypophysis or infundibulum of the pituitary gland, poses diagnostic challenges due to its propensity to mimic other sellar or suprasellar lesions. We present a case of a 51-year-old male with a history of a suprasellar mass initially suggested to be a craniopharyngioma, incidentally discovered. Opting for elective surgery, the patient underwent transsphenoidal resection, revealing a highly vascular tumor adherent to the optic chiasm and pituitary stalk. While the tumor was successfully removed, sacrifice of the pituitary stalk led to postoperative complications, including cerebrospinal fluid (CSF) leak and central diabetes insipidus (DI).Histopathological examination characterized the tumor as oncocytic pituicytoma/spindle cell oncocytoma, a subtype of pituicytoma. The anti-mitochondrial antibody staining at an external laboratory displayed diffuse granular cytoplasmic staining supporting oncocystic pituicytoma/spindle cell oncocytoma.Postoperatively, the patient developed central DI treated initially with desmopressin (DDAVP), complicated by subsequent hyponatremia necessitating salt tablets and fluid restriction. Additionally, central adrenal insufficiency was managed with hydrocortisone, and central hypothyroidism with levothyroxine. A history of testosterone deficiency was addressed through testosterone injections every 10 weeks.Pituicytoma's diagnostic complexity arises from nonspecific radiological features, requiring reliance on histology and immunohistochemistry for definitive diagnosis. The expression of TTF1 emerges as a characteristic marker. Surgical resection, the primary treatment modality, proves curative in most cases, albeit with associated morbidity including CSF leak, DI, and panhypopituitarism. The role of adjuvant radiotherapy remains uncertain, potentially considered in cases of incomplete resection or recurrence.This case emphasizes three key aspects: first, the potential misdiagnosis of a lobulated suprasellar mass as craniopharyngioma when it could be pituicytoma; second, the development of postoperative DI due to pituitary stalk involvement; and third, the importance of considering pituicytoma in the differential diagnosis of sellar and suprasellar masses.In conclusion, pituicytoma, though rare, demands a nuanced diagnostic approach and comprehensive postoperative management to address potential complications and optimize patient outcomes. Presentation: 6/2/2024

The preoperative recurrence score: Predicting early recurrence in peri-hilar cholangiocarcinoma

IntroductionDespite advances in surgical techniques, the rate of early recurrence in perihilar cholangiocarcinoma (PCC) remains high. We sought to develop the Preoperative Recurrence Score (PRS), a model to estimate the risk of early recurrence after resection based on preoperative radiological characteristics. Materials and methodsData of patients who underwent surgery for PCC were retrospectively collected, and preoperative imaging was reviewed to assess tumor characteristics. A model to assess the risk of early recurrence based on preoperative radiologic characteristics was internally developed and externally validated on two cohorts of patients from two European major hepatobiliary surgery referral centers. ResultsA total of 215 patients among three different patient cohorts were included in the study. Tumor size ≥18 mm (HR 2.70, 95 % CI 1.48–4.92, p = 0.001), macroscopic portal vein involvement (HR 2.28, 95%CI 1.19–4.34, p = 0.013), hepatic arteries involvement (HR 2.44, 95%CI 1.26–4.71, p = 0.008), and presence of suspicious lymph nodes (HR 1.98, 95%CI 1.02–3.83, p = 0.043) were significantly associated with recurrence-free survival (RFS). The model showed excellent discrimination both on the internal (AUC 0.83) and external validation cohorts (external 1: AUC 0.84; external 2: AUC 0.70). High PRS was associated with worse RFS among all three cohorts, with a 1-year recurrence probability of 80.1 %, 100.0 %, and 54.2 % in the internal and external validation cohorts 1 and 2, respectively. ConclusionsThe PRS is a simple tool that can accurately assess the risk of early recurrence in patients with PCC. Up-front surgery should be carefully evaluated in patients with high PRS, as it could result in a futile resection.

The continuous rise in orbital subperiosteal abscess incidence in the Iranian pediatric population

In this study, we aimed to follow up on the surprising increase in the incidence of orbital subperiosteal abscesses (SPA) reported in the Iranian pediatric population in the post-COVID era. Pediatric patients (≤ 18 years old) diagnosed with orbital SPA following acute sinusitis who were hospitalized between October 1st, 2023, and March 31st, 2024 in Farabi Eye Hospital, Tehran, Iran, were included. Demographic, clinical, microbiologic, and radiological characteristics of patients were reviewed. During the 6-month study period, 39 patients were admitted to our tertiary referral hospital. The average age of patients was 7.29 ± 4.13 years and 30 patients (76.92%) were male. The ethmoid sinus was involved in 100% of patients, and SPA involvement was in the medial wall in 27 patients (69.23%). The mean volume of SPA was 1.45 ± 1.77 cm3. Nineteen patients (48.72%) underwent surgical interventions, however, 20 patients (51.28%) received only medical treatment. The best corrected visual acuity of patients increased from 0.63 (0.20 LogMAR) on the first day of admission to 0.84 (0.07 LogMAR) according to the Snellen chart in the first month after treatment. It seems that the outbreak of orbital SPA in the Iranian children population in the post-COVID era is an increasing trend.

Predicting the severity of mycoplasma pneumoniae pneumonia in pediatric and adult patients: a multicenter study

The purpose of this study is to develop a nomogram model for early prediction of the severe mycoplasma pneumoniae pneumonia (SMPP) in Pediatric and Adult Patients. A retrospective analysis was conducted on patients with MPP, classifying them into SMPP and non-severe MPP (NSMPP) groups. A total of 550 patients (NSMPP 374 and SMPP 176) were enrolled in the study and allocated to training, validation cohorts. 278 patients (NSMPP 224 and SMPP 54) were retrospectively collected from two institutions and allocated to testing cohort. The risk factors for SMPP were identified using univariate analysis. For radiomic feature selection, Spearman’s correlation and the least absolute shrinkage and selection operator (LASSO) were utilized. Logistic regression was used to build different models, including clinical, imaging, radiomics, and integrated models (combining clinical, imaging, and radiomics features selected). The model’s discrimination was evaluated using a receiver operating characteristic curve, its calibration with a calibration curve, and the results were visualized using the Hosmer–Lemeshow goodness-of-fit test. Thirteen clinical features and fourteen imaging features were selected for constructing the clinical and imaging models. Simultaneously, a set of twenty-five radiomics features were utilized to build the radiomics model. The integrated model demonstrated good calibration and discrimination in the training cohorts (AUC, 0.922; 95% CI: 0.900, 0.942), validation cohorts (AUC, 0.879; 95% CI: 0.806, 0.920), and testing cohorts (AUC, 0.877; 95% CI: 0.836, 0.916). The discriminatory and predictive efficacy of the clinical model in testing cohorts increased further after clinical and radiological features were incorporated (AUC, 0.849 vs. 0.922, P = 0.002). The model demonstrated exemplary predictive efficacy for SMPP by leveraging a comprehensive set of inputs, encompassing clinical data, quantitative and qualitative radiological features, along with radiomics features. The integration of these three aspects in the predictive model further enhanced the performance of the clinical model, indicating the potential for extensive clinical applications.