Heterogeneous Lesion Research Articles

P-10 CUSHING'S SYNDROME WITH ATYPICAL ADRENAL MASS AND ELEVATED 17-HYDROXYPROGESTERONE: A DIAGNOSTIC CHALLENGE

Abstract Introduction Adrenal tumors can be challenging to diagnose, especially when they present with unusual biochemical profiles and unclear pathological findings. This case focuses on the management complexities of a patient with a heterogeneous adrenal mass, significantly elevated 17-hydroxyprogesterone levels, and Cushing's syndrome. The diagnostic uncertainty highlights the need for careful follow-up and further research into such adrenal tumors. Clinical Case A 63-year-old male with a 10-year history of hypertension presented with sudden severe back pain and dyspnea. He was diagnosed with a Type 3 aortic dissection, treated in the ICU, and later referred to endocrinology for secondary hypertension evaluation, where hypokalemia was noted. Investigations revealed normal 24-hour urinary metanephrines (metanephrine: 142 µg, normetanephrine: 367 µg), and an aldosterone/renin ratio of 8 while on multiple antihypertensive medications. His BMI was 24.6. Endocrine evaluation showed a 1 mg dexamethasone suppression test result of 19.6 µg/dL, suppressed basal ACTH and DHEAS, midnight cortisol levels of 21 µg/dL and 27 µg/dL, and an increased 24-hour urinary free cortisol level of 1069 µg. The 17-hydroxyprogesterone levels were 26 ng/mL and 18 ng/mL. A CT scan revealed a 47x40 mm heterogeneous lesion in the left adrenal gland. PET-CT and DOTATATE-PET scans showed mild to moderate FDG uptake, suggesting a possible, though unlikely, pheochromocytoma. The patient underwent a left adrenalectomy due to suspected Cushing's syndrome and potential adrenal malignancy. Pathology revealed a 6 cm lesion with no atypia, mitosis, or lymphovascular invasion, but the tumor was deemed neoplastic due to the disrupted excision capsule. Postoperatively, the patient's Cushing's symptoms improved, and follow-up tests showed reduced cortisol and 17-hydroxyprogesterone levels. He was diagnosed with adrenal insufficiency and started on prednisolone therapy. Conclusion This case underscores the diagnostic challenges of adrenal tumors with atypical biochemical presentations. The significant postoperative reduction in 17-hydroxyprogesterone and resolution of Cushing's syndrome suggests functional activity of the adrenal mass. However, the indeterminate pathology raises concerns about malignancy and emphasizes the need for close long-term monitoring. The lack of definitive pathological criteria to distinguish benign from malignant adrenal tumors highlights a critical gap in current diagnostic methods, reinforcing the importance of integrating clinical, biochemical, and pathological data for management decisions.

Pancreatic tuberculosis revealed by a mass with neoplastic appearance: a case report

Introduction. Pancreatic tuberculosis is an extremely rare form of extrapulmonary tuberculosis. This condition can be challenging to diagnose due to its rarity, nonspecific symptoms and radiological features that may mimic a neoplastic origin. Case report. A 46-year-old immunocompetent patient with no past history of tuberculosis exposure presented with spontaneously resolving jaundice over the past month, accompanied by nonspecific fever episodes and general fatigue with no other associated digestive symptoms. Abdominal computed tomography (CT) and magnetic resonance imaging (MRI) scans revealed a poorly defined, partially necrotic mass in the pancreatic head with heterogeneous hypodensity and enhancement after contrast injection. Additionally, there were nodal and hilar macro-nodal lesions with necrotic appearances, as well as peripancreatic lymphadenopathy. The patient was scheduled for an endoscopic ultrasound (EUS) examination, which revealed the presence of a heterogeneous lesion with areas of necrosis in the posterosuperior aspect of the head and isthmus of the pancreas, accompanied by perilesional and coeliac lymphadenopathies with necrotic centres. EUS-guided tissue sampling allowed the diagnosis of pancreatic tuberculosis, with both histological examination and GeneXpert MTB/RIF testing rapidly positive for Mycobacterium tuberculosis, followed by culture on solid Loewenstein–Jensen medium. The patient responded well to antitubercular chemotherapy. Conclusion. Pancreatic tuberculosis, though rare, should be considered in cases of pancreatic masses, especially in endemic regions. Tissue samples with necrosis should be tested for M. tuberculosis using GeneXpert and Loewenstein–Jensen culture. This work highlights the GeneXpert MTB/RIF test as highly sensitive, specific and fast, making it ideal for diagnosing extrapulmonary tuberculosis, particularly when smear results are negative.

Unveiling pathology-related predictive uncertainty of glomerular lesion recognition using prototype learning.

Recognizing glomerular lesions is essential in diagnosing chronic kidney disease. However, deep learning faces challenges due to the lesion heterogeneity, superposition, progression, and tissue incompleteness, leading to uncertainty in model predictions. Therefore, it is crucial to analyze pathology-related predictive uncertainty in glomerular lesion recognition and unveil its relationship with pathological properties and its impact on model performance. This paper presents a novel framework for pathology-related predictive uncertainty analysis towards glomerular lesion recognition, including prototype learning based predictive uncertainty estimation, pathology-characterized correlation analysis and weight-redistributed prediction rectification. The prototype learning based predictive uncertainty estimation includes deep prototyping, affinity embedding, and multi-dimensional uncertainty fusion. The pathology-characterized correlation analysis is the first to use expert-based and learning- based approach to construct the pathology-related characterization of lesions and tissues. The weight-redistributed prediction rectification module performs reweighting- based lesion recognition. To validate the performance, extensive experiments were conducted. Based on the Spearman and Pearson correlation analysis, the proposed framework enables more efficient correlation analysis, and strong correlation with pathology-related characterization can be achieved (c index>0.6 and p<0.01). Furthermore, the prediction rectification module demonstrated improved lesion recognition performance across most metrics, with enhancements of up to 6.36%. The proposed predictive uncertainty analysis in glomerular lesion recognition offers a valuable approach for assessing computational pathology's predictive uncertainty from a pathology-related perspective. The paper provides a solution for pathology-related predictive uncertainty estimation in algorithm development and clinical practice.

Teratocarcinosarcoma of the nasal cavity: challenges in the clinico-pathologic perspectives.

Clinicopathologic illustration of sinonasal teratocarcinosarcoma (SNTCS) in a middle-aged man, highlighting the difficulties and challenges encountered during surgical intervention, histopathologic diagnosis, and its overall management. Case report and literature review. A 40-year-old man having recurrent epistaxis for three months presented with a dark-colored protruding polypoid nasal mass. Magnetic resonance imaging revealed a large, heterogeneous gadolinium-enhanced infiltrative lesion in the left nasal cavity with a T2-hypointense trans-septal zone. The mass abutted the cribriform plate, lamina papyracea, and septum, involved the inferior and middle turbinates, and blocked the choanae through the nasopharynx. There was profuse hemorrhage when an endoscope-assisted biopsy was attempted. Histopathology from the debulked specimen suggested SNTCS. The diagnosis was confirmed on immunohistochemistry. A metastatic search turned negative. However, at three weeks, the patient returned with a recurrence. A repeat debulking was done, and he was thereafter put on adjuvant chemotherapy. A second recurrence/residual lesion was noted midway through the chemotherapy regimen. However, it resolved after completion of the chemotherapy and subsequent image-guided radiotherapy, and the patient continued to be disease-free till the last follow-up at six weeks postradiotherapy. SNTCS is an extremely aggressive malignancy that is seldom encountered in routine otolaryngology and pathology practice, with only a few reports of SNTCS documented. It is histologically composed of epithelial, mesenchymal, and primitive neuroectodermal elements with areas of undifferentiation. They are notorious for troublesome intra-operative bleeding, making complete surgical excision difficult, and the absence of a tumor-free margin often results in recurrence. Owing to their variegated and heterogeneous tissue composition, histopathologic diagnosis is enormously challenging without a representative tissue sample and immunohistochemistry. In spite of prompt and energetic multimodality treatment, survival rate is dismal.

C1 lateral mass reconstruction using a titanium cage following total resection of the aneurysmal bone cyst: illustrative cases and literature insights

Introduction: There are limited reports of C1 lateral mass reconstruction using a titanium mesh cage following the surgical removal of an aneurysmal bone cyst (ABC). We describe two uncommon and challenging cases of C1 ABC, highlighting the obstacles and complexities involved in selecting the appropriate approach for tumor resection, C1 stabilization, and reconstruction. Case discussion: Case 1: A 12-year-old boy presented with 3 months of progressive upper cervical and occipital pain with no history of trauma. A heterogeneous lytic lesion with fluid-fluid levels in the right lateral mass of the atlas was detected. A gross total resection(GTR) of the C1 lateral mass ABC was performed through a posterior approach, followed by constructing the C1 lateral mass. Case 2 : An 11-year-old girl presented with cervical pain for the past 6 months. A cervical computed tomography (CT) scan without contrast revealed a lytic-expansile mass lesion with bony erosion in the right transverse process of the C1 vertebra. A similar surgical plan was tailored for this patient. A follow-up examination at 6 weeks demonstrated complete pain relief, and routine neurologic evaluations were uneventful. Discussion: ABCs are uncommon, non-malignant, and highly vascular tumors, accounting for approximately 1% of all bone tumors and 15% of primary spinal tumors. The treatment of choice in this region is total resection, followed by C1 reconstruction. Conclusion: C1 lateral mass reconstruction using an expandable cage with vertebral artery (VA) preservation is recommended for extensive C1 lateral mass resection due to ABC.

Challenges in developing response evaluation criteria for peptide receptor radionuclide therapy: A consensus report from the European Neuroendocrine Tumor Society Advisory Board Meeting 2022 and the ENETS Theranostics Task Force.

Assessing the response to systemic therapy in neuroendocrine tumors (NET) is challenging since morphological imaging response is often delayed and not necessarily reflective of clinical benefit. Peptide receptor radionuclide therapy (PRRT) has a complex mechanism of action, further complicating response assessment. In response to these challenges, the European Neuroendocrine Tumor Society (ENETS) Theranostics Task Force conducted a statement-based survey among experts to identify the current landscape and unmet needs in PRRT response assessment. The survey, presented at the 2022 ENETS Advisory Board (AB) meeting in Vienna, was completed by 70% of AB members, most of whom (81%) were from ENETS Centers of Excellence (CoE). It comprised a set of 13 questions with two substatements in three questions. Six (46%) of the statements achieved more than 75% agreement, while five (39%) additional statements reached over 60% consensus. Key points from the survey include: AB members agreed that lesions deemed equivocal on computed tomography (CT) or magnetic resonance imaging (MRI) should be characterized by somatostatin receptor (SST) positron emission tomography (PET)/CT before being designated as target lesions. It was agreed that interim response assessments should occur after the second or third PRRT cycle. Over half (54%) preferred using both conventional cross-sectional imaging (CT and/or MRI) and hybrid imaging (SST PET/CT) for this purpose. Almost all AB members supported further response assessment 3 months after the final PRRT cycle. A majority (62%) preferred using a combination of conventional cross-sectional imaging and SST PET/CT. For cases showing equivocal progression (ambiguous lesions or nontarget lesions) on CT and/or MRI, further confirmation using SST PET/CT was recommended. A significant majority (74%) preferred assessing pseudo-progression and delayed response by combining SST PET with diagnostic CT and/ or MRI. Though just below the 75% consensus threshold, there was substantial agreement on selecting target lesions based on SST PET/CT uptake intensity and homogeneity. Sixty-nine percent noted the importance of documenting and closely following heterogeneity in lesions in liver, lymph nodes, primary tumors, or other organs. As to the statement on parameters for new response criteria, AB members recommended exploring maximum standard unit value, tumor-to-background ratio, Hounsfield Unit (Choi Criteria), total tumor burden, and novel serum or molecular markers for future response evaluation criteria. Sixty-five percent supported the use of a single SST PET/CT for response assessment of NET lesions treated with PRRT. These findings highlight the importance of integrating advanced imaging techniques and recognizing the need for more nuanced criteria in assessing the efficacy of PRRT in NET patients. This approach aims to enhance the accuracy of treatment monitoring and improve patient outcomes.

Abstract 4131838: Heart’s Deception: A Venous Villain Hiding in the Heart

A 66-year-old male presented with 5 months of worsening left flank and lower back pain. Three weeks prior to this presentation, he was seen at an outside facility where he was found to have a left renal mass that was not further worked up. CT Abdomen and Pelvis showed an enhancing heterogenous lesion at the left superior renal pole, left adrenal gland lesion, and a pulmonary artery filling defect. This defect, along with concern for metastasis, led to a CT chest angiogram that reported small left upper and lower lobe pulmonary emboli. A transthoracic echocardiogram (TTE) was ordered and showed a linear highly mobile mass in the right atrium that was intermittently protruding into the right ventricle and into the main pulmonary artery through the pulmonic valve. There was no visible evidence of tumor extension of the renal mass into the inferior vena cava. Based on this, the highest differential was a clot-in-transit. After collaboration with the pulmonary embolism response team and echo team, the patient underwent aspiration thrombectomy via AngioVac system with transesophageal echocardiography (TEE) guidance. Most of the mass was removed, but there was a residual small portion adherent to the superior vena cava that was not amenable to aspiration. Grossly, the removed mass did not have the classic appearance of thrombus. The specimen was sent to pathology and returned as poorly differentiated carcinoma with spindle cell pattern positive for PAX8, CK7, CD10, pancytokeratin, and vimentin concerning for renal cell carcinoma. Post procedural transthoracic echo found to have new basal septal globular mass with vascularity seen on echo contrast imaging concerning for vascular involvement consistent with myocardial metastatic invasion. Cardiac magnetic resonance imaging could have aided in more precise tissue characterization to differentiate between clot or tumor prior to aspiration thrombectomy. This case demonstrates the significance of a detailed history and physical exam, use of multimodality imaging, and multidisciplinary collaboration to manage a rare cardiac condition.

A Case Report on Congenital Mesoblastic Nephroma

Aims: This study aims to provide a comprehensive review of the epidemiology, genetic underpinnings, clinical presentation, and management strategies of congenital mesoblastic nephroma (CMN), with a focus on the diagnostic and therapeutic challenges that distinguish it from other neonatal renal tumors such as Wilms’ tumor. By presenting a unique case of a neonate diagnosed with CMN and undergoing tumor resection, we seek to highlight the complexities of perinatal care in such cases and the potential for life-threatening complications despite early intervention. Furthermore, the study underscores the importance of early and accurate differentiation between CMN subtypes, as well as the role of histopathology in guiding treatment approaches. Presentation of Case: A female neonate was born at 34+2 weeks gestation, presenting with a retroperitoneal mass on the left kidney, identified prenatally via ultrasound. Delivered by cesarean section due to polyhydramnios and anemia, a palpable intraabdominal mass was noted during examination. Imaging confirmed a heterogeneous solid lesion suggestive of nephroblastoma. The patient underwent nephroureterectomy, with histopathology confirming congenital mesoblastic nephroma. Despite successful resection, the patient died at 9 days of age from refractory catecholamine septic shock, with complications including neonatal sepsis, gastrointestinal bleeding, and femoral artery thrombosis. Discussion: Congenital mesoblastic nephroma is the most common renal tumor in neonates, often misdiagnosed as Wilms’ tumor. It typically presents before 2 months of age and is associated with translocation (12;15)(p13;q25). The prognosis for classical CMN is excellent, while the cellular variant is more aggressive. Surgical excision is the primary treatment, but the neonate's age necessitates careful management to mitigate risks. In this case, multiple complications contributed to the poor outcome despite timely intervention. Conclusion: CMN is a rare renal tumor in neonates, requiring accurate diagnosis through histopathology. While prognosis is generally favorable, complications from prematurity can adversely affect survival.

Clinical relevance of paramagnetic rim lesion heterogeneity in multiple sclerosis.

Previous studies reveal heterogeneity in terms of paramagnetic rim lesions (PRL) associated tissue damage. We investigated the physiopathology and clinical implications of this heterogeneity. In 103 MS patients (72 relapsing and 31 progressive), brain lesions were manually segmented on 3T 3D-FLAIR and rim visibility was assessed with a visual confidence level score (VCLS) on 3D-EPI phase. Using T1 relaxation time maps, lesions were categorized in long-T1 and short-T1. Lesion age was calculated from time of first gadolinium enhancement (N = 84 lesions). Results on clinical scores were validated in an extended cohort of 167 patients using normalized T1w-MPRAGE lesion values. Rim visibility (VCLS analysis) was associated with increasing lesional T1 (P/PFDR < 0.001). Of 1680 analyzed lesions, 427 were categorized as PRL. Long-T1 PRL were older than short-T1 PRL (average 0.8 vs. 2.0 years, P/PFDR = 0.005/0.008), and featured larger lesional volume (P/PFDR < 0.0001) and multi-shell diffusion-measured axonal damage (P/PFDR < 0.0001). The total volume of long-T1-PRL versus PRL showed 2× predictive power for both higher MS disability (EDSS; P/PFDR = 0.003/0.005 vs. P/PFDR = 0.042/0.057) and severity (MSSS; P/PFDR = 0.0006/0.001 vs. P/PFDR = 0.004/0.007). In random forest, having ≥1 long-T1-PRL versus ≥4 PRL showed 2-4× higher performance to predict a higher EDSS and MSSS. In the validation cohort, long-T1 PRL outperformed (~2×) PRL in predicting both EDSS and MSSS. PRL show substantial heterogeneity in terms of intralesional tissue damage. More destructive, likely older, long-T1 PRL improve the association with MS clinical scales. This PRL heterogeneity characterization was replicated using standard T1w MRI, highlighting its potential for clinical translation.

7202 CPP with Rapid Pubertal Progression in a 9-Year-Old Boy with Hypothalamic Teratoma

Abstract Disclosure: R. Robilliard: None. G. Tung: None. K. Svokos: None. R. Lulla: None. J.Q. Quintos: None. Background: Central Precocious Puberty (CPP) in males is rare, with incidence of 0.01-2/10,000. The most common identifiable cause of CPP in young children is hypothalamic hamartoma. No case hypothalamic teratoma has been reported to cause CPP in males. Clinical Case: At the age of 10-years and 5-months, a boy presented to the pediatric endocrinology with signs of precocious puberty including facial hair development, voice deepening, and increased growth velocity that began at 9 years old. There was no significant past medical history and he denied headache, blurry vision, or diplopia. Physical examination showed height of 140.4 cm (47%), Tanner 4 genitalia, Tanner 3 pubic hair, and testicular volumes of 15 cc (left) and 12-15cc (right). Bone age (BA) determined by radiography was 13.5 years with a predicted adult height (PAH) of 63 inches. The mid-parental target height was 67 +/- 4 inches. Evaluation including TSH, glucose, serum and CSF β-HCG, DHEA, CSF AFP was normal. Serum LH was 2.9 IU/L and testosterone level was 109 ng/dl, consistent with CPP. MRI of the pituitary showed a small, heterogeneous and fat-containing lesion extending inferiorly from the tuber cinereum consistent with teratoma. Treatment included GnRH agonist Lupron (30mg) every 3 months. Laboratory evaluation 8 months after initial presentation showed suppressed LH of 0.9 IU/L and FSH 0.5 mIU/mL, and testosterone of 57 ng/dL. Repeat radiography for BA one year after GnRHa suppression showed BA of 14 years at CA of 11 years 6 months and PAH of 64.4 inches. Growth velocity slowed to 5.3 cm/year. At the most recent follow-up visit at CA of 12 years, height was 151.5 cm (61%), growth velocity 6.3 cm/year (74% for age), Tanner 5 penis and pubic hair, left testicular volume of 15-20cc and right testicular volume of 15 cc. Most recent radiographic BA is14 years, and PAH is 65.9 inches. Given response to GnRH agonist injections every 3 months, the absence of CNS symptoms referable to the teratoma and no change in MR imaging, no surgical intervention is recommended. Conclusion: This is the first case of a hypothalamic teratoma reported in a male associated with CPP. Despite this rare cause, the patient has responded to standard treatment with GnRH agonist therapy alone. Presentation: 6/1/2024

12243 The Case of a Metastatic Papillary Thyroid Cancer Presenting as an Unresectable Pelvic Mass

Abstract Disclosure: M. Tucktuck: None. Y. El Soufi: None. O.G. Adeniran: None. A.A. Gliwa: None. Background: Papillary thyroid cancer (PTC) represents around 85% of all thyroid cancers, of which 2-10% of patients will present with metastasis distant to the neck. The frequency of bone metastasis in PTC occurs in only 1-4% of patients. Studies have shown that distant and multi-organ metastasis is associated with higher mortality rates. Clinical case: A 69-year-old woman with diabetes mellitus, cerebrovascular accident, and right lower extremity deep venous thrombosis, presented with right foot and hip pain for 1 week after a mechanical fall. She had a 50 pound weight loss over a year without personal or family history of thyroid cancer or disease or radiation exposure. A soft and nontender mass in the right lower abdomen was noted during a physical exam. Imaging revealed a large heterogeneous lesion (16.3 x 13.3 x 15.5 cm) in the right bony pelvis with internal necrosis, destructing the right iliac bone, and extending into the right sacrum, acetabulum, and musculature, with mass effect on the surrounding vasculature, and enlarged lymph nodes suspicious for metastasis. Thyroid imaging showed a hypervascular hyperechoic 1.3 cm nodule within the right thyroid gland and a large 2 cm left thyroid nodule with scattered microcalcifications. Thyroid function tests were within normal limits. The patient underwent an initial ultrasound guided biopsy of the pelvic mass with indiscriminate results, and later a laparoscopic excisional biopsy of the pelvic mass showed neoplastic papillary proliferation with typical nuclear features, without necrosis or associated ovarian tissue. The immuno-histopathological profile was positive for PAX-8, TTF-1, thyroglobulin, and CK7, and the Ki-67 proliferation index was ∼20-30%. The patient was diagnosed with papillary thyroid cancer with metastasis to the pelvic bone, and was classified as stage IV, cT1bN0M1. As the pelvic mass was inoperable, the patient completed total thyroidectomy and was started on hormone replacement therapy. Subsequent thyroid pathology report was negative for papillary carcinoma. Further review of imaging did not show ectopic thyroid tissue in the neck or an ovarian pathology. Before the patient’s next visit to evaluate for struma ovarii, she passed away. Conclusion: Thyroid cancer is usually treated through thyroidectomy or lobectomy, with radioiodine (RAI) therapy as an effective treatment for differentiated cancers. Our patient, who presented with extremity pain revealing a distant metastasis, completed thyroidectomy with plans to undergo RAI therapy. Our case highlighted the importance of recognizing musculoskeletal presentations as an initial and possibly only finding of a distant metastasis. It also emphasized the utility of multidisciplinary collaboration in detecting and recognizing PTC as a primary thyroid cancer, as early management can reduce mortality and lead to more favorable outcomes. Presentation: 6/2/2024

8385 Coexistence of Parathyroid Adenoma &amp; Papillary Thyroid Cancer: A Rare Case Report

Abstract Disclosure: K. Dash: None. S. Verma: None. U. Ayyagari: None. M. Roy: None. S. Rathore: None. Prevalence of primary hyperparathyroidism (pHPT) ranges from 0.1- 0.4% in general population. Nodular thyroid disease is an increasingly common incidental diagnosis due to widespread use of ultrasound. Papillary thyroid cancer (PTC) is the most common cancer of thyroid gland. Here we report a 53 year old post-menopausal woman presented with weight loss, generalised body aches, arthralgia, myalgia, and proximal muscle weakness. She was hypertensive and clinically euthyroid. Physical examination revealed generalized tenderness all over the body but no thyroid or parathyroid nodules on palpation. Biochemical evaluation showed hypercalcemia 12.1mg/dl (8.4-10.2mg/dl), PTH&amp;gt;2000pg/ml (14-72pg/ml), ALP-1855 U/L (40–125 U/L), decreased phosphorous of 2.4mg/dl (25-4.6 mg/dl), and vitamin-D of 46 nmol/L ( 75-250 nmol/L). USG neck revealed a heterogeneous lesion at the lower pole of right lobe of thyroid gland &amp; two small hypoechoic nodules seen in the right lobe of thyroid gland. FNAC from nodules was inconclusive. USG abdomen revealed nephrocalcinosis. DEXA scan showed severe osteoporosis. Tc99mSestamibi SPECT-CT showed uptake at lower pole of right lobe of thyroid. On exploration, two nodules were palpated in the right lobe of the thyroid and simultaneous right hemi-thyroidectomy was performed. Histopathologic report confirmed parathyroid adenoma (figure 1) as well as presence of carcinoma in the two nodules: one was a papillary thyroid cancer (Classic variant) and the other a follicular variant of papillary thyroid carcinoma (figure 2). Margins were negative for malignancy. She was treated with levothyroxine to maintain TSH &amp;lt;0.1U/L and followed up with annual ultrasound screening. At 2 year follow up, patient was symptom free with improved T score on DEXA scan and no nodule over residual thyroid gland. Discussion: Co-existence of pHPT and PTC ranges from 2.3-4.3%. The use of ultrasound neck as a routine imaging modality for localisation of parathyroid adenoma allows detection of thyroid nodules. Benign and/or malignant thyroid nodules are commonly seen in patients with pHPT and this can range from 2-15%. Women have higher risk for co-existence. The relationship between the two diseases is thought to be incidental. Some authors have suggested possible role of shared genes, embryological factors, transcription factors, vitamin-D deficiency and hyperparathyroidism that could lead to activation of angiogenic factors and carcinogenesis. Fig. 1. Parathyroid adenoma. (a)Tc99m sestamibi scan showing right inferior parathyroid adenoma (b) Parathyroid adenoma (400x high power) comprising predominantly of Chief cells with mild pleomorphism. Fig. 2. Histopathology of PTC. (a)Papillary Carcinoma thyroid. 10xPhotomicrograph showing areas of calcification. (b) Papillary Carcinoma thyroid. Photomicrograph showing thyroid with papillary pattern with areas of infiltration. Presentation: 6/1/2024

8744 Genomic Variant Landscape In Aggressive &amp; Treatment Resistant Prolactin-Secreting Tumors

Abstract Disclosure: D. Marrero-Rodríguez: None. K. Taniguchi-Ponciano: None. F. Martinez-Mendoza: None. E. Peña-Martinez: None. S. Vela-Patiño: None. S. Hinojosa-Alvarez: None. J. Hernandez-Perez: None. R. Chavez-Santoscoy: None. E. Sosa-Eroza: None. P.E. Espinosa Cardenas: None. M. Mercado: None. Pituitary tumors (PT) represent the second most frequent intracranial tumor and this neoplasm arises from adenohypophyseal cells. Prolactin-secreting tumor (PRL-tumors) are the most commonly neoplasm of the pituitary gland and arises from lactotrophs, and account for 50% of all pituitary tumors. Pituitary tumors are highly heterogeneous lesions and many of them are invasive in up to 45%, with up to 15% being clinically aggressive. Aggressive PRL-tumors are defined as invasive tumors with unusually rapid growth rate despite maximal tolerated dopamine agonist dose and requiring additional therapy and presenting multirecurrent potential. Predicting pituitary tumor behavior remains a challenge, therefore we performed whole exome sequencing to identify genomic variant landscape from aggressive and treatment-resistant prolactin-secreting pituitary tumors. Interestingly one tumor showed one hotspot mutation in splicing factor gene SF3B1 (c.C1873T:p.R625C), a second tumor showed an stop codon in SF3B1 (c.C496T:p.R166*). We then evaluated known hereditary-related pituitary tumor genes, identifying three patients with two different GNAS allelic variants the first one showed c.A3059G:p.N1020S and two tumors with c.C1307A:p.A436D variants. PRKAR1A gene did not showed any allelic variants in our cohort, while all tumors presented c.A1636G:p.T546A variant in MEN1 gene, in AIP gene allelic variant c.C682A:p.Q228K was present in all tumors. PAX6 gene is related to pituitary gland development and function, we found a deletion (c.980delA:p.K327Rfs*29) causing frameshift present in all tumors. The target coding-gene for cabergoline, first line of treatment, DRD2 di not showed any allelic variant. Also XRCC1 and ABCB1 genes, which are related to drug and therapy response showed c.A1196G:p.Q399R and c.T2887G:p.S963A allelic variants in 100% and 88% of tumors, respectively. Together this genomic landscape could represent higher risk to harbor aggressive non-responsive PRL secreting tumor. Presentation: 6/1/2024

A rare presentation of nasopharyngeal mass: a case report

A Thornwaldt's cyst develops in the nasopharynx, which is the region where the throat and nasal passageways converge, extending from the back of the nasal tube to above the soft palate. A painful throat, obstruction of the eustachian tube, and pus with an unpleasant taste and odour might result from an infection of the cyst. Here in our study, we report a case of a 27-year-old male presented with symptoms of nasal obstruction and voice change for the past 1 year. On zero-degree endoscopic examination, a nasopharyngeal mass was seen arising from the roof of the nasopharynx without bony erosion of skull base. Further based on his radiological investigations, heterogeneous hyperintense lesion in T1/T2 weighted images of size 5×5 mm noted in nasopharynx most likely to be the Thornwaldt’s cyst. Thus, the surgical removal of the nasopharyngeal mass has been performed through a transoral and trans nasal endoscopic technique with no remnants at the surgical site. The histopathological findings revealed respiratory-type epithelium with underlying lymphoid tissue confirming Thornwald’s cyst as diagnosis. The patient was discharged with no complications and have been periodically advised for a follow-up. The differential diagnosis should include a meningocele or meningo-encephalocele. Various therapeutic approaches, including endoscopic, transoral, or trans palatal surgical interventions, can be used for treatment of symptomatic cysts.

Spermatic cord liposarcoma presented as scrotal swelling: a case report

BackgroundLiposarcoma is considered the most common among spermatic cord sarcomas. It usually presents as a progressively enlarging inguinoscrotal mass. The resemblance between the spermatic cord liposarcoma and the inguinal hernia allows the swelling to be tolerated for a long duration giving time for hematogenous dissemination. In this article, we share the experience of a unique case of metastatic liposarcoma of the spermatic cord that showed a stationary course of the lower abdominal satellite lesions on follow-up following palliative resection.Case presentationWe present a case of a 53-year-old male with progressively enlarging painless scrotal swelling over 1-year duration. A heterogeneous lesion of the right hemiscrotum and spermatic cord with non-specific radiological features was described by imaging. Two lower abdominal skip lesions were also discovered synchronously in addition to the primary one and were designated inoperable as they were adherent to the nearby bowel loops. The patient underwent cytoreductive surgery of the primary tumour which was proven to be an undifferentiated liposarcoma with free safety margins based on histopathology. Finally, the patient was referred for adjuvant chemotherapy and sequential follow-up.ConclusionsDespite being a rare tumour, the radiologist should always consider the liposarcoma of the spermatic cord in the differential diagnosis of inguinoscrotal lesions even in the absence of typical imaging features. The diagnosis and management of spermatic cord liposarcoma remain a challenge with no clear accepted guidelines.

Radiomic and deep learning analysis of dermoscopic images for skin lesion pattern decoding

This study aims to explore the efficacy of a hybrid deep learning and radiomics approach, supplemented with patient metadata, in the noninvasive dermoscopic imaging-based diagnosis of skin lesions. We analyzed dermoscopic images from the International Skin Imaging Collaboration (ISIC) dataset, spanning 2016–2020, encompassing a variety of skin lesions. Our approach integrates deep learning with a comprehensive radiomics analysis, utilizing a vast array of quantitative image features to precisely quantify skin lesion patterns. The dataset includes cases of three, four, and eight different skin lesion types. Our methodology was benchmarked against seven classification methods from the ISIC 2020 challenge and prior research using a binary decision framework. The proposed hybrid model demonstrated superior performance in distinguishing benign from malignant lesions, achieving area under the receiver operating characteristic curve (AUROC) scores of 99%, 95%, and 96%, and multiclass decoding AUROCs of 98.5%, 94.9%, and 96.4%, with sensitivities of 97.6%, 93.9%, and 96.0% and specificities of 98.4%, 96.7%, and 96.9% in the internal ISIC 2018 challenge, as well as in the external Jinan and Longhua datasets, respectively. Our findings suggest that the integration of radiomics and deep learning, utilizing dermoscopic images, effectively captures the heterogeneity and pattern expression of skin lesions.

Dissecting the heterogeneity of craniofacial lesions in patients with fibrous dysplasia/McCune–Albright Syndrome

Fibrous dysplasia/McCune–Albright Syndrome (FD/MAS) frequently involves the craniofacial skeleton. Craniofacial fibrous dysplasia lesions exhibit diverse imaging characteristics on multimodality evaluation, utilizing radiographs, computed tomography (CT), magnetic resonance imaging (MRI), and 18F-sodium fluoride positron emission tomography (18F-NaF PET). A multimodal imaging classification of craniofacial fibrous dysplasia lesions may offer clinical insights into the types of lesions that are (1) prone to progression, (2) amenable to intervention (i.e., pharmacological or surgical), or (3) associated with symptoms such as pain. In this prospective, preliminary single site study of 15 patients with FD/MAS, the heterogeneity of craniofacial lesions (N = 35) was assessed using a combination of 18F-NaF PET, MRI, and CT. A k-means clustering algorithm was used to categorize lesions based on imaging characteristics. Clustering analysis revealed three types of lesion based on the magnitude of the regional 18F-NaF standardized uptake values (SUV), signal intensities on T1-weighted and fluid-sensitive sequences, and appearance on CT (lucent, sclerotic, and/or ground glass). This preliminary study provides a foundation for future longitudinal natural history or treatment studies, where the prognostic value of baseline craniofacial fibrous dysplasia imaging characteristics and clinical symptomatology can be further evaluated.

Textural heterogeneity of liver lesions in CT imaging - comparison of colorectal and pancreatic metastases

PurposeTumoral heterogeneity poses a challenge for personalized cancer treatments. Especially in metastasized cancer, it remains a major limitation for successful targeted therapy, often leading to drug resistance due to tumoral escape mechanisms. This work explores a non-invasive radiomics-based approach to capture textural heterogeneity in liver lesions and compare it between colorectal cancer (CRC) and pancreatic cancer (PDAC).Materials and methodsIn this retrospective single-center study 73 subjects (42 CRC, 31 PDAC) with 1291 liver metastases (430 CRC, 861 PDAC) were segmented fully automated on contrast-enhanced CT images by a UNet for medical images. Radiomics features were extracted using the Python package Pyradiomics. The mean coefficient of variation (CV) was calculated patient-wise for each feature to quantify the heterogeneity. An unpaired t-test identified features with significant differences in feature variability between CRC and PDAC metastases.ResultsIn both colorectal and pancreatic liver metastases, interlesional heterogeneity in imaging can be observed using quantitative imaging features. 75 second-order features were extracted to compare the varying textural characteristics. In total, 18 radiomics features showed a significant difference (p < 0.05) in their expression between the two malignancies. Out of these, 16 features showed higher levels of variability within the cohort of pancreatic metastases, which, as illustrated in a radar plot, suggests greater textural heterogeneity for this entity.ConclusionsRadiomics has the potential to identify the interlesional heterogeneity of CT texture among individual liver metastases. In this proof-of-concept study for the quantification and comparison of imaging-related heterogeneity in liver metastases a variation in the extent of heterogeneity levels in CRC and PDAC liver metastases was shown.

Augmenting CT-Guided Bone Biopsies Using 18F-FDG PET/CT Guidance.

Computer tomography (CT)-guided percutaneous core biopsies are currently the gold standard in diagnostic procedures for patients with bone lesions of unknown kind. CT-guided biopsies can lead to misdiagnosis or repetition of biopsies in case of small or heterogeneous lesions. We hypothesize that molecular image guidance could be used to optimize the biopsy strategy, by supporting the detection of heterogeneous lesions or lesions without radiographic substrate. To evaluate this hypothesis, we investigated if and how the addition of 2-deoxy-2-18F-fluoro-D-glucose-positron emission tomography (18F-FDG-PET)/CT could augment routine CT-guided bone biopsies. To this end, 106 patients who underwent a CT-guided bone biopsy between April 2019 and April 2020, obtained from either a vertebral or peripheral bone, were included. Patients were divided into 2 groups: 36 patients received an 18F-FDG-PET/CT scan prior to their CT-guided bone biopsy (PET group), while 70 patients only had a morphological CT scan (CT group). Histopathology was used to categorize biopsies into five subgroups (inconclusive, benign, malignant or infectious disease, or normal tissue). In the PET group, the number of conclusive biopsies was significantly higher compared to the CT group (N = 33/36 (92%) versus N = 53/70 (76%); p < 0.05). Furthermore, the number of first-try biopsies was lower in the PET group compared to the CT group (1.9 vs. 2.54, p = 0.051). In conclusion, 18F-FDG-PET/CT imaging significantly increased the success rate of first-try CT-guided bone biopsies by showing less inconclusive biopsies and misdiagnosis.

Agreement between frozen section and histopathology to detect malignancy in adnexal masses according to size and morphology by ultrasound.

Management of suspect adnexal masses involves surgery to define the best treatment. Diagnostic choices include a two-stage procedure for histopathology examination (HPE) or intraoperative histological analysis - intraoperative frozen section (IFS) and formalin-fixed and paraffin-soaked tissues (FFPE). Preoperative assessment with ultrasound may also be useful to predict malignancy. We aimed at determining the accuracy of IFS to evaluate adnexal masses stratified by size and morphology having HPE as the diagnostic gold standard. A retrospective chart review of 302 patients undergoing IFS of adnexal masses at Hospital de Clínicas de Porto Alegre, between January2005 and September2011 was performed. Data were collected regarding sonographic size (≤10cm or >10cm), characteristics of the lesion, and diagnosis established in IFS and HPE. Eight groups were studied: unilocular lesions; septated/cystic lesions; heterogeneous (solid/cystic) lesions; and solid lesions, divided in two main groups according to the size of lesion, ≤10cm or >10cm. Kappa agreement between IFS and HPE was calculated for each group. Overall agreement between IFS and HPE was 96.1% for benign tumors, 96.1% for malignant tumors, and 73.3% for borderline tumors. Considering the combination of tumor size and morphology, 100% agreement between IFS and HPE was recorded for unilocular and septated tumors ≤10cm and for solid tumors. Stratification of adnexal masses according to size and morphology is a good method for preoperative assessment. We should wait for final HPE for staging decision, regardless of IFS results, in heterogeneous adnexal tumors of any size, solid tumors ≤10cm, and all non-solid tumors >10cm.