Focal Hyperplasia Research Articles

Diagnostic incidence and pitfalls of rete testis hyperplasia and hyaline globules in a multi-institutional study of 348 testicular germ cell tumors.

The concept of rete hyperplasia with hyaline globules simulating testicular yolk sac tumor was first reported in a mostly retrospective review over 30 years ago. Nonetheless, we continue to encounter examples where this scenario resulted in misdiagnosis. Herein, we sought to investigate the incidence of rete hyperplasia/hyaline globules in germ cell tumors and their associated subtypes and hypothesize an etiology. A consecutive series of 348 germ cell tumor orchiectomies was evaluated for the presence of rete hyperplasia and hyaline globules, with clinicopathologic features recorded. The incidence of rete hyperplasia and/or hyaline globules in our cohort was 30%, with 56% of specimens with rete hyperplasia containing concomitant hyaline globules. Hyaline globules were more often identified in specimens with nonfocal rete hyperplasia (78%) vs focal rete hyperplasia (22%). Absence of a yolk sac tumor component was seen in over half (61%) of orchiectomies with concurrent rete hyperplasia/hyaline globules (n = 105), inclusive of tumors with "pure" subtypes (ie, pure seminoma, pure teratoma, or pure embryonal carcinoma). Of these 105 specimens, rete invasion was seen in only 48%; notably, Paneth cell-like metaplasia was identified in efferent ductules/epididymis in 13%. Rete hyperplasia and hyaline globules are not uncommon findings in the setting of germ cell tumors (including occurrences in various pure/mixed germ cell tumors) and can show striking overlap with yolk sac tumor. We hypothesize that these histologic pitfalls evolve secondary to testicular obstruction by the tumor mass. Recognition of and distinguishing this morphologic mimicry is fundamental to guide appropriate clinical management.

Crashing into Discovery: Nesidioblastosis in Adult, Unmasked post-Motor Vehicle Accident - A Case Study and Literature Review

Abstract Introduction/Objective Nesidioblastosis, characterized by pancreatic duct-derived B-islet cell proliferation, typically manifests with hypoglycemic symptoms. While more common in newborns, it can rarely affect adults. Here, we report an incidental finding of nesidioblastosis in a 37-year-old female following abdominal trauma due to a motor vehicle crash (MVC). Methods/Case Report A 37-year-old female with no notable medical history presented with blunt abdominal trauma following an MVC. The emergency evaluation revealed a grade 4 traumatic splenic laceration and severe hemoperitoneum. Preoperative lab results showed decreased hemoglobin, elevated white cell count, prolonged prothrombin time, and reduced calcium and magnesium levels. The patient underwent a splenectomy along with a distal pancreatectomy. While grossly unremarkable, microscopic examination revealed maintained acinar architecture with focal hyperplasia around pancreatic ducts. Enlarged acinar cells with pleomorphic nuclei and prominent nucleoli were consistent with focal nesidioblastosis. Results (if a Case Study enter NA) NA Conclusion Multiple studies have documented the first reported case of nesidioblastosis in adults was in 1975. While its exact incidence is uncertain, most sources suggest a relative frequency of 0.5 – 7% of persistent hyperinsulinemic hypoglycemia, with estimated overall an annual rate of around 9 per 100,000, with a higher occurrence among females. This unusual incidental discovery of nesidioblastosis in an asymptomatic patient undergoing pancreatic resection for unrelated reasons highlights the likelihood of underestimating the actual prevalence of this disease.

An Unusual Skin Finding in a Rare Case of Goltz Syndrome

Abstract Introduction/Objective Goltz Syndrome (Focal Dermal Hypoplasia) is a rare X linked dominant genetic disorder with various dermatologic, musculoskeletal and neurologic manifestations, secondary to a mutation in the PORCN gene. Skin findings include telangiectasias, raspberry-like papillomas (angiofibroma like lesions), nodular fat herniation, xerosis and photosensitivity. Lesions are bilateral, and asymmetrically distribututed along the lines of Blasco. The adipocytic lesions can be diagnosed via a skin biopsy showing adipose tissue in the superficial epidermis and dermis or via molecular techniques showing a mutation in the PORCN gene. Here we report a case of Goltz Syndrome with unique dermal findings. Methods/Case Report A male infant presented at birth with mild diffuse xerosis, large hypopigmented and depigmented atrophic patches and plaques and multiple pink yellow red exophyitic soft papules distributed asymetrically across the body along the lines of Blascho. Additionally the patient had clinodactly, widely spaced nipples, extra pads of fat in the toes and philtrum and fingernails with longitudal ridges and lateral nail plate deviation. A diagnosis of Goltz syndrome was made via molecular analysis that showed mosiacism at C.502G>A (p.Gly168Arg) in the PORCN gene. The patient had a very superficial 2-3 mm erosion at the intersection between the scrotum and perineum. At 18 months, this had grown to finger like projections and eventually grew into multiple tan red exophytic warty papillomatous telangactatic like lesions measuring 3.0 x 0.8 cm that were painful and bled easily. A biopsy of this lesion showed focal mild epidermal hyperplasia and elongation of the rete ridges with wide spread diffuse vascular proliferation with multiple ectactic vessels along with mild dermal and perivascular inflammatory infiltrates. Also noted was infiltration of mature adipose tissue in the superficial epidermis and dermis. We preformed elastin and trichrome stains to identify if this lesion was reactive in nature or de novo. Our results showed retained elastin staining with a negative trichrome eluding to a denovo process. Additionally GLUT1 was negative, ruling out an infantile hemangioma. The above findings in this lesion do not represent any previously described dermatologic entity. Results (if a Case Study enter NA) NA Conclusion This is a rare and unique dermatologic finding of a case of Goltz sydrome, which itself is a rare disorder. In our literature review, this is the only case of Goltz Syndrome thusfar to have presented with this unique skin lesion.

Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.

Hyperinsulinemic hypoglycemia (HH) of pancreatic origin includes congenital hyperinsulinism (CHI), insulinoma, insulinomatosis, and adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia syndrome (NI-PHHS). In this review, we describe the genotype-histotype-phenotype correlations in HH and their therapeutic implications. CHI can occur from birth or later on in life. Histologically, diffuse CHI shows diffuse beta cell hypertrophy with a few giant nuclei per islet of Langerhans, most frequently caused by loss-of-function mutations in ABCC8 or KCNJ11. Focal CHI is histologically characterized by focal adenomatous hyperplasia consisting of confluent hyperplastic islets, caused by a paternal ABCC8/KCNJ11 mutation combined with paternal uniparental disomy of 11p15. CHI in Beckwith-Wiedemann syndrome is caused by mosaic changes in the imprinting region 11p15.4-11p15.5, leading to segmental or diffuse overgrowth of endocrine tissue in the pancreas. Morphological mosaicism of pancreatic islets is characterized by occurence of hyperplastic (type 1) islets in one or a few lobules and small (type 2) islets in the entire pancreas. Other rare genetic causes of CHI show less characteristic or unspecific histology. HH with a predominant adult onset includes insulinomas, which are pancreatic insulin-producing endocrine neoplasms, in some cases with metastatic potential. Insulinomas occur sporadically or as part of multiple endocrine neoplasia type 1 due to MEN1 mutations. MAFA mutations may histologically lead to insulinomatosis with insulin-producing neuroendocrine microadenomas or neuroendocrine neoplasms. NI-PHHS is mainly seen in adults and shows slight histological changes in some patients, which have been defined as major and minor criteria. The genetic cause is unknown in most cases. The diagnosis of HH, as defined by genetic, histological, and phenotypic features, has important implications for patient management and outcome.

Prevalence of Histopathologic Types of Gingival Lesions in the Iranian Population: A 22-Year Retrospective Study.

Gingiva is one of the supporting tissues around the teeth that can be affected by various neoplastic or nonneoplastic lesions. Previous studies have examined several types of gingival lesions, but the lack of a standardized classification system has hindered meaningful comparisons. Additionally, many studies focused primarily on reactive lesions. Our study aims to contribute to the understanding of gingival lesions by investigating their prevalence across age groups, genders, sites, and by their clinical presentation. This research could lead to improved diagnostic accuracy and treatment strategies. This retrospective study explores the prevalence of gingival lesions based on biopsies during a 22-year span. The patient's demographic details, including age, gender, and lesion's clinical presentation were systematically collected. These lesions were categorized into six groups. Descriptive statistics, χ2 test of independence, and one-way ANOVA were used for data analysis. Among the 7668 biopsied lesions, 684 (8.9%) lesions were located in the gingiva, with a greater occurrence in women (63.5%). Soft tissue tumors represented the most prevalent group in the gingival lesions (72.1%), and peripheral giant cell granuloma (PGCG) was the most frequent lesion (21.2%), followed by, pyogenic granuloma (19.3%), peripheral ossifying fibroma (17.8%) and focal fibrous hyperplasia (7.6%); all of which predominantly affected women, with mean ages falling in the fourth decade of life. Squamous cell carcinoma was recognized as the most common malignancy. In this study, PGCG was found to be the most common lesion in the gingiva in Iranian population. Further analysis using a unanimous categorization is required to confirm these results.

Comparative analysis of morphological changes in the mucosa of the small and large bronchi in non-small cell lung cancer

Background. Despite advances in surgical and therapy techniques, non-small cell lung cancer (NSCLC) is one of the most common cancers and the leading cause of cancer-related death. Therefore, it is increasingly important to search for markers that predict the risk of tumor progression. The study of the morphology of the epithelium of the bronchi of different calibers has great potential for solving this problem. The aim of the study was to comparatively evaluate the characteristics and frequency of occurrence of various combinations of morphological changes in the epithelium of the bronchi of large and small calibers in patients with lung squamous cell carcinoma and lung adenocarcinoma. Material and methods. lung samples were collected from 151 NSCLC patients (stage T1–4N0–3M0), who underwent surgery at the cancer Research institute, TNRMC. Various morphological changes in the bronchial epithelium were analyzed. Results. The study of the frequency of occurrence of various morphological changes in small-caliber bronchi showed that basal cell hyperplasia occurred in 90.8 % of cases. Diffuse isolated basal cell hyperplasia was observed in 33.8 % of cases. Focal basal cell hyperplasia was diagnosed in 38.4 % of cases. A combination of basal cell hyperplasia with squamous metaplasia was observed in 18.5 % of cases. The study of the frequency of occurrence in large-caliber bronchi demonstrated that basal cell hyperplasia was the most common morphological variant (93.4 %, including diffuse isolated basal cell hyperplasia in 33.8 % and focal basal cell hyperplasia in 38.4 %). The combination of basal cell hyperplasia and squamous metaplasia was found in 19.8 %. The combination of basal cell hyperplasia with squamous metaplasia and dysplasia was found in 1.3 % compared to the epithelium of small-caliber bronchi. Conclusion. The obtained results on the frequency of occurrence of morphological changes in large-caliber bronchi are of theoretical interest for further research to identify groups at high risk of progression of non-small cell lung cancer.

Morular Metaplasia of the Endometrium: A Case Report and Literature Review: Care Pathways based on Molecular Biology

Background: Endometrial morular metaplasia, a clinical conundrum from a diagnostic and management angle given its rarity and low oncogenic potential has been linked to endometrial hyperplasia and carcinoma. Case report: A 77-year-old woman with no significant past medical history was found to have an asymptomatic thickened endometrium on pelvic imaging, after presenting with lower abdominal pain, 3 yrs ago. Diagnostic hysteroscopy identified an endometrial polyp within a pyometra. Histopathology showed focal complex hyperplasia without atypia with superimposed morular metaplasia (EMM) amongst negative microbiology. Following conservative management with a Multidisciplinary Team (MDT) overview, as per her choice with 6-monthly follow-up hysteroscopies, endometrial biopsies, and a short use of the Mirena IUS (discontinued due to poor tolerance), histopathology shows resolved hyperplasia with persistent EMM. She is considering a hysterectomy. Discussion: Current evidence suggests that a sub-type of EMM, a likely histological manifestation of beta-catenin (CTNNB1) gene mutation: could be a precursor of endometrial hyperplasia and low-grade endometrioid-endometrial carcinoma sub-type. Though low-grade in nature, the increased recurrence risk raises significant concerns. Management options which include conservative, hormonal, and surgery have been described in the literature. A few cases of premenopausal women have been managed conservatively, with one resulting in a pregnancy. However, due to the lack of a natural history timeline, the optimal frequency of endometrial sampling when uterine-sparing, is unclear, leading to a management conundrum. Conclusion: Management of morular endometrial metaplasia can be difficult but must reflect the woman’s choice with an MDT overview. Immuno-histochemical tools utilizing new molecular biological advances can simplify the diagnostic and prognostication processes, aiding clinical management.

Correlation between hysteroscopic features and specific microbial species in women with chronic endometritis

Objective and rationaleChronic endometritis (CE) has recently been associated with unexplained infertility and recurrent miscarriages. The current gold standard for CE detection is histopathological examination. However, office hysteroscopy and endometrial cultures are also significant, due to the possible link between CE and various microorganisms. Bacterial colonization of the endometrium has been associated with reduced success rates of in vitro fertilisation embryo transfer. Few studies have tried to correlate CE hysteroscopy findings with pathogenic microorganisms. This prospective cohort study sought to establish whether hysteroscopic diagnostic lesions correlate with specific microbial species. MethodsThe study encompassed women undergoing diagnostic tests for a range of subfertility health issues. 189 women completed the standard office diagnostic hysteroscopy (DH). 181 had also endometrial samples taken for microbial culture investigation. Correlation analysis (χ2 and Fisher's exact test) between hysteroscopic findings suggestive of CE and endometrial cultures was carried out. Logistic regression models were also fitted to measure whether a positive endometrial culture could affect CE conditions. ResultsA significant association of E. coli was observed between the hysteroscopically characterized CE + group with focal hyperplasia, when compared to the non–CE group. Logistic regression analysis revealed that women positive for E. coli were 4.423 times more likely to have focal endometrial hyperplasia. No other significant correlations were identified between DH and positive endometrial cultures. ConclusionsThe presence of E. coli in the endometrium was significantly correlated with focal hyperplasia findings from hysteroscopy, emphasizing the importance of microbial cultures in the diagnosis and targeted treatment of CE in women with subfertility.

AUTOTRANSPLANTATION WITH EXTRACORPORAL RECONSTRUCTION OF RENAL VESSELS: A CLINICAL CASE OF “THE NUTCRACKER SYNDROME” AND LEFT RENAL ARTERIES HYPOPLASIA COMBINATION

Ex vivo kidney autotransplantation with renal artery reconstruction is an effective method of surgical correction of vascular abnormalities (fibromuscular dysplasia, hypoplasia, and renal artery aneurysms) showing good long-term results. The combination of renal artery abnormalities with aorto-mesenteric compression syndrome (“the nutcracker” syndrome) is extremely rare and complicates the diagnosis making greatly. Renal artery hypoplasia is an abnormality that is rarely diagnosed and may not manifest clinically in the absence of contralateral kidney pathology as well as its vascular structures. Renal hypoplasia may be caused by mutations in the kidney development genes (HNF1B, PAX2, PBX1) and/or several environmental factors such as intrauterine growth retardation, maternal diseases (diabetes, hypertension), medication taken by the mother (renin-angiotensin system inhibitors or nonsteroidal anti-inflammatory drugs) and intoxication (smoking and alcohol). Premature delivery (before the 36th week) is also a risk factor due to incomplete nephrogenesis. Renal arteries hypoplasia is associated with fibromuscular dysplasia in most cases. The disease is characterized by non-inflammatory non-uniform focal hyperplasia of the renal artery wall with damage to small and medium arteries. Simultaneous damage to two or more vascular segments is detected in 25% of patients.
 A clinical case of successful treatment of “the nutcracker” syndrome (annular renal vein) combined with hypoplasia of the left main and accessory renal arteries associated with fibromuscular dysplasia is described. A 27-year-old female was admitted to the Department of Vascular Surgery of Municipal Noncommercial Enterprise of the Lviv Regional Council “Lviv Regional Clinical Hospital” on October 4, 2021, with complaints of pain in the left lumbar region and the left half of the abdomen, hematuria, proteinuria, a persistent increase in blood pressure. Ultrasound of the renal veins: the left renal vein in the aorto-mesenteric segment was not visualized, the posterior portion of the left renal vein was determined. Peak systolic velocity was up to 230 cm/s at the point of confluence with the inferior vena cava and 28 cm/s more distally. The vein was up to 12.0 mm in the renal hilum and up to 11.0 mm in the middle third. MSCT of the abdominal cavity, retroperitoneal space and pelvic organs: CT signs of pyelonephritis of the left kidney. Hypoplasia of the left kidney. Reactive para-aortic lymphadenopathy on the left. Hypoplastic left renal artery (3,8 mm) and presense of accessory ones, annular left renal vein. Angiomyolipoma of the right kidney (2,6 cm). Varicose veins of the small pelvis on the left. The patient underwent surgical treatment, namely ex vivo autovenous prosthetic repair of the left renal artery with autotransplantation of the left kidney. The course of the postoperative period was without complications, the reconstruction was functioning. Ultrasound of the renal vessels (1 week after the surgery): the blood flow was located in the renal hilum in the course of Doppler sonography of intrarenal branches. Venous outflow was unobstructed. Corticomedullary differentiation was marked satisfactorily.
 The study presented by us demonstrates the effectiveness of kidney autotransplantation for the correction of renal vascular abnormalities.
 Though of a solitary nature, the combination of renal vessels abnormalities complicates significantly the course of the disease and the possibilities of this pathology diagnostics.

Prevalence and Pattern of Oral and Maxillofacial Pathology in Al‐Qassim Region, Saudi Arabia

Objective: The purpose of this study is to determine the prevalence and features of oral and maxillofacial lesions found in the residents of Al‐Qassim region, Saudi Arabia.Methods: A retrospective study was conducted at King Fahad Specialist Hospital, Buraidah, Qassim, KSA. The data for all biopsied oral and maxillofacial lesions were retrieved from January 2014 until August 2022. All patients’ data including age, gender, location of the lesion, and histopathologic diagnosis were reviewed and analyzed using IBM SPSS version 23 and Microsoft Excel.Results: A total of 381 oral pathology biopsies for individuals aged 18 and above were included in a descriptive analysis. One hundred ninety five (51.18%) of patients were male, and 186 (48.82%) were female. The site most commonly biopsied was the oral mucosa (26%). The diagnosis was categorized according to the histopathological diagnosis into 13 categories including all pathological lesions in the oral and maxillofacial area. The frequently biopsied category was soft tissue pathological lesion category (26%), second to that is the odontogenic cyst category (22%), and third is the immunological‐mediated lesion category (13%). The sub‐diagnosis that was mostly observed was radicular cyst, lichen planus, and focal fibrous hyperplasia with the percentages of 13.6%, 10.8%, and 9.4%, respectively.Conclusion: The findings provide important information about the oral and maxillofacial pathology in Al‐Qassim region, Saudi Arabia. This study found that biopsied oral lesions were more prevalent in males and in patients in the fourth decade of life. The oral mucosa was the most biopsied site, and the majority of the biopsies were soft tissue pathological lesions and radicular cyst was the most frequent diagnosis. Knowledge of such demographic and clinical features of oral and maxillofacial pathology cases helps in prediction of disease incidence and subsequent proper patient care in the region.

Isolation and Identification of a Genotype C Bovine Parainfluenza Virus Type 3 and Its Pathogenicity in Albino Guinea Pigs

Bovine parainfluenza virus type 3 (BPIV3) is a significant pathogen in cattle, causing a range of respiratory symptoms from mild to severe. In this study, we isolated a BPIV3 (BPIV3/SX/2021) strain using Madin-Darby bovine kidney cells from a lung tissue sample obtained in Shaanxi province. The full length of the BPIV3/SX/2021 strain is 15,474 nt, encoding six structural and three accessory proteins. A phylogenetic analysis revealed that SX2021strain belongs to BPIV3 genotype C, and the isolate shares the highest sequence homology with the other genotype C strains isolated in China. A genetic comparison of the BPIV3c strain isolated in China showed that some amino acid residues have mutations in the F and HN genes that affect the protein structure. Animal challenge experiments showed that experimental infection of guinea pigs with the BPIV3c strain SX2021 displayed depression and dyspnea clinical signs. Histopathological analysis of the lung and trachea showed that morphological changes consisted of lesions of bronchial epithelial cell shedding, alveoli septa thickening, focal fiber hyperplasia, and macrophage infiltration. The virus load analysis indicated that the SX2021 strain displayed a higher replication level in the lungs and trachea. These results provide strong evidence that the evolution of BPIV3, and the isolated BPIV3 strain SX2021 provide useful data to determine the pathogenesis of the virus.

SAT508 Siblings With Heterozygous DICER1 c.322C>T, pGln108* Variant: A Novel Genetic Variant for DICER1 Syndrome

Abstract Disclosure: N.L. Yamashita: None. J. Austin: Consulting Fee; Self; Ascendis, Vertice. Research Investigator; Self; IBSA Pharmaceuticals. Background: Several genetic variants are implicated in DICER1 syndrome - a neoplasm predisposition syndrome with a spectrum of presentations with both benign and malignant tumors. DICER1 c.322C>T, pGln108* variant is a new mutation that was found in this case of two siblings presenting with thyroid cancers. Clinical case: Sibling A is a 10-year-old female who presented to the emergency department (ED) with a rapidly progressing right neck mass. She underwent fine needle aspiration (FNA) that returned as Follicular Lesion of Undetermined Significance (FLUS), Bethesda III. Subsequently, she had a right lobectomy, and pathology results revealed multiple follicular adenomatous nodules with focal papillary hyperplasia. Approximately one year later, she re-presented with a new left sided neck swelling with ultrasound revealing three new nodules. She underwent left lobectomy and pathology showed follicular variant papillary thyroid carcinoma (FVPTC). She was started on levothyroxine replacement daily. Her surveillance regimen included I-123 thyroid uptake scans which showed uptake in the neck. Her TSH-stimulated thyroglobulin was as high as 4.3 ng/mL with negative thyroglobulin antibody titer. She did not receive radioactive iodine ablation (RAI). Since then, routine thyroglobulin levels have remained low and neck ultrasounds have been reassuring. She is currently 19 years old. Approximately three years after Sibling A’s second lobectomy, her sister, Sibling B, presented as an 11-year-old female to the ED with neck swelling. Thyroid ultrasound showed multiple solid and cystic nodules on both right and left thyroid lobes. FNA returned with Bethesda Category IV (suspicious for follicular neoplasm) on the left lower nodule and Bethesda II (benign follicular nodule) on other nodules. She underwent total thyroidectomy and was found to have follicular thyroid carcinoma (FTC). TSH-stimulated thyroglobulin was as high as 8.9 ng/mL. Her surveillance thyroid scan showed uptake in the right thyroidectomy bed and 1.6 cm nodule was found on ultrasound. FNA of this lesion was benign with stable repeat thyroid scans with downtrending TSH-stimulated thyroglobulin. This patient is currently 15 years old. Soon after the Sibling B was diagnosed with FTC, the decision was made to pursue genetic analysis. Both siblings underwent mutation analysis which were both positive for heterozygous DICER1 c.322C>T, pGln108* variant.Conclusion: This case introduces a novel variant to DICER1 syndrome: DICER1 c.322C>T, pGln108* variant. Without a family history of multinodular goiter (MNG), thyroid cancers, or other associated tumors to this syndrome, these siblings had unusual presentations of a germline DICER1 syndrome variant. This case highlights the expressive variability in DICER1 syndrome and this variant may be of consideration when children present without other predisposing tumors. Presentation Date: Saturday, June 17, 2023

Low-coverage whole-genome sequencing for the effective diagnosis of early endometrial cancer: A pilot study

BackgroundEndometrial carcinoma (EC) is a disease that predominantly affects peri- and post-menopausal women and its incidence has continued to rise over recent years. Since the gold standard for EC diagnosis—hysteroscopic biopsy—is invasive, expensive, and unsuitable for wide use, there is an urgent need for a non-invasive method that exhibits both high sensitivity and high specificity. We therefore investigated the efficacy of UterCAD (the uterine exfoliated cell chromosomal aneuploidy detector) using tampon-collected specimens for the early detection of EC. MethodsWe prospectively recruited 51 patients with a history of abnormal bleeding and who planned to undergo hysteroscopic examination or hysterectomy between March 2020 and January 2021. Before executing an invasive procedure, a tampon was inserted into the patient's vagina for 6 h to collect exfoliated cells from the uterine cavity. Total DNA was extracted and low-coverage whole-genome sequencing was performed on an Illumina HiSeq X10, and we analyzed the differences in chromosomal status between women with EC and those bearing benign lesions using UterCAD. ResultsThirty EC patients—including 26 with endometrioid carcinoma (EEC) and four with uterine serous carcinoma (USC), as well as 14 benign cases—were enrolled in our final analysis. Copy-number variations (CNVs) were detected in tampon specimens collected from 26 EC patients (83.3%), including 21 with EEC (80.7%) and four with USC (100%). In the benign group, only one woman with focal atypical hyperplasia presented with a 10q chromosomal gain (P < 0.001). In the EC group, the most common CNVs were copy gains of 8q (N = 14), 2q (N = 4), and 10q (N = 3); and copy losses of 2q (N = 3) and 17p (N = 2). When we stratified by FIGO stage, the CNV rates in stages IA, IB, and II/III were 83.3% (15/18), 85.7% (6/7), and 80.0% (4/5), respectively. At the optimal cutoff (|Z| ≥ 2.3), UterCAD discriminated 83.3% of EC cases from benign cases, with a specificity of 92.9%. ConclusionsWe initially reported that UterCAD could serve as a non-invasive method for the early detection of EC, especially in the rare and aggressive USC subtype. The use of UterCAD might thus avoid unnecessary invasive procedures and thereby reduce the treatment burden on patients.

Is carotid web an arterial wall dysplasia? A histological series

IntroductionDescribed for 60 years under various names, the carotid web is a suspected cause of cryptogenic stroke, especially in young patients. The web creates an intraluminal protrusion that may contribute to turbulent flow and thrombus embolization into cerebral arteries. Although the carotid web has frequently been related to arterial fibrodysplasia, its natural history and pathological description remain unclear. PatientsAmong all consecutive patients admitted to the stroke unit of Sainte-Anne Hospital and referred to the vascular surgery department from January 2015 to December 2022, we retrospectively identified 9 patients with a carotid web. The surgical specimens of the 9 patients were submitted to systematic pathological analysis. ResultsThe patients with a histologically confirmed carotid web were young (median age was 42 years), prominently women (7/9), and presenting with low cardiovascular risk. Eight patients had a stroke proven by a magnetic resonance imaging, and 1 had transient monocular amaurosis. The typical pathological lesion supporting the imaging pattern of the carotid web was a focal eccentric intimal hyperplasia forming a protruding lesion characterized by a population of vascular smooth muscle cells intermingled in an abundant, most often loose extracellular matrix. Pathologically proven thrombus was observed in 4 cases. Importantly atherosclerosis was absent. ConclusionHistological features in our 9 cases strengthen carotid web characterization as a homogeneous pattern of localized intimal hyperplasia. It is a unique entity consistent with intimal fibroplasia, distinct from medial fibromuscular dysplasia and early atherosclerosis.

The T1 Ratio of Marrow (TROM) as a Novel Tool to Identify Metastatic from Nonmalignant Marrow Lesions of the Spine: A Pilot Study.

Objective The purpose of this study was to analyze quantitative values of normal and abnormal marrow on T1-weighted images of spine, to propose a ratio for T1 values of abnormal to normal vertebrae, and to assess whether this ratio could be helpful in predicting presence of neoplastic lesions in the spine. Materials and Methods One-hundred randomly selected magnetic resonance imagings of lumbar spine without infection, fracture, and tumor were selected to form normal cohort. A second cohort of 100 metastasis of lumbar spine was identified. Ratio of T1 value of vertebral body to the T1 value of the inferior vertebral body was performed for normal cohort from D11 to L5. Ratio of T1 value of metastasis to adjacent normal vertebral body was done for metastatic cohort. Data was analyzed using standard t -test and kappa was performed for intra- and inter-observer reliability. Results A decline in T1 value of abnormal to normal marrow was seen in patients with metastasis that was statistically significant. We call this the T1 ratio of marrow (TROM). The sensitivity and accuracy with the cutoff value of TROM at 0.7 (92% sensitivity, 97.1% accuracy) are better than at 0.6 (75% sensitivity, 96.2% accuracy) or 0.5 (47% sensitivity, 93.2% accuracy). A subset analysis of the other T1 hypointense benign lesions including atypical hemangiomas and focal marrow hyperplasia, however, revealed overlapping TROM values with the metastatic cohort. Conclusion Using the TROM on T1-weighted images could not confidently differentiate malignant from benign T1 hypointense lesions of the spine.

A large-cohort study of 2971 cases of epulis: focusing on risk factors associated with recurrence

BackgroundTo analyze the clinicopathological features of different histological subtypes of epulis, and evaluate the risk factors associated with recurrence.Materials and methodsA retrospective study including 2971 patients was performed. The patients’ sex, age, location, size, histological subtypes, recurrence information, oral hygiene habits, periodontitis symptoms and smoking history were retrieved from the patient medical records and follow-up information.ResultsAmong the 2971 cases, focal fibrous hyperplasia (FFH) was the most common lesion (60.92%), followed by peripheral ossifying fibroma (POF) (29.32%), pyogenic granuloma (PG) (8.08%) and peripheral giant cell granuloma (PGCG) (1.68%). The peak incidence of epulis was in the third and fourth decade of life, with a mean age of 45.55 years. Female predominance was found in all types of lesions with a female to male ratio of 1.71:1. PG had the highest recurrence rate (17.18%), followed by POF (12.98%), FFH (9.55%) and PGCG (8.82%). Histological subtypes were significantly correlated with the recurrence of epulis (P = 0.013). Regular supportive periodontal therapy (P = 0.050) had a negative correlation with recurrence, whereas symptoms of periodontitis (P < 0.001) had a positive correlation with the recurrence of epulis.ConclusionsControlling the periodontal inflammation and regular supportive periodontal therapy might help reduce the recurrence of epulis.

ASO Visual Abstract: Is Surgical Excision of Focal Atypical Ductal Hyperplasia Warranted? Experience at a Tertiary Care Center.

ASO Visual Abstract: Is Surgical Excision of Focal Atypical Ductal Hyperplasia Warranted? Experience at a Tertiary Care Center.

Pyogenic granuloma in a 6-year-old boy - a rare case report

The gingiva, also known as the gums, is the pink-coloured keratinized mucosa that surrounds and protects the teeth. Gingival enlargement or gingival overgrowth, a common trait of gingival disease, is characterized by an increase in the size of gingiva. Irritation fibroma is an exophytic soft tissue mass in the oral mucosa. Indeed, it is not a real neoplasm, but a focal hyperplasia of fibrous connective tissue induced by local trauma or chronic irritation. Pyogenic granuloma is one of the inflammatory hyperplasia seen in the oral cavity, majority are found on the marginal gingiva with only 15% of the tumours on the alveolar part. It predominantly occurs in the second decade of life in young females, male to female ratio is 1:99, and size of lesion varies in diameter from few millimetres to several centimetres. This article presents a case of pyogenic granuloma in an 6year old boy who presented with a gingival overgrowth in his mandibular left buccal surface region i.r.t 31 including marginal and attached gingiva. He had discomfort during mastication, interferes with occlusion there was episode of bleeding during brushing. The lesion was excised and histopathological report confirmed the diagnosis. Case was followed up for six months and no recurrence of the lesion. Etiological factors, clinical features, differential diagnosis and different treatment options are discussed based on the review of current literature available.

Is Surgical Excision of Focal Atypical Ductal Hyperplasia Warranted? Experience at a Tertiary Care Center.

The core-needle biopsy (CNB) diagnosis of atypical ductal hyperplasia (ADH) generally mandates follow-up excision, but controversy exists on whether small foci of ADH require surgical management. This study evaluated the upgrade rate at excision of focal ADH (fADH), defined as 1 focus spanning ≤2mm. We retrospectively identified in-house CNBs with ADH as the highest-risk lesion obtained between January 2013 and December 2017. A radiologist assessed radiologic-pathologic concordance. All CNB slides were reviewed by two breast pathologists, and ADH was classified as fADH and nonfocal ADH based on extent. Only cases with follow-up excision were included. The slides of excision specimens with upgrade were reviewed. The final study cohort consisted of 208 radiologic-pathologic concordant CNBs, including 98 fADH and 110 nonfocal ADH. The imaging targets were calcifications (n=157), a mass (n=15), nonmass enhancement (n=27), and mass enhancement (n=9). Excision of fADH yielded seven (7%) upgrades (5 ductal carcinoma in situ (DCIS), 2 invasive carcinoma) versus 24 (22%) upgrades (16 DCIS, 8 invasive carcinoma) at excision of nonfocal ADH (p=0.01). Both invasive carcinomas found at excision of fADH were subcentimeter tubular carcinomas away from the biopsy site and deemed incidental. Our data show a significantly lower upgrade rate at excision of focal ADH than nonfocal ADH. This information can be valuable if nonsurgical management of patients with radiologic-pathologic concordant CNB diagnosis of focal ADH is being considered.

A singular manifestation of focal fibrous hyperplasia on the lateral border on both sides of the tongue – A case report and literature review

Focal fibrous hyperplasia (FFH) is a pathology characterized by tissue enlargement as a result of increasing the number of inflammatory cells which receive chronic mechanical stimuli of low intensity that may affect gums, lip, palate, jugal mucosa and tongue. The aim of this article is to report a case of FFH on the lateral border on both sides of the tongue associated with the use of the Hyrax appliance in a hebiatric patient, whose chief complaint was chewing discomfort. This case was successfully treated by surgical excision as well as the removal of Hyrax appliances. Follow-up care provided the recovery of the patient's quality of life.