International Journal of Gynecological Pathology最新文献

Universal Molecular Testing for Endometrial Cancers: Institutional Experience and Focus on Phenotypic and Clinical Characterization of POLE-mutated Cases. 子宫内膜癌的普遍分子检测：机构经验和对极点突变病例的表型和临床特征的关注。

IF 1.7 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-05-08 DOI: 10.1097/PGP.0000000000001181

Laura Warren, Courtney Connelly, Susan J Hsiao, Mahesh M Mansukhani, Xiaowei Chen, Adela Cimic, Rachelle Mendoza, Xiaolin Liu-Jarin, Marie C Smithgall

{"title":"Universal Molecular Testing for Endometrial Cancers: Institutional Experience and Focus on Phenotypic and Clinical Characterization of POLE-mutated Cases.","authors":"Laura Warren, Courtney Connelly, Susan J Hsiao, Mahesh M Mansukhani, Xiaowei Chen, Adela Cimic, Rachelle Mendoza, Xiaolin Liu-Jarin, Marie C Smithgall","doi":"10.1097/PGP.0000000000001181","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001181","url":null,"abstract":"Molecular classification of endometrial tumors is now incorporated into the 2023 FIGO staging criteria. The POLE-mutated (POLEmut) subtype is reported to have a favorable prognosis despite aggressive morphologic features. Our institution began universal molecular testing for newly diagnosed endometrial cancers in April 2023. In this study, we describe our institutional experience with this testing and specifically highlight POLEmut endometrial cancers. We aimed to compare the molecular and histopathologic profiles of POLEmut endometrial carcinomas with and without aggressive histopathologic features. A total of 198 endometrial cancer cases were analyzed by a targeted next-generation sequencing panel. We reviewed the results for all cases from April 2023 to December 2024 and for cases with pathogenic POLE exonuclease domain/proofreading mutation, collected relevant molecular, clinical data, immunohistochemical, and resection histopathology if available. Aggressive histopathology was defined as having at least one of the following: FIGO grade 3, ≥ stage pT1b, or lymphovascular invasion. Of 198 tested endometrial cancers, 40.9% (n=81) had no specific molecular profile, 33.8% (n=67) were p53 abnormal, 19.7% (n=39) were MMRd, and 5.6% (n=11) had POLE exonuclease domain/proofreading mutations associated with the ultramutated phenotype. At least one aggressive histopathologic feature was seen in 5/10 POLEmut cases that had resection specimens. TP53 variants were present in 5/11 POLE specimens and were often subclonal. Without sequencing, 4 POLEmut cases would have been misclassified as either p53 abnormal or MMRd. There was no significant difference in biomarker results, molecular variants, or clinical outcomes between cases with aggressive or nonaggressive histopathologic features.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Stepwise Increase of Carboxypeptidase E and Altered ALDH1A1 Expression During Cervical Carcinogenesis: A Retrospective Immunohistochemical Study. 宫颈癌发生过程中羧基肽酶E的逐步增加和ALDH1A1表达的改变：一项回顾性免疫组织化学研究。

IF 1.7 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-05-08 DOI: 10.1097/PGP.0000000000001182

Tevfik Berk Bildaci, Selcuk Erkilinc, Ilker Cakir, Ayse Gul Pulular, Gulden Diniz

{"title":"Stepwise Increase of Carboxypeptidase E and Altered ALDH1A1 Expression During Cervical Carcinogenesis: A Retrospective Immunohistochemical Study.","authors":"Tevfik Berk Bildaci, Selcuk Erkilinc, Ilker Cakir, Ayse Gul Pulular, Gulden Diniz","doi":"10.1097/PGP.0000000000001182","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001182","url":null,"abstract":"Cervical carcinogenesis involves progressive molecular changes from preinvasive lesions to invasive carcinoma. Carboxypeptidase E (CPE) and aldehyde dehydrogenase 1A1 (ALDH1A1) have been implicated in cancer-related pathways, yet their stage-specific immunohistochemical expression patterns in cervical disease remain insufficiently characterized. This retrospective, specimen-based study assessed immunohistochemical expression of CPE and ALDH1A1 in cervical samples representing reactive/low-grade squamous intraepithelial lesions (LSIL), high-grade squamous intraepithelial lesions (HSIL), and invasive carcinoma. Staining was semi-quantitatively scored using standardized criteria. Group differences were analyzed with Kruskal-Wallis tests followed by post hoc comparisons, and monotonic trends across ordered disease stages were evaluated using the Jonckheere-Terpstra test. CPE expression differed significantly among disease groups, showing a stepwise increase from reactive/LSIL to HSIL and invasive carcinoma (P<0.001). Post hoc analyses confirmed higher CPE expression in HSIL and invasive carcinoma compared with reactive/LSIL lesions, with a further increase in invasive disease. ALDH1A1 expression did not differ between reactive/LSIL and HSIL groups but was significantly higher in invasive carcinoma. Trend analysis demonstrated significant monotonic increases for both markers across disease stages (P<0.001). This study provides a standardized, stage-specific immunohistochemical evaluation of CPE and ALDH1A1 in cervical lesions, highlighting progressive CPE upregulation and invasion-associated ALDH1A1 expression, and adds methodological clarity to the existing literature.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

HER2 and FOLR1 Expression in Mesonephric and Mesonephric-Like Adenocarcinomas in the Gynecologic Tract. HER2和FOLR1在妇科中系肾和中系肾样腺癌中的表达。

IF 1.7 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-05-07 DOI: 10.1097/PGP.0000000000001187

Eyas Alzayadneh, Megan E Dibbern, Joseph Rabban, Oluwole Fadare, Anne M Mills

{"title":"HER2 and FOLR1 Expression in Mesonephric and Mesonephric-Like Adenocarcinomas in the Gynecologic Tract.","authors":"Eyas Alzayadneh, Megan E Dibbern, Joseph Rabban, Oluwole Fadare, Anne M Mills","doi":"10.1097/PGP.0000000000001187","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001187","url":null,"abstract":"Mesonephric adenocarcinoma (MA) of the cervix and mesonephric-like adenocarcinoma (MLA) of the endometrium and ovaries are rare, aggressive tumors showing limited response to standard therapy. The DESTINY-PanTumor02 study demonstrated strong responses to Trastuzumab Deruxtecan (T-Dxd), an antibody-drug conjugate targeting HER2, in multiple HER2+ chemoresistant tumors, including gynecologic carcinomas. Mirvetuximab soravtansine (MIRV), which targets folate receptor-1 (FOLR1), is FDA-approved for platinum-resistant tubo-ovarian cancers with ≥75% moderate/strong staining, and emerging studies show meaningful responses to MIRV combination therapy even at lower FOLR1 expression. The National Comprehensive Cancer Network (NCCN) also recommends T-Dxd as second-line therapy for recurrent HER2 (2-3+) endometrial carcinoma. However, these biomarkers have not been adequately evaluated in MA/MLA. We assessed HER2 and FOLR1 immunohistochemical expression in 21 MA/MLA cases (13 endometrial, 5 ovarian, 3 cervical). HER2 was scored using endometrial cancer guidelines (EC) and American Society of Clinical Oncology/College of American Pathologists (ASCO/CAP) gastric/gastroesophageal criteria (GaC). FOLR1 scoring followed MIRV eligibility thresholds. HER2 expression was present in 14/21 tumors; HER2 (2+) was seen in two cases by both criteria, with no HER2 (3+) identified. The other 12 cases showed HER2 (1+) by EC criteria, while only four met 1+ by GaC criteria. FOLR1 met current MIRV treatment criteria in one case, while ten others showed expression ranging from 5% to 70%. Although most tumors did not meet current biomarker thresholds for Trastuzumab or MIRV monotherapy, detectable expression supports exploring anti-HER2 T-Dxd and MIRV combination treatments in selected MA/MLA cases.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Endometrial Endometrioid Carcinomas With Signet Ring Cells: Report of a Case Series With Detailed Clinical, Pathologic, and Molecular Analysis. 子宫内膜样癌伴印戒细胞：一系列详细临床、病理和分子分析的病例报告。

IF 1.7 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-05-07 DOI: 10.1097/PGP.0000000000001183

Megan Ryan, Jennifer Taylor, Lauren McConnell, Mark Catherwood, W Glenn McCluggage

{"title":"Endometrial Endometrioid Carcinomas With Signet Ring Cells: Report of a Case Series With Detailed Clinical, Pathologic, and Molecular Analysis.","authors":"Megan Ryan, Jennifer Taylor, Lauren McConnell, Mark Catherwood, W Glenn McCluggage","doi":"10.1097/PGP.0000000000001183","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001183","url":null,"abstract":"Signet ring cells are extremely rare in primary endometrial carcinomas with a limited number of reported cases. We report a series of 5 endometrioid-type endometrial carcinomas with signet ring cells, the largest reported series in the literature to date. The patients ranged in age from 53 to 89 yr (mean: 72), and all presented with postmenopausal bleeding. Four of the tumors were FIGO grade 3, and 1 FIGO grade 2, and the FIGO stages were IA, IB, IIIA, IIIB, and IIIC1. The percentage of signet ring cells ranged from 10% to 30% of the tumor, and the signet ring cells were confined to solid areas of the neoplasm. All tumors were positive with estrogen receptor (ER) (4 diffuse, 1 focal); p53 immunohistochemistry was wild-type in 4 and diffuse mutation-type in 1. Three neoplasms were mismatch repair (MMR) deficient (loss of MLH1/PMS2) on immunohistochemistry. Molecular testing revealed a POLE pathogenic variant with an associated ultramutated phenotype in one of the MMR-proficient tumors and a TP53 mutation in the tumor exhibiting mutation-type p53 staining (this was also MMR proficient on immunohistochemistry). Using The Cancer Genome Atlas (TCGA) molecular classification, tumors were POLE mutated (n=1), MMR deficient (n=3), and p53 abnormal (n=1). On follow-up, 4 patients were alive with no evidence of disease (4-24 mo follow-up), and 1 patient died 7 mo after diagnosis from an unrelated cause. In reporting these neoplasms, we highlight that signet ring cells occasionally occur in primary endometrial carcinomas of endometrioid-type and, although numbers are small, there appears to be an association with MMR deficiency. These tumors have a propensity for high-stage at presentation.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnostic Proficiency of Large Language Models in the Interpretation of Cervical Cytopathology. 大语言模型在宫颈细胞病理学解释中的诊断能力。

IF 1.7 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-05-06 DOI: 10.1097/PGP.0000000000001168

Iason Psilopatis, Kleio Vrettou

{"title":"Diagnostic Proficiency of Large Language Models in the Interpretation of Cervical Cytopathology.","authors":"Iason Psilopatis, Kleio Vrettou","doi":"10.1097/PGP.0000000000001168","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001168","url":null,"abstract":"To evaluate the diagnostic proficiency of well-established multimodal Large Language Models (LLMs)-specifically Gemini, Claude, and Copilot-in interpreting cervical cytopathology (PAP smears). This diagnostic accuracy study used 30 representative cases from the \"Cytopathology of the Uterine Cervix-Digital Atlas,\" which represented the gold standard. The models were tested using a standardized, zero-shot prompt to distinguish between normal cells, benign modifications (infections), and cervical cell abnormalities. The models demonstrated significant variability. While Gemini and Copilot showed high proficiency (90%) in identifying normal physiological morphology, performance declined sharply for infectious pathogens and dysplastic/neoplastic lesions. Notably, all models misclassified several invasive carcinomas as benign or low-grade lesions. Claude exhibited a high rate of \"diagnostic escalation,\" frequently misidentifying normal cells as having abnormalities. Current LLMs are inadequate for the definitive diagnosis of cervical dysplasia and malignancy due to significant rates of overdiagnosis and failure to detect invasive carcinomas. They should be viewed as emerging educational aids rather than autonomous diagnostic tools, requiring rigorous human oversight.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Illustrating the "Quiet Genome" Concept of SMARCA4-Deficient Uterine Sarcoma Via Whole-Exome Sequencing: A Highly Aggressive Case in a Young Woman. 通过全外显子组测序阐明smarca4缺陷子宫肉瘤的“安静基因组”概念：一名年轻女性的高度侵袭性病例。

IF 1.7 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-05-06 DOI: 10.1097/PGP.0000000000001185

Hiroshi Yoshida, Kouya Shiraishi, Taro Yamanaka, Mitsuya Ishikawa

{"title":"Illustrating the \"Quiet Genome\" Concept of SMARCA4-Deficient Uterine Sarcoma Via Whole-Exome Sequencing: A Highly Aggressive Case in a Young Woman.","authors":"Hiroshi Yoshida, Kouya Shiraishi, Taro Yamanaka, Mitsuya Ishikawa","doi":"10.1097/PGP.0000000000001185","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001185","url":null,"abstract":"SMARCA4-deficient undifferentiated uterine sarcoma (SDUS) is a rare, highly aggressive SWI/SNF-deficient malignancy that can morphologically overlap with undifferentiated endometrial carcinoma (UDEC). Although prior targeted sequencing studies have suggested that SDUS often has a \"quiet genome,\" exome-wide corroboration remains limited. We report a 23-yr-old woman who presented with a >15 cm uterine mass and underwent hysterectomy with bilateral salpingo-oophorectomy, followed by rapid peritoneal dissemination and para-aortic metastases within 2 mo. The disease was refractory to gemcitabine/docetaxel and the patient died 6 mo postoperatively. Histologically, the tumor consisted of sheets of monomorphic undifferentiated epithelioid cells with rhabdoid features, focal phyllodes-like architecture entrapping benign endometrial glands and stromal hyalinization, and no identifiable carcinomatous component. Immunohistochemistry demonstrated complete loss of SMARCA4 (BRG1) and SMARCA2 (BRM) with retained SMARCB1 (INI1), a wild-type p53 pattern, intact mismatch repair protein expression, and negativity for claudin-4 and SOX2. Whole-exome sequencing with copy-number analysis of paired tumor and nontumor tissue identified biallelic SMARCA4 inactivation (somatic frameshift deletion c.3717del, p.W1239fs; VAF 0.89) with loss of heterozygosity at 19p13.2, microsatellite stability, and low tumor mutational burden (0.70 mut/Mb), without additional canonical driver mutations; notably, no TP53 mutation was detected despite hemizygous 17p loss. A focal copy-number gain involving the BRCA1 locus was also identified; however, its biological significance remains uncertain. This case provides exome-wide support for the \"quiet genome\" concept in SDUS and underscores its biological distinction from UDEC. Comprehensive genomic profiling may assist diagnosis in this aggressive malignancy.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expanded Histologic Lineage and Origin of Mesonephric-Like Adenocarcinoma: A Clinicopathologic Study of 9 Cases. 9例中肾样腺癌的组织学谱系和起源：临床病理研究。

IF 1.7 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-05-01 Epub Date: 2025-12-31 DOI: 10.1097/PGP.0000000000001154

Yuxiang Shi, Xiaojuan Lyu, Jing Zheng, Bo Luo, Li Li, Bin Li, Ruiting Li, Hongfeng Zhang

{"title":"Expanded Histologic Lineage and Origin of Mesonephric-Like Adenocarcinoma: A Clinicopathologic Study of 9 Cases.","authors":"Yuxiang Shi, Xiaojuan Lyu, Jing Zheng, Bo Luo, Li Li, Bin Li, Ruiting Li, Hongfeng Zhang","doi":"10.1097/PGP.0000000000001154","DOIUrl":"10.1097/PGP.0000000000001154","url":null,"abstract":"Mesonephric-like adenocarcinoma (MLA) is a rare gynecologic malignancy primarily arising in the uterine corpus and ovaries. It shares remarkable similarities in its histomorphology, immunophenotype, and molecular features with mesonephric adenocarcinoma of the cervix. Controversy remains regarding whether the MLA originates from the mesonephric or Müllerian ducts. In this study, we retrospectively analyzed the clinicopathologic, immunohistochemical, and molecular characteristics of 9 MLA cases. Among these, we observed 2 unique cases for the first time: 1 case of ovarian MLA coexisting with a benign mucinous cystadenoma and 1 case of MLA located on the cervical mucosal surface. In addition, 1 case presented with a mesenteric MLA component intermixed with clear cell carcinoma, and endometriosis was detected around the cancerous tissue and in the adjacent ovary. Of the remaining 6 cases, 3 were associated with endometriosis or adenomyosis. Next-generation sequencing of 7 cases revealed KRAS mutations in 5 cases and mutations in PTEN/BRAF and ERBB3 in 1 case each. The identification of MLA in atypical locations such as the mesentery and cervical mucosa expands the histologic spectrum of this tumor and provides further support for the hypothesis of a Müllerian epithelial origin. The findings of this study broaden the known morphologic and anatomic distribution of MLA and contribute to a better understanding of its pathogenesis.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"200-209"},"PeriodicalIF":1.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147289832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Primary Ovarian Pleomorphic Adenoma of Salivary Gland Type: Report of A Unique Case With A HMGA2::WIF1 Fusion. 原发性卵巢涎腺多形性腺瘤：HMGA2::WIF1融合1例报告。

IF 1.7 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-05-01 DOI: 10.1097/PGP.0000000000001186

Holly Beckett, Roger Hunt, W Glenn McCluggage

引用次数: 0

Fumarate Hydratase-deficient Uterine Smooth Muscle Tumors: A 6-Year Prospective Analysis of Morphology-based Screening and Patient Outcomes. 富马酸水合酶缺乏的子宫平滑肌肿瘤：基于形态学的筛查和患者结果的6年前瞻性分析。

IF 1.7 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-05-01 Epub Date: 2025-09-19 DOI: 10.1097/PGP.0000000000001134

Tong Sun, Na Niu, Claire Healy, Heba Abdelal, Minhua Wang, Pei Hui, Natalia Buza

{"title":"Fumarate Hydratase-deficient Uterine Smooth Muscle Tumors: A 6-Year Prospective Analysis of Morphology-based Screening and Patient Outcomes.","authors":"Tong Sun, Na Niu, Claire Healy, Heba Abdelal, Minhua Wang, Pei Hui, Natalia Buza","doi":"10.1097/PGP.0000000000001134","DOIUrl":"10.1097/PGP.0000000000001134","url":null,"abstract":"Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal dominant disorder caused by germline fumarate hydratase ( FH ) pathogenic variants (PVs), characterized by cutaneous leiomyomas, early-onset uterine leiomyomas, and aggressive papillary renal cell carcinoma. While FH-deficient (FH-d) uterine leiomyomas have been proposed as a screening tool for identifying patients, prospective studies remain limited. Over a 6-yr study period, 1838 uterine smooth muscle tumors (uSMTs) were evaluated at our institution and prospectively screened for FH-d morphologic features. Seventy-one tumors (3.9%) showed features suggestive of FH-deficiency, prompting FH immunohistochemistry (IHC), which confirmed FH loss in 41 cases (58%). Among 41 patients with FH-d tumors, the median patient age was 43 yr, and most underwent hysterectomy for symptomatic leiomyomas, abnormal vaginal bleeding, or pelvic pain. Thirty-six patients (88%) had 2 or more leiomyomas, while 5 had a single tumor. The cohort included 39 FH-d leiomyomas, 1 uterine smooth muscle tumor of uncertain malignant potential (STUMP), and 1 FH-d adenomyoma, a previously unreported entity. Genetic counseling was offered to 36 of 41 (88%) patients. Fifteen patients declined testing or did not follow up with the genetic counseling appointment. Among 19 patients tested for FH and other hereditary cancer-related genes, 5 (26%) had FH germline pathogenic mutations, and 1 patient had a variant of unknown significance. Pelvic MRI in mutation carriers showed no abnormalities. In conclusion, FH-d uSMTs represented 2.2% of all uSMTs in our series. A combined morphologic and IHC screening approach can effectively identify patients at risk for HLRCC, facilitating genetic counseling and family screening.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"189-199"},"PeriodicalIF":1.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

High-grade Serous Neoplasm of Fallopian Tube Mimicking a Low-grade Lesion. 输卵管高级别浆液性肿瘤模拟低级别病变。

IF 1.7 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-05-01 Epub Date: 2025-09-26 DOI: 10.1097/PGP.0000000000001141

M Herman Chui

引用次数: 0