International Journal of Gynecological Pathology最新文献

POLD1 and Endometrial Cancer: Molecular Mechanisms, Genomic Pathology, and Emerging Therapeutics. POLD1与子宫内膜癌：分子机制、基因组病理学和新兴疗法。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-09-02 DOI: 10.1097/PGP.0000000000001211

Anas Houlal, Mousa Mobarki, Shaqraa Musawi, Michel Péoc'h, Georgia Karpathiou

{"title":"POLD1 and Endometrial Cancer: Molecular Mechanisms, Genomic Pathology, and Emerging Therapeutics.","authors":"Anas Houlal, Mousa Mobarki, Shaqraa Musawi, Michel Péoc'h, Georgia Karpathiou","doi":"10.1097/PGP.0000000000001211","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001211","url":null,"abstract":"Endometrial cancer (EC) is a major gynecologic malignancy whose classification and treatment paradigms are evolving because of molecular profiling. Mutations in DNA polymerases, particularly in DNA polymerase epsilon (POLE) and DNA polymerase delta 1 (POLD1), have become central to a subset of ultramutated ECs with crucial clinical and prognostic effects. The molecular mechanisms of POLD1 dysfunction in EC, its clinical manifestations, emerging diagnostic challenges, and therapeutic opportunities are explored in this review. Mutations in the exonuclease domain of POLD1 lead to ultramutation. Recent evidence suggests a unique recessive mechanism where an oncogenic mutation is coupled with the loss of the wild-type allele, abrogating the cell's ability to correct replication errors. Mutations in 4 conserved acidic residues (D316, E318, D402, and D515)-the DEDD motif-such as p. D402N result in the loss of proofreading capacity and confer a high tumor mutational burden. Small nuclear ribonucleoprotein polypeptide B overexpression in EC also modulates POLD1 splicing, contributing to its oncogenicity. POLD1-mutant ECs probably represent a subset of the ultramutated molecular category, paralleling POLE-mutated tumors, with implications for diagnostics, genetic counseling, and targeted therapy; their identification necessitates expanded genomic testing, mutational signature analysis, and awareness of their unique splicing and functional biology.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148880131","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 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-09-01 Epub 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":"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":"349-357"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","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

HPV Methylation as a Marker of Progression to High-Grade Squamous Intraepithelial Lesions (HSIL) in Patients With Negative Cytology/ASCUS and High-Risk HPV Positive. HPV甲基化作为细胞学阴性/ASCUS和高危HPV阳性患者向高级别鳞状上皮内病变（HSIL）进展的标志物

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-09-01 Epub Date: 2026-04-23 DOI: 10.1097/PGP.0000000000001178

Lourdes Salazar-Huayna, Úrsula Acosta, María Cristina Centeno Mediavilla, Marta Serra, Santiago Ramón Y Cajal, Javier Hernández-Losa, Carme Dinarès Fernández

{"title":"HPV Methylation as a Marker of Progression to High-Grade Squamous Intraepithelial Lesions (HSIL) in Patients With Negative Cytology/ASCUS and High-Risk HPV Positive.","authors":"Lourdes Salazar-Huayna, Úrsula Acosta, María Cristina Centeno Mediavilla, Marta Serra, Santiago Ramón Y Cajal, Javier Hernández-Losa, Carme Dinarès Fernández","doi":"10.1097/PGP.0000000000001178","DOIUrl":"10.1097/PGP.0000000000001178","url":null,"abstract":"According to the International Agency for Research on Cancer (IARC), cervical cancer (CC) ranks fourth among the most frequently diagnosed cancers worldwide. Women with negative or atypical cytology (ASCUS) and high-risk human papillomavirus (HR-HPV) infection represent a special group that establishes a management challenge. Recently, epigenetic mechanisms such as DNA methylation have gained importance as early diagnostic biomarkers for neoplastic lesions. Methylation of the FAM19A4 and miR124-2 genes has emerged as a potential biomarker for improved risk stratification in this population. This is a retrospective case-control study; we included women aged 25 to 70 yr with HR-HPV positivity and negative cytology or ASCUS. FAM19A4 and miR124-2 methylation were analyzed using the Qiasure methylation test. Cases (n=25) were defined as patients progressing to histologically confirmed high-grade squamous intraepithelial lesion (HSIL) within 1 to 3 yr. Controls (n=66) had no progression. Associations between methylation status, HPV genotype, and lesion progression were assessed. FAM19A4 and/or miR124-2 methylation were observed in 44% of cases and 37.9% of controls ( P =0.71). Methylation of miR124-2 alone showed a non-significant progress toward association with progression ( P =0.07). Infection with HPV16/18 ( P =0.014) and multiple HPV genotype infections ( P =0.018) were significantly associated with progression to HSIL. Methylation of FAM19A4 and miR124-2 did not significantly predict short-term progression to HSIL in this cohort. However, HPV genotype, particularly HPV16/18 infection, remains a strong predictor. Further studies are necessary to clarify the prognostic value of methylation testing in HPV-positive women with low-grade or negative cytology.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"377-382"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771048","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

Vulvar Squamous Cell Carcinoma: Scientific Progress and Impacts to Pathology Practice. 外阴鳞状细胞癌：科学进展及其对病理实践的影响。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-09-01 Epub Date: 2026-05-22 DOI: 10.1097/PGP.0000000000001188

Lynn Hoang, Somayah Alsolami, Blake Gilks, Jessica N McAlpine, Amy Jamieson

{"title":"Vulvar Squamous Cell Carcinoma: Scientific Progress and Impacts to Pathology Practice.","authors":"Lynn Hoang, Somayah Alsolami, Blake Gilks, Jessica N McAlpine, Amy Jamieson","doi":"10.1097/PGP.0000000000001188","DOIUrl":"10.1097/PGP.0000000000001188","url":null,"abstract":"Despite vulvar cancer's rarity, meaningful advances have been made to improve the clinical care of affected patients-particularly with respect to vulvar squamous cell carcinoma (VSCC). These advances are reflected in changes to tumor classification, surgical strategies, early detection of precursors, and targeted therapeutic exploration. Refinements in histopathologic and molecular classification have enhanced diagnostic precision, enabling more accurate prognostication and facilitating personalized therapeutic decision-making, particularly tailored surgical strategies that can be explored through clinical trials-to improve patient outcomes while reducing patient morbidity. Increased awareness of VSCC precursors have also opened avenues for earlier intervention. This review highlights the key changes in the evolution of VSCC care, with particular emphasis on the expanding responsibilities of pathologists in tumor subtyping [by human papillomavirus (HPV) and p53 status], biomarker-based prognostication, margin evaluation, recognition of precursors and alignment of precursor terminology (particularly HPV independent p53 wild-type lesions). By highlighting both progress and limitations, this review aims to inform future strategies that will further optimize patient outcomes and advance the standard of care in VSCC.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"383-394"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13460334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148015465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cervico-vaginal Amoebiasis Masquerading as Malignancy-A Case Series Highlighting Rare Clinical Presentation of a Common Parasitic Infection. 伪装成恶性的宫颈-阴道阿米巴病——一个罕见的常见寄生虫感染临床表现的病例系列。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-09-01 Epub Date: 2026-01-14 DOI: 10.1097/PGP.0000000000001155

Neha Bakshi, Rahul D Modi, Mala Srivastava, Deepika Gupta, Shashi Dhawan, Seema Rao, Sonia Badwal

{"title":"Cervico-vaginal Amoebiasis Masquerading as Malignancy-A Case Series Highlighting Rare Clinical Presentation of a Common Parasitic Infection.","authors":"Neha Bakshi, Rahul D Modi, Mala Srivastava, Deepika Gupta, Shashi Dhawan, Seema Rao, Sonia Badwal","doi":"10.1097/PGP.0000000000001155","DOIUrl":"10.1097/PGP.0000000000001155","url":null,"abstract":"Amoebiasis is a common parasitic infection with a global disease burden, and usually presents with intestinal disease. Cervical and vulvovaginal amoebiasis are rare extraintestinal manifestations that closely mimic malignancy, owing to overlapping symptoms like vaginal bleeding or discharge and ulcerated necrotic mass-like lesions on clinical examination. A high index of suspicion, particularly in women from endemic regions, combined with timely pathologic examination, is crucial for accurate diagnosis and appropriate management. Definitive diagnosis relies on cytologic or histopathological examination of cervical tissue demonstrating trophozoites of Entamoeba histolytica , often identifiable by their characteristic ingestion of erythrocytes. Herein, we report an account of three female patients with lower genital amoebiasis masquerading clinico-radiologically as malignancy. Prompt treatment with metronidazole resulted in complete clinical resolution in all 3 patients, highlighting the importance of considering amoebiasis in the differential diagnosis of atypical cervical or vulvovaginal lesions.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"418-421"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147289910","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

Collision Tumor of the Uterine Corpus: Primary EBV-positive Diffuse Large B-Cell Lymphoma and Endometrioid Carcinoma. 子宫体碰撞瘤：原发性ebv阳性弥漫性大b细胞淋巴瘤和子宫内膜样癌。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-09-01 Epub Date: 2025-10-27 DOI: 10.1097/PGP.0000000000001146

Qiuyue Chen, Zongchen Wei, Fang Tang

{"title":"Collision Tumor of the Uterine Corpus: Primary EBV-positive Diffuse Large B-Cell Lymphoma and Endometrioid Carcinoma.","authors":"Qiuyue Chen, Zongchen Wei, Fang Tang","doi":"10.1097/PGP.0000000000001146","DOIUrl":"10.1097/PGP.0000000000001146","url":null,"abstract":"Epstein-Barr virus (EBV)-positive diffuse large B-cell lymphoma (DLBCL) of the uterus is an infrequent entity. Moreover, the coexistence of EBV-positive DLBCL and endometrioid carcinoma in the form of a collision tumor has not been reported in the literature to date. This report details the clinical, histologic, immunohistochemical, and molecular characteristics of a collision tumor consisting of EBV-positive DLBCL and endometrioid carcinoma of the uterine corpus. The patient was a 63-yr-old postmenopausal woman who presented with vaginal bleeding. Ultrasonography detected a 2.3×1.0 cm mildly hyperechoic mass within the uterine corpus. Histologically, the tumor consisted of sheets of medium- to large-sized lymphoid cells intermixed with low-grade endometrioid carcinoma. Immunohistochemically, the neoplastic lymphoid cells exhibited strong CD20 expression, and EBV-encoded small RNA in situ hybridization signals were detected in most of these cells. The endometrioid carcinoma cells strongly expressed estrogen receptor and cytokeratin 18. Molecular analysis revealed clonal rearrangement of the B-cell receptor gene. To the best of our knowledge, no prior cases of collision tumors comprising EBV-positive DLBCL and endometrioid carcinoma have been reported. It is essential to differentiate such collision tumors from endometrioid carcinoma with florid-reactive lymphocytic infiltration and dedifferentiated carcinoma of the uterine corpus. A meticulous analysis of patient's clinical features and of the lesion's histologic, immunophenotypic, and genetic characteristics is necessary for an accurate diagnosis.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"412-417"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145488446","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

Clinicopathologic and Immunologic Features of Vulvar Lichen Sclerosus and Related Neoplasia: A Comparative Study of Precursor Lesions and VSCC in Premenopausal and Postmenopausal Patients. 外阴硬化苔藓及相关肿瘤的临床病理和免疫学特征：绝经前和绝经后患者前体病变和VSCC的比较研究。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-09-01 Epub Date: 2026-05-27 DOI: 10.1097/PGP.0000000000001189

Elayna M Shanker, Alberto Moscona, Luis Chiriboga, Leonardo Gonzales, Elizabeth Eden, Esther Adler

{"title":"Clinicopathologic and Immunologic Features of Vulvar Lichen Sclerosus and Related Neoplasia: A Comparative Study of Precursor Lesions and VSCC in Premenopausal and Postmenopausal Patients.","authors":"Elayna M Shanker, Alberto Moscona, Luis Chiriboga, Leonardo Gonzales, Elizabeth Eden, Esther Adler","doi":"10.1097/PGP.0000000000001189","DOIUrl":"10.1097/PGP.0000000000001189","url":null,"abstract":"Lichen sclerosus (LS) is a chronic inflammatory condition of the vulva. Although LS is thought to arise from autoimmune mechanisms, it is unclear whether disease drivers differ by menopausal status-an important distinction given its potential progression to differentiated vulvar intraepithelial neoplasia (dVIN) and vulvar squamous cell carcinoma (VSCC). We performed a retrospective review of 182 biopsy-proven LS cases (2020-2025), stratified by menopause status. In addition, we examined 27 VSCC cases for PD-L1 staining to assess immune modulation and potential therapeutic relevance. Premenopausal patients were diagnosed at a much younger age (37.8 vs. 67.5 yr, P <0.001) and experienced longer delays to diagnosis (3.9 vs. 1.5 yr, P <0.001). Their biopsies were less often reported with definitive LS terminology (40% vs. 75%, P <0.001), suggesting under-recognition in younger women. Comorbidities were more common in this group, especially autoimmune disease (46.7% vs. 10.9%, P <0.001), whereas postmenopausal patients more frequently had atrophic vaginitis (15.9%, P =0.02). Progression to dVIN or VSCC occurred more often in postmenopause (13.1% vs. 8.9%), though this was not statistically significant. PD-L1 expression was frequent in VSCC and precursor lesions (HSIL: 80%; dVIN: 81%) and less common in LS (50%), though these differences were not statistically significant. Expression patterns varied by lesion type, suggesting potential differences in the local immune microenvironment. Taken together, these findings support differences in clinical presentation and immune features of LS by menopausal status, warranting further investigation in larger cohorts.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"333-339"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148042305","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

p53 Normal and p53 Abnormal Clear Cell Ovarian Carcinomas: Clinical Characteristics and Biomarker Profiles. p53正常和p53异常透明细胞卵巢癌：临床特征和生物标志物概况。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-09-01 Epub Date: 2026-05-27 DOI: 10.1097/PGP.0000000000001191

Piret Hellberg, Annukka Pasanen, Jonna Similä-Maarala, Ralf Bützow, Heini Lassus

{"title":"p53 Normal and p53 Abnormal Clear Cell Ovarian Carcinomas: Clinical Characteristics and Biomarker Profiles.","authors":"Piret Hellberg, Annukka Pasanen, Jonna Similä-Maarala, Ralf Bützow, Heini Lassus","doi":"10.1097/PGP.0000000000001191","DOIUrl":"10.1097/PGP.0000000000001191","url":null,"abstract":"A new concept of molecular classification for clear cell ovarian carcinoma (CCOC) has been proposed: TP53 wild-type and TP53 mutated. Our aim was to evaluate this classification at the immunohistochemical level in p53 normal and abnormal subgroups. Clinicopathologic factors and 12 immunohistochemical biomarkers (p53, PR, ER, β-catenin, vimentin, ARID1A, HNF1-β, E-cadherin, c-erb-B2, MIB-1, p16, and L1CAM) and patient prognosis were analyzed in 132 CCOCs. The p53 abnormal group presented with significantly worse disease-specific overall survival (DSS) and disease-free survival (DFS) than the p53 normal group, which was largely due to higher stage and a more frequent presence of residual tumor in the p53 abnormal group. Furthermore, higher stage and presence of residual tumor were markers of poor outcome within both p53 subgroups. Interestingly, the presence of ascites was related to shorter DSS only in p53 normal cases. The p53 normal group was also characterized by a higher frequency of ARID1A loss and HNF1-β positivity, whereas p16 overexpression and ER positivity were more common in p53 abnormal cases. Interestingly, ARID1A loss correlated with poor DSS in the p53 abnormal group. In the p53 normal tumors, ER positivity was associated with better DSS and p16 positivity with worse DFS. L1CAM positivity was associated with residual tumor only in the p53 normal group. Our findings support the existence of 2 distinct molecular subgroups of CCOC, p53 normal and p53 abnormal, with diverse characteristics and patient outcomes. Clinical and molecular differences were discovered within these subgroups.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"340-348"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13460317/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148042231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

NTRK -rearranged Spindle Cell Neoplasm of the Uterus: An Emerging Entity. 子宫ntrk重排梭形细胞肿瘤：一个新兴的实体。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-09-01 Epub Date: 2025-10-06 DOI: 10.1097/PGP.0000000000001143

Haley Corbin, Shikha Malhotra, Kanika Goel, John M Skaugen, Rohit Bhargava

引用次数: 0

Epithelioid Trophoblastic Tumor Presenting as a Large Cystic Mass: Diagnostic Clue From Foreign DNA Sequences Detected by Comprehensive Genomic Profiling. 上皮样滋养细胞肿瘤表现为大囊性肿块：综合基因组图谱检测外源DNA序列的诊断线索。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-09-01 Epub Date: 2026-01-14 DOI: 10.1097/PGP.0000000000001156

Yui Kojima, Akiko Tonooka, Tomohiro Chiba, Sanshiro Okamoto, Shogo Nishino, Akiko Abe, Satomi Kitai, Murasaki Aman, Yuichiro Sato, Naomi Hayashi, Ippei Fukada, Shunji Takahashi, Kengo Takeuchi

{"title":"Epithelioid Trophoblastic Tumor Presenting as a Large Cystic Mass: Diagnostic Clue From Foreign DNA Sequences Detected by Comprehensive Genomic Profiling.","authors":"Yui Kojima, Akiko Tonooka, Tomohiro Chiba, Sanshiro Okamoto, Shogo Nishino, Akiko Abe, Satomi Kitai, Murasaki Aman, Yuichiro Sato, Naomi Hayashi, Ippei Fukada, Shunji Takahashi, Kengo Takeuchi","doi":"10.1097/PGP.0000000000001156","DOIUrl":"10.1097/PGP.0000000000001156","url":null,"abstract":"Epithelioid trophoblastic tumor (ETT) is an extremely rare gestational trophoblastic neoplasm typically presenting as solid nodular lesions. We report an unusual case of ETT in a postmenopausal woman in her 50s that occurred 20 years after her last pregnancy. The tumor presented as a 19-cm multilocular cystic mass protruding from the cervix and was suspected to be infected. Initial histopathological examination revealed a solid proliferation of epithelioid to spindle cells expressing cytokeratins and p40, leading to a provisional diagnosis of sarcomatoid carcinoma. Comprehensive genomic profiling (CGP) was performed because of uncertainty regarding the primary site. Unexpectedly, CGP revealed DNA sequences of foreign origin, which prompted consideration of gestational trophoblastic disease rather than contamination. Additional immunohistochemical staining demonstrated positivity for HSD3B1, a specific marker of trophoblastic differentiation, confirming a diagnosis of ETT. Complete surgical resection was achieved, with no recurrence during 18 months of follow-up. This case has 2 important teaching points. First, ETT can present as a large cystic lesion rather than as a classical solid mass, likely as a result of extensive necrosis and superimposed infection. Second, detection of foreign DNA sequences during genomic profiling of a uterine tumor should alert pathologists to the possibility of gestational trophoblastic disease, given that these tumors are of fetal origin with a distinct genetic profile differing from that of maternal tissue. Recognition of these features is crucial for accurate diagnosis and appropriate management of this rare neoplasm.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"405-411"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147289898","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