International Journal of Gynecological Pathology最新文献

Myxoid Solitary Fibrous Tumor of the Vulva: A Diagnostic Pitfall. 外阴粘液样孤立性纤维瘤：一个诊断缺陷。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-11-01 Epub Date: 2026-02-18 DOI: 10.1097/PGP.0000000000001171

Ahmet Erbağci, Abdullah Aydin, Filiz Özen, Diyar Sayit, Gözde Kir

引用次数: 0

Molecular and Immunohistochemical Characteristics of Primary Vaginal Leiomyosarcoma: Case Report and Review of the Literature. 原发阴道平滑肌肉瘤的分子和免疫组织化学特征：病例报告和文献复习。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-11-01 Epub Date: 2025-11-26 DOI: 10.1097/PGP.0000000000001149

Chantal Durgana, James Grenert, Cynthia Gasper

{"title":"Molecular and Immunohistochemical Characteristics of Primary Vaginal Leiomyosarcoma: Case Report and Review of the Literature.","authors":"Chantal Durgana, James Grenert, Cynthia Gasper","doi":"10.1097/PGP.0000000000001149","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001149","url":null,"abstract":"Primary vaginal leiomyosarcoma is a rare malignancy characterized by similar histologic features as uterine leiomyosarcomas. Previous studies of uterine leiomyosarcomas have shown specific molecular alterations, including frequent alterations in TP53, RB1, ATRX, PTEN, MED12, CDKN2A, and MDM2. Similar alterations have been found in primary vaginal leiomyosarcomas as well as an alternative tumorigenic pathway associated with HPV. Herein, we describe a primary vaginal leiomyosarcoma in a 46-yr-old patient. The tumor was located in the vaginal wall without involvement of the uterus or cervix. Morphologically, it was composed of atypical, spindled cells, with a mitotic rate of 25 mitotic figures per 10 high-power fields and tumor type necrosis. Immunohistochemistry showed positivity for h-caldesmon, SMA, desmin, and ER, along with p53 null pattern expression and loss of ATRX and Rb. Next-generation sequencing analysis revealed mutations in ATRX and PTEN, along with homozygous deletions of RB1, and deep deletions in TP53 and NCOR1 tumor suppressor genes. High-risk human papillomavirus (HR-HPV) E6/E7 mRNA in situ hybridization was performed and showed no staining.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":"45 6","pages":"499-503"},"PeriodicalIF":2.1,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149136333","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

Mammary-type Metaplastic Carcinoma Arising From Vulvar Hidradenoma Papilliferum: A Case Report. 外阴乳头状汗腺瘤引起乳腺型化生癌1例。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-11-01 Epub Date: 2026-02-02 DOI: 10.1097/PGP.0000000000001157

Chandni Desai, Peng Wang, Melissa Tjota, Ricardo R Lastra

{"title":"Mammary-type Metaplastic Carcinoma Arising From Vulvar Hidradenoma Papilliferum: A Case Report.","authors":"Chandni Desai, Peng Wang, Melissa Tjota, Ricardo R Lastra","doi":"10.1097/PGP.0000000000001157","DOIUrl":"10.1097/PGP.0000000000001157","url":null,"abstract":"Hidradenoma papilliferum is a benign neoplasm arising in the vulvovaginal region. These lesions are thought to originate from anogenital mammary-like glands and share morphologic and immunohistochemical features with breast tissue. Though rare, malignant transformation of hidradenoma papilliferum into mammary-type carcinoma, typically mammary-type ductal and mammary-type lobular carcinoma, has been documented. However, mammary-type metaplastic carcinoma arising from hidradenoma papilliferum is exceedingly rare. Herein, we describe a case of this entity in a patient presenting with a labial mass. Histologic examination revealed a papillary proliferation consistent with hidradenoma papilliferum, with focal ductal carcinoma in situ (DCIS). Adjacent to this was a biphasic malignant neoplasm composed of a high-grade carcinomatous component and an infiltrating sarcomatoid component with pleomorphic tumor cells. Immunohistochemically, the DCIS and carcinomatous components were positive for CAM5.2, CK7, claudin-4, and GATA-3, while the malignant sarcomatoid component was positive for p63 and GATA-3. Both invasive components demonstrated aberrant cytoplasmic p53 expression. Molecular analysis identified pathogenic mutations in TP53 , PIK3CA , APC , and NF1 . The aforementioned findings mirror those found in metaplastic carcinoma of the breast, and a diagnosis of biphasic tumor analogous to mammary-type metaplastic carcinoma, likely arising from hidradenoma papilliferum, was rendered. This case captures a continuum of disease progression from hidradenoma papilliferum to mammary-type metaplastic carcinoma and not only strengthens the association of mammary-type malignancies of the vulvovaginal region originating from breast-like structures native to this location, but expands on the spectrum of morphologic, immunohistochemical, and molecular features of these lesions.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"490-494"},"PeriodicalIF":2.1,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147289849","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

Untangling the Labyrinth: An Integrated View of the Mesothelial and Epithelial Linings of the Female Adnexa Based on Newly Characterized Anatomic and Histologic Junctions. 解开迷宫：基于新特征的解剖学和组织学连接的女性附件间皮和上皮内层的综合观点。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-11-01 Epub Date: 2026-05-25 DOI: 10.1097/PGP.0000000000001167

Jeffrey D Seidman, Russell Vang

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 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-11-01 Epub 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":"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":"447-453"},"PeriodicalIF":2.1,"publicationDate":"2026-11-01","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

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 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-11-01 Epub 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":"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":"484-489"},"PeriodicalIF":2.1,"publicationDate":"2026-11-01","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

Folate Receptor Alpha (FRα/FOLR1) Immunohistochemical Expression Across Molecularly Classified Endometrial Carcinomas. 叶酸受体α (FRα/FOLR1)在分子分类子宫内膜癌中的免疫组织化学表达

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-11-01 Epub Date: 2026-08-07 DOI: 10.1097/PGP.0000000000001208

Diane Libert, Brooke Liang, Sabrina Zdravkovic, Austin McHenry, Phoebe Hammer, Elizabeth A Kidd, Brooke E Howitt

{"title":"Folate Receptor Alpha (FRα/FOLR1) Immunohistochemical Expression Across Molecularly Classified Endometrial Carcinomas.","authors":"Diane Libert, Brooke Liang, Sabrina Zdravkovic, Austin McHenry, Phoebe Hammer, Elizabeth A Kidd, Brooke E Howitt","doi":"10.1097/PGP.0000000000001208","DOIUrl":"10.1097/PGP.0000000000001208","url":null,"abstract":"The approval of Mirvetuximab soravtansine, a folate receptor alpha (FOLR1)-targeting antibody-drug conjugate, for platinum-resistant ovarian cancer, has prompted interest in FOLR1 as a target in endometrial carcinoma (EC). Characterization of FOLR1 expression across EC histotypes, TCGA molecular subtypes, and clinically relevant biomarkers using the FDA-approved companion diagnostic assay has not been performed. FOLR1 immunohistochemistry was performed on tissue microarrays from 169 molecularly classified ECs using the VENTANA FOLR1-2.1 assay and scored by proportion score PS2 and PS1 criteria at the ovarian cancer eligibility cutoff (PS2 ≥75) as well as exploratory thresholds. Associations with histotype, molecular subtype, biomarker (ER, PR, HER2) status, survival outcomes, intratumoral heterogeneity, and matched primary-recurrence expression were assessed. Only 3% (5/169) of ECs met the PS2 ≥75 threshold; all 5 were p53-abnormal (p53abn). In all, 9% (15/169) showed PS2 ≥25, predominantly in p53abn and no specific molecular profile (NSMP) subgroups. Uterine serous carcinoma had the highest expression; FOLR1 was absent in 3/3 clear cell carcinomas. Higher FOLR1 expression was associated with inferior survival, though this largely reflected molecular subtype and grade. FOLR1 was homogeneous across cores but variable between primary and recurrent tumors. FOLR1 testing in EC may be most relevant in p53abn and NSMP tumors and may not be useful in clear cell carcinomas. FOLR1 may have prognostic value in low-grade endometrioid and ER/PR-positive EC. Retesting at tumor recurrence is recommended. Given the frequency of lower-level FOLR1 expression, trials with treatment-response data are needed to test eligibility criteria below the current ovarian cancer threshold.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"423-436"},"PeriodicalIF":2.1,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148684437","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

Genetic Stability of Short Tandem Repeat (STR) Loci in Human Term Placentas. 人类足月胎盘短串联重复序列（STR）位点的遗传稳定性。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-11-01 Epub Date: 2026-06-25 DOI: 10.1097/PGP.0000000000001153

Na Niu, Natalia Buza, Pei Hui

{"title":"Genetic Stability of Short Tandem Repeat (STR) Loci in Human Term Placentas.","authors":"Na Niu, Natalia Buza, Pei Hui","doi":"10.1097/PGP.0000000000001153","DOIUrl":"10.1097/PGP.0000000000001153","url":null,"abstract":"Short tandem repeat (STR) genotyping is widely used in human identity testing and is the gold standard for diagnosing and classifying hydatidiform moles and gestational trophoblastic neoplasms. Although STR loci are known to be highly stable, recent whole-genome sequencing studies have revealed confined mosaicism and extensive genetic alterations in term placentas, raising concerns about the reliability of STR-based diagnostics in placental tissues. To assess the genetic stability of STR loci in human term placentas, we performed STR genotyping using a commercial 16-locus kit (PowerPlex 16) on 5 anatomically distinct regions from each of 10 term placentas. Chorionic villi and maternal decidua were microdissected and separately analyzed. All samples yielded adequate PCR amplification, with precise allele assignments at all loci. No evidence of allelic gain/loss, aneuploidy, or off-ladder alleles was observed. The STR profiles of chorionic villi were consistent across all sampled quadrants within each placenta and matched one maternal allele at each locus, confirming biparental inheritance and high allelic stability. Despite previously reported placental genomic mosaicism, our findings demonstrate that STR genotyping remains robust and reliable in term placentas. These data support continued use of STR analysis in the diagnosis of molar pregnancies and trophoblastic neoplasia without concern for placental-specific genetic instability.","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"462-467"},"PeriodicalIF":2.1,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148329164","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

PAX8-Negative HPV-Associated Endocervical Adenocarcinoma With a Micropapillary Component: A Diagnostic Pitfall Mimicking Metastatic Carcinoma. 带有微乳头状成分的pax8阴性hpv相关宫颈内膜腺癌：模拟转移癌的诊断缺陷

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-11-01 Epub Date: 2026-07-16 DOI: 10.1097/PGP.0000000000001207

Furkan Aknar, Sevil Albayrak, Dorukhan Gül, İlker Nihat Ökten, Gözde Kır

引用次数: 0

Isolated Vaginal Recurrence of Endometrioid Endometrial Carcinoma. 子宫内膜样癌阴道孤立性复发。

IF 2.1 4区医学

International Journal of Gynecological Pathology Pub Date : 2026-11-01 Epub Date: 2026-05-27 DOI: 10.1097/PGP.0000000000001195

Sara da Mata, Carlota Mora, Fernanda Silva, Susana Esteves, Inês Conde Vasco, Teresa Margarida Cunha, Delfim Doutel, Joana Ferreira, Ana Félix

{"title":"Isolated Vaginal Recurrence of Endometrioid Endometrial Carcinoma.","authors":"Sara da Mata, Carlota Mora, Fernanda Silva, Susana Esteves, Inês Conde Vasco, Teresa Margarida Cunha, Delfim Doutel, Joana Ferreira, Ana Félix","doi":"10.1097/PGP.0000000000001195","DOIUrl":"10.1097/PGP.0000000000001195","url":null,"abstract":"Endometrioid endometrial carcinoma (EEC) is the most common type of endometrial carcinoma. A small subset recurs exclusively in the vagina. Data on this group remain limited due to its low incidence and study heterogeneity, combining different histologies and recurrence sites. We describe 20 patients with isolated vaginal recurrence of EEC, focusing on tumor characteristics, treatment, time to recurrence, and outcomes. Vaginal recurrences occurred between 2015 and 2024. Patients with positive margins at primary surgery or persistent disease were excluded. Medical records and slides were reviewed. Median time to vaginal recurrence was 2 yr (range, <1->16 yr), with 85% occurring within 4 yr. Most recurrences were unifocal and at the vaginal apex, and all retained the primary tumor grade. High-grade EEC recurred 19 months earlier than low-grade ( P =0.0227). Time to vaginal recurrence was not associated with other tumor features or postsurgical management. Complete remission was achieved in 65% of evaluable patients; among complete responders, 82% received radiotherapy (RT) alone. Second vaginal-only recurrences were uncommon (10%), and half were successfully salvaged. Five-year overall survival (OS) after primary tumor diagnosis was 89% (95% CI: 75%-100%) and after vaginal recurrence was 84% (95% CI: 66%-100%). Median follow-up after recurrence was 3.7 yr (95% CI: 1.0-5.7 yr). OS was associated with FIGO stage ( P <0.0001) and lymphovascular invasion ( P =0.0081). Five-year postrecurrence disease-free survival (PR-DFS) was 68% and was shorter in high-grade tumors ( P =0.043) and in patients receiving adjuvant RT ( P =0.013).","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"454-461"},"PeriodicalIF":2.1,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148042312","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