International Journal of Gynecological Pathology最新文献

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Antibody-drug Conjugate Biomarker Expression in Gestational Trophoblastic Disease: Folate Receptor Alpha, Nectin-4, Trop-2, and Tissue Factor. 抗体-药物偶联生物标志物在妊娠滋养细胞疾病中的表达:叶酸受体α、连接素-4、Trop-2和组织因子。
IF 1.6 4区 医学
International Journal of Gynecological Pathology Pub Date : 2025-07-10 DOI: 10.1097/PGP.0000000000001119
Lawrence Hsu Lin, Kathleen T Hasselblatt, Carlos Parra-Herran, Neil S Horowitz, Ross S Berkowitz, Bradley J Quade, Kevin M Elias
{"title":"Antibody-drug Conjugate Biomarker Expression in Gestational Trophoblastic Disease: Folate Receptor Alpha, Nectin-4, Trop-2, and Tissue Factor.","authors":"Lawrence Hsu Lin, Kathleen T Hasselblatt, Carlos Parra-Herran, Neil S Horowitz, Ross S Berkowitz, Bradley J Quade, Kevin M Elias","doi":"10.1097/PGP.0000000000001119","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001119","url":null,"abstract":"<p><p>Antibody-drug conjugates (ADC) are emerging therapies with promising results in the treatment of solid tumors. In this study, we aimed to evaluate biomarker expression of ADCs, including folate receptor alpha (FOLR1), Nectin-4, trophoblast cell surface antigen 2 (Trop-2), and tissue factor (TF) in a diverse cohort of gestational trophoblastic disease. Immunohistochemistry for FOLR1, Nectin-4, Trop-2, and TF was evaluated in tissue microarray of 18 complete hydatidiform moles (CHM) and whole tissue sections of 62 gestational trophoblastic neoplasia (GTN) by 2 gynecologic pathologists. Western blotting for FOLR1, Nectin-4, and Trop-2 was performed in JEG-3 and JAR choriocarcinoma cell lines, 2 CHM and 3 GTN clinical samples. Results: The overall immunohistochemical positive rate in GTN was 11% for FOLR1, 59% for Nectin-4, 38% for Trop-2, and 26% for TF. Choriocarcinomas showed 27% positivity for FOLR1, 75% for Nectin-4, 40% for Trop-2, and 25% for TF. Epithelioid trophoblastic tumors (ETT) were positive for Nectin-4 in 58%, for Trop-2 in 79%, and for TF in 67% of cases. Placental site trophoblastic tumors were positive only for Nectin-4 (23% of cases). In CHM, only Nectin-4 revealed a higher degree of expression and limited staining for the other markers. Western blotting showed FOLR1 expression in CHM, JEG-3, and JAR; Nectin-4 in CHM and PSTT; and Trop-2 in CHM, JEG-3, and choriocarcinoma. Conclusion: A subset of GTN shows expression for FOLR1, Nectin-4, Trop-2, and TF, particularly choriocarcinoma and ETT. These results suggest that patients with GTN could potentially benefit from ADC treatment.</p>","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144612149","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
EML4::NTRK3 Rearranged Ovarian Neoplasm: Case Report and Literature Review. EML4::NTRK3重排卵巢肿瘤病例报告及文献复习。
IF 1.6 4区 医学
International Journal of Gynecological Pathology Pub Date : 2025-07-07 DOI: 10.1097/PGP.0000000000001122
Steven H Smith, Emily Hinchcliff, Christopher Felicelli
{"title":"EML4::NTRK3 Rearranged Ovarian Neoplasm: Case Report and Literature Review.","authors":"Steven H Smith, Emily Hinchcliff, Christopher Felicelli","doi":"10.1097/PGP.0000000000001122","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001122","url":null,"abstract":"<p><p>This case report details the first known instance of an EML4::NTRK3 rearranged neoplasm in the ovary. The patient, a 32-yr-old woman, presented with prolonged abnormal uterine bleeding and was found to have a 5.0 cm right adnexal mass. Following surgical excision, histologic examination revealed neoplastic epithelioid to spindled cells with moderate cytologic atypia in a variably myxoid background, while immunohistochemistry confirmed positivity for inhibin, calretinin, and smooth muscle actin (SMA). Molecular analysis identified an EML4::NTRK3 fusion, establishing the diagnosis. This rare finding broadens the spectrum of NTRK fusion-related gynecologic tumors, typically observed in the uterus. Through this report and a literature review, we aim to enhance diagnostic recognition and underscore potential therapeutic strategies for NTRK fusion-positive ovarian tumors.</p>","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144600348","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
Cellular Angiofibroma With Sarcomatous Transformation: Case Report With Molecular Characterization and Review of the Literature. 细胞血管纤维瘤伴肉瘤转化:1例分子表征及文献复习。
IF 1.6 4区 医学
International Journal of Gynecological Pathology Pub Date : 2025-07-07 DOI: 10.1097/PGP.0000000000001123
Haley Corbin, Esther Elishaev, Ivy John, Catherine K Gestrich, John M Skaugen, Rohit Bhargava
{"title":"Cellular Angiofibroma With Sarcomatous Transformation: Case Report With Molecular Characterization and Review of the Literature.","authors":"Haley Corbin, Esther Elishaev, Ivy John, Catherine K Gestrich, John M Skaugen, Rohit Bhargava","doi":"10.1097/PGP.0000000000001123","DOIUrl":"https://doi.org/10.1097/PGP.0000000000001123","url":null,"abstract":"<p><p>Cellular angiofibroma is a benign mesenchymal neoplasm which usually occurs in the vulvovaginal or inguinoscrotal areas. Although benign, cellular angiofibroma may rarely undergo sarcomatous transformation. We report a case of vulvar cellular angiofibroma with sarcomatous transformation in a 62-yr-old woman and a literature review of previously reported cases. By immunohistochemistry, our case was positive for vimentin and ER, mostly negative for smooth muscle markers, and showed patchy reactivity for CD10, Pan-TRK, and Rb1. The bland component was negative for p16 with wild-type p53 expression, while the sarcomatous area showed strong, diffuse p16 staining with p53 overexpression. Targeted DNA and RNA next-generation sequencing of the bland area showed chromosome 9p/9q copy number loss, while the sarcomatous area showed TP53 (p.G154V) mutation (90% allele frequency) and copy number loss of chromosome 17p (including TP53). Whole transcriptome sequencing was negative for tumor-associated gene fusions. As the lesion was completely encapsulated and excised, and with limited published data indicating an uneventful clinical course, the decision was made to follow the patient with no further therapeutic intervention. Four months following excision, the patient has no signs or symptoms of local recurrence.</p>","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144600345","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
Leiomyosarcomas of the Visceral Adnexal and Uterine Ligaments and Adnexal Connective Tissue: Immunohistochemical, Molecular Genetic, and MDM2 Fluorescence In Situ Hybridization Analysis. 内脏附件和子宫韧带及附件结缔组织的子宫肌瘤:免疫组化、分子遗传和 MDM2 荧光原位杂交分析。
IF 1.6 4区 医学
International Journal of Gynecological Pathology Pub Date : 2025-07-01 Epub Date: 2024-07-23 DOI: 10.1097/PGP.0000000000001064
Nooshin K Dashti, Amy A Swanson, Vatsal Patel, Deyin Xing, Michael Feely, Gary L Keeney, Sounak Gupta, J Kenneth Schoolmeester
{"title":"Leiomyosarcomas of the Visceral Adnexal and Uterine Ligaments and Adnexal Connective Tissue: Immunohistochemical, Molecular Genetic, and MDM2 Fluorescence In Situ Hybridization Analysis.","authors":"Nooshin K Dashti, Amy A Swanson, Vatsal Patel, Deyin Xing, Michael Feely, Gary L Keeney, Sounak Gupta, J Kenneth Schoolmeester","doi":"10.1097/PGP.0000000000001064","DOIUrl":"10.1097/PGP.0000000000001064","url":null,"abstract":"","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"355-357"},"PeriodicalIF":1.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125672","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
TP53 Mutations and PD-L1 Amplification in Vulvar Adenocarcinoma of the Intestinal Type: Insights From Whole Exome Sequencing of 2 Cases. 肠型外阴腺癌TP53突变和PD-L1扩增:来自2例全外显子组测序的启示
IF 1.6 4区 医学
International Journal of Gynecological Pathology Pub Date : 2025-07-01 Epub Date: 2025-01-09 DOI: 10.1097/PGP.0000000000001093
Erisa Fujii, Mayumi Kobayashi Kato, Hanako Ono, Maiko Yamaguchi, Daiki Higuchi, Takafumi Koyama, Masaaki Komatsu, Ryuji Hamamoto, Mitsuya Ishikawa, Tomoyasu Kato, Takashi Kohno, Kouya Shiraishi, Hiroshi Yoshida
{"title":"TP53 Mutations and PD-L1 Amplification in Vulvar Adenocarcinoma of the Intestinal Type: Insights From Whole Exome Sequencing of 2 Cases.","authors":"Erisa Fujii, Mayumi Kobayashi Kato, Hanako Ono, Maiko Yamaguchi, Daiki Higuchi, Takafumi Koyama, Masaaki Komatsu, Ryuji Hamamoto, Mitsuya Ishikawa, Tomoyasu Kato, Takashi Kohno, Kouya Shiraishi, Hiroshi Yoshida","doi":"10.1097/PGP.0000000000001093","DOIUrl":"10.1097/PGP.0000000000001093","url":null,"abstract":"<p><p>Vulvar adenocarcinoma of the intestinal type (VAIt) is a rare subtype of primary vulvar carcinoma, with ∼30 cases documented in the English literature. This study presents 2 new cases of HPV-independent VAIt with lymph node metastasis and discusses their clinical presentation, histopathologic features, and whole exome sequencing (WES) analysis. Both cases exhibited histologic features consistent with VAIt, including tubular, papillary, and mucinous carcinoma components. Immunohistochemical analysis showed p16 patchy staining, CDX2, CK20, and SATB2 positivity, while being negative for ER, PAX8, and CK7. WES revealed pathogenic TP53 mutations in both cases, accompanied by distinct additional mutations ( GRIN2A and KDM6A in Case #1; CHD4 in Case #2). Common copy number alterations (CNAs) included TP53 loss of heterozygosity and CD274/PD-L1 amplification. However, other CNAs varied between the cases. Immunohistochemistry for p53 suggests the presence of both wild-type and mutant subclones, indicating that TP53 abnormalities may be acquired during tumor progression. Both tumors showed mutational signatures SBS1 and SBS5, associated with aging and DNA damage. Our findings deepen the understanding of the genetic events involved in the tumorigenesis of HPV-independent VAIt. Given the TP53 abnormalities and CD274/PD-L1 amplification, emerging p53-based therapies and immune checkpoint inhibitors may represent potential treatment targets. While these findings contribute to the understanding of VAIt tumorigenesis, further research is required to validate these observations in a larger cohort.</p>","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"358-363"},"PeriodicalIF":1.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046475","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
Role of Immunohistochemical Analysis of p16 and p53 in Vulvar Carcinoma. 外阴癌中 p16 和 p53 免疫组化分析的作用
IF 1.6 4区 医学
International Journal of Gynecological Pathology Pub Date : 2025-07-01 Epub Date: 2024-10-31 DOI: 10.1097/PGP.0000000000001077
Matthias Choschzick, Andre Gut, Ladina Hoesli, Cristina Stergiou
{"title":"Role of Immunohistochemical Analysis of p16 and p53 in Vulvar Carcinoma.","authors":"Matthias Choschzick, Andre Gut, Ladina Hoesli, Cristina Stergiou","doi":"10.1097/PGP.0000000000001077","DOIUrl":"10.1097/PGP.0000000000001077","url":null,"abstract":"<p><p>Tumor human papillomavirus (HPV) status is an important prognostic factor in vulvar cancer as indicated in the latest WHO classification of female genital tract tumors. Immunohistochemical detection of p16 is well established as a surrogate biomarker for tumor HPV association, including squamous cell carcinomas of the vulva. HPV-independent vulvar carcinomas are heterogeneous with 2 subcategories according to the TP53 mutation status. Therefore, the simultaneous use of p53 and p16 immunohistochemistry is recommended for accurate subclassification of vulvar squamous cell carcinomas. However, the role of molecular analytical tools, in particular RNA ISH and TP53 sequencing, is not so clear. This study aimed to investigate the performance of p53 and p16 immunohistochemistry for the diagnosis of vulvar carcinomas in comparison to TP53 mutation analysis and HPV RNA ISH. We analyzed 48 vulvar carcinomas in a tissue microarray format. Sensitivity and specificity for both methods, p16 (100% and 96%) and p53 (95% and 90%) immunohistochemistry for detection of HPV association as well as for TP53 mutations was high. Combining p16 and p53 immunohistochemistry we correctly classified all carcinomas in our series according to current WHO criteria. The sensitivity of HPV RNA ISH for the detection of HPV association was lower compared to p16 immunohistochemistry. Rare HPV-associated cases with TP53 mutation and HPV-independent tumors with p16 overexpression are discussed. In summary, the combined use of p16 and p53 immunohistochemistry for subclassification of vulvar carcinomas is justified in daily practice. Molecular tests should be restricted to rare cases with ambiguous clinicopathologic or immunohistochemical features.</p>","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"308-313"},"PeriodicalIF":1.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545354","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
Molecular Classification of Endometrial Carcinoma: Insights From a Teaching Hospital. 子宫内膜癌的分子分型:来自某教学医院的见解。
IF 1.6 4区 医学
International Journal of Gynecological Pathology Pub Date : 2025-07-01 Epub Date: 2025-01-20 DOI: 10.1097/PGP.0000000000001096
Samah Saharti, Fadwa Altaf
{"title":"Molecular Classification of Endometrial Carcinoma: Insights From a Teaching Hospital.","authors":"Samah Saharti, Fadwa Altaf","doi":"10.1097/PGP.0000000000001096","DOIUrl":"10.1097/PGP.0000000000001096","url":null,"abstract":"<p><strong>Abstract: </strong>Endometrial carcinoma is a heterogeneous disease with distinct molecular subtypes that have varied prognosis and therapeutic implications. Since the development of molecular signatures of malignancy is prominent, we are trying to implement this development in our cases of previously diagnosed endometrial cancer. The aim was to determine the prevalence of specific molecular alterations and correlate the genetic profile with the pathologic features and clinical characteristics. We identified 100 cases of endometrial carcinoma, which were eventually classified using immunostains for mismatch repair (MMR) and p53 proteins, in addition to Sanger analysis for POLE gene (Ex, 9, 13, 14). Our findings showed a high prevalence of nonspecific molecular profile (NSMP) in 46 cases (46%), and MMR deficiency in 30 cases (30%). The worst prognosis was observed in the p53 mutant pattern expressed tumors. No statistical difference in pathologic characteristics was observed when the molecular classification was applied. Of note, mutual molecular grouping assignment appears to be present in 5 (5%) of cases of endometrial carcinoma. This is the first study conducted in Saudi Arabia that investigated the prevalence and implications of these molecular subtypes in endometrial carcinoma. The percentage of cases in our result is similar to what had been published globally.</p>","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"336-339"},"PeriodicalIF":1.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468169","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
A Case of NTRK Fusion Corpus Sarcoma With Pseudobiphasic Growth Pattern and Literature Review. 假性双期生长型NTRK融合体肉瘤1例并文献复习。
IF 1.6 4区 医学
International Journal of Gynecological Pathology Pub Date : 2025-07-01 Epub Date: 2024-12-26 DOI: 10.1097/PGP.0000000000001078
Xiao-Ying Zhang, Han-Wen Jiang, Xiao-Bo Wen, Qian Yu, Ying Li, Hao Wang, Jing Han, Shi-Cong Yang
{"title":"A Case of NTRK Fusion Corpus Sarcoma With Pseudobiphasic Growth Pattern and Literature Review.","authors":"Xiao-Ying Zhang, Han-Wen Jiang, Xiao-Bo Wen, Qian Yu, Ying Li, Hao Wang, Jing Han, Shi-Cong Yang","doi":"10.1097/PGP.0000000000001078","DOIUrl":"10.1097/PGP.0000000000001078","url":null,"abstract":"<p><p>The incidence of neurotrophic tyrosine kinase receptor ( NTRK ) fusion uterine sarcoma is extremely low, and reports have been mostly focused on cases localized to the cervix. So far, only 4 cases have been reported of the uterine corpus. In this study, we reported a case of NTRK fusion corpus sarcoma. This study aimed to expand the morphologic spectrum of this tumor, which showed adenosarcoma-like features not previously described. The tumor was confined to the uterine corpus, polypoid growth, comprised predominantly of a fascicular proliferation of spindle cells, entrapping benign endometrial glands, and exhibited a pseudo-biphasic growth pattern. The tumor showed coexpression of S-100, CD34, and pan-Trk by immunohistochemistry, DNA-sequencing identified TPR-NTRK1 gene fusion and AKT1(E17K) mutation. Four cases of NTRK fusion corpus sarcoma were reviewed. The clinicopathologic features, immunohistochemical phenotype, molecular testing, and prognosis of 5 cases including this one were summarized and analyzed. Most cases exhibited an infiltrative growth pattern and showed mild or moderate cytologic atypia. The potential for these tumors to be misclassified as uterine adenosarcoma or other uterine mesenchymal tumors. The diagnosis relies on pan-Trk, S-100, CD34 immunohistochemistry, and molecular testing. Surgical resection is the mainstay of treatment for most patients. Distinguishing these tumors from morphologic mimics is significant because patients with advanced-stage disease may be treated with TRK inhibitors.</p>","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"374-383"},"PeriodicalIF":1.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12152730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894292","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
Case Report: ESR1::CITED2 Fusion in a Malignant Uterine Tumor Resembling Ovarian Sex Cord Tumor. 病例报告:ESR1::CITED2融合治疗类似卵巢性索瘤的恶性子宫肿瘤。
IF 1.6 4区 医学
International Journal of Gynecological Pathology Pub Date : 2025-07-01 Epub Date: 2025-01-09 DOI: 10.1097/PGP.0000000000001092
Ferheen Abbasi, Marisa R Nucci, Ben Doron, Rachel Ruskin, Jeremy Chien, Jaclyn C Watkins, Anthony N Karnezis
{"title":"Case Report: ESR1::CITED2 Fusion in a Malignant Uterine Tumor Resembling Ovarian Sex Cord Tumor.","authors":"Ferheen Abbasi, Marisa R Nucci, Ben Doron, Rachel Ruskin, Jeremy Chien, Jaclyn C Watkins, Anthony N Karnezis","doi":"10.1097/PGP.0000000000001092","DOIUrl":"10.1097/PGP.0000000000001092","url":null,"abstract":"<p><p>Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare, typically benign uterine tumor occurring over a wide age range (mean 52.4 yr). UTROSCTs often harbor translocations between ESR1 and nuclear receptor coactivators NCOA1-NCOA3 . Here, we present a 21-yr-old woman with a 16 cm complex uterine mass on CT. Grossly, the tumor had an infiltrative appearance. Histologically, it consisted of mild to moderately atypical, spindled cells with ovoid nuclei, growing in fascicles and cords within fibrous to myxohyaline stroma, with tongue-like infiltration of the myometrium. Immunohistochemically, tumor cells were positive for AE1/AE3, ER, PR, vimentin, WT-1, and CD56, and negative for inhibin, calretinin, SMA, desmin, and CD10. Whole exome and whole transcriptome sequencing identified a pathogenic ESR1::CITED2 fusion. The tumor recurred twice (15 and 21 mo after initial surgery) in the abdomen and pelvis. Taken together, the findings suggest this tumor may represent a malignant UTROSCT variant with a novel translocation.</p>","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"368-373"},"PeriodicalIF":1.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046073","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
Gynecologic Leiomyosarcoma With Epithelioid Features and PGR::NR4A3 Gene Fusion: First Report in the Vulva. 具有上皮样特征和PGR::NR4A3基因融合的妇科平滑肌肉瘤:外阴首次报道。
IF 1.6 4区 医学
International Journal of Gynecological Pathology Pub Date : 2025-07-01 Epub Date: 2025-03-12 DOI: 10.1097/PGP.0000000000001089
Prerna Chadha, Justin Soon Boon Wong, Dimple Kandhari Ahluwalia, Jeffrey Jen Hui Low, Yingting Mok
{"title":"Gynecologic Leiomyosarcoma With Epithelioid Features and PGR::NR4A3 Gene Fusion: First Report in the Vulva.","authors":"Prerna Chadha, Justin Soon Boon Wong, Dimple Kandhari Ahluwalia, Jeffrey Jen Hui Low, Yingting Mok","doi":"10.1097/PGP.0000000000001089","DOIUrl":"10.1097/PGP.0000000000001089","url":null,"abstract":"<p><p>Vulval leiomyosarcomas with variant features are rare with limited data available in the literature compared to their uterine counterparts. Gynecologic leiomyosarcoma with nuclear receptor 4A3 (NR4A3) gene fusion is a rare, recently described neoplasm that has been reported mostly in the uterus and rarely in the pelvis. Herein, we report the first case of this entity occurring as a primary vulva tumor in a 46-year-old patient. Histologic examination showed a multi-nodular tumor composed of monomorphic epithelioid, rhabdoid and spindled cells arranged in sheets, cords and microcysts within a richly vascularised, myxoid stroma. On immunohistochemistry, the tumor cells were positive for desmin, smooth muscle actin, h-caldesmon, as well as ER and WT1. Gene fusion analysis revealed the presence of a PGR::NR4A3 gene fusion involving exon 2 of PGR and exon 2 of NR4A3 . Local recurrence occurred one year after initial excision. Recognition of this rare subtype of gynecologic leiomyosarcoma in the vulva may help refine the classification of unusual vulvovaginal smooth muscle neoplasms.</p>","PeriodicalId":14001,"journal":{"name":"International Journal of Gynecological Pathology","volume":" ","pages":"364-367"},"PeriodicalIF":1.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143614883","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
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