ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2019
Uterine and vaginal sarcomas resembling fibrosarcoma: a clinicopathological and molecular analysis of 13 cases showing common NTRK-rearrangements and the description of a COL1A1-PDGFB fusion novel to uterine neoplasms.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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46 citing papers in PubMed, 1 synthesis or guideline pooled it, 131 citations in OpenAlex.
- Pooled it
- Article
- NTRK-rearranged uterine sarcomas with heterologous rhabdomyoblastic and cartilaginous differentiation: expanding the morphological spectrum with discussion of passenger NTRK molecular events.Virchows Archiv : an international journal of pathology · 2026Article
- ESR1::NCOA2/3 fusions in uterine neoplasms with adenosarcoma-like morphology: clinicopathologic and molecular features of 12 cases and review of the literature.Virchows Archiv : an international journal of pathology · 2026Article
- Tropomyosin 3 Gene Fusions in Cancers: From Mechanisms to Treatments-A Comprehensive Review.Cancer medicine · 2025Review
- Article
- New histopathological and molecular findings in gynecological cancers.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025Review
- Role of NTRK Fusion Genes in the Tumor Immune Microenvironment of HPV (+/-) Cervical Cancer.Journal of medical virology · 2025Review
- Dermatofibrosarcoma protuberans with PDGFD rearrangements: a case series featuring a novel EMILIN1::PDGFD fusion and comprehensive literature review.Virchows Archiv : an international journal of pathology · 2025Review
- CD34-positive pleomorphic uterine sarcoma with NUDT3::RAD51B fusion.Virchows Archiv : an international journal of pathology · 2025Article
- NTRK rearranged spindle cell neoplasm of the uterine cervix: a rare case report and literature review.BMC women's health · 2025Review
- Primary pancreas NTRK-rearranged neoplasm harboring an EVT6::NTRK3 fusion with a sclerosing epithelioid fibrosarcoma morphology: a case report and comprehensive review of the literature.Frontiers in oncology · 2025Article
- Radical tumor resection of a relapsed high-grade endometrial stromal sarcoma with an extremely rare mutation: a case report.AME case reports · 2025Article
- NTRK-rearranged spindle cell neoplasm of the female genital tract: case report and literature review.Frontiers in oncology · 2025Article
- ERBB2/ ERBB3-mutated S100/ SOX10-positive unclassified high-grade uterine sarcoma: first detailed description of a novel entity.Virchows Archiv : an international journal of pathology · 2024Article
- The mutual interplay between NTRK fusion genes and human papillomavirus infection in cervical cancer progression (Review).Molecular and clinical oncology · 2024Review
- ATM, BLM, and CDH1 gene co-mutations in a high-grade endometrial stromal sarcoma patient with multiple abdominal cavity metastases: a case report and literature review.BMC geriatrics · 2024Review
- Uterine Mesenchymal Tumors: Updates on Pathology, Molecular Landscape, and Therapeutics.Medicina (Kaunas, Lithuania) · 2024Review
- TPM3::NTRK1-rearranged uterine sarcoma: case report and literature review.International journal of clinical and experimental pathology · 2024Article
- Article
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Authors and funding
17 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mesenchymal neoplasms of the uterus (corpus and cervix) encompass a heterogeneous group of tumors with differing morphologies, immunophenotypes and molecular alterations. With the advent of modern molecular techniques, such as next generation sequencing, newly defined genetic abnormalities are being reported in this group of neoplasms. Herein we report the clinicopathological and molecular features of a series of 13 spindle cell sarcomas of the uterus and vagina (10 cervix, 2 uterine corpus, 1 vagina) with morphology resembling fibrosarcoma. After targeted RNA-sequencing, dual FISH fusion and array-CGH analysis, 7 of 13 tumors exhibited NTRK rearrangements (6 TPM3-NTRK1 and 1 EML4-NTRK3) and 3 a COL1A1-PDGFB fusion; in the other 3 neoplasms, all of which were positive with S100 (2 diffuse, 1 focal), we identified no rearrangement. All the NTRK fusion-positive sarcomas were located in the cervix and exhibited diffuse staining with Trk while all the other neoplasms were negative. CD34 was diffusely positive in all 3 of the COL1A1-PDGFB fusion sarcomas. The latter molecular abnormality is identical to that commonly found in dermatofibrosarcoma protuberans and has not been reported previously in uterine mesenchymal neoplasms. We suggest that uterine sarcomas with a morphology resembling fibrosarcoma (and in which leiomyosarcoma and the known molecularly confirmed high-grade endometrial stromal sarcomas have been excluded) can be divided into 3 groups:- an NTRK fusion group, a COL1A1-PDGFB fusion group and a group containing neither of these molecular abnormalities which, on the basis of positive staining with S100, could be tentatively classified as malignant peripheral nerve sheath tumor, although additional molecular studies may identify specific genetic alterations necessitating a nomenclature change. We suggest a diagnostic algorithm when reporting such neoplasms. Identification of these newly described fusion-associated sarcomas is important given the potential for targeted treatments.
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