ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2019
DICER1 mutations are frequent in müllerian adenosarcomas and are independent of rhabdomyosarcomatous differentiation.
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 32 papers.
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32 citing papers in PubMed, 63 citations in OpenAlex.
- Spatial single cell transcriptomic analysis informs tumor developmental hierarchy of DICER1 syndrome related sarcoma.Nature communications · 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
- Mapping the Natural History of Benign DICER1-Related Lesions and Identifying Predictors of Malignancy.Fortune journal of health sciences · 2026Article
- A case report of uterine adenosarcoma with sarcomatous overgrowth and pulmonary metastasis.Frontiers in oncology · 2026Article
- Review
- From Benign Polyp to High-Grade Endometrial Sarcoma: A Case Report with Imaging Correlation.Diagnostics (Basel, Switzerland) · 2025Article
- Clinicopathological analysis of 13 patients with embryonal rhabdomyosarcoma of the female reproductive system in the Chinese population.Frontiers in oncology · 2025Article
- DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Botryoid-type Embryonal Rhabdomyosarcoma: A Comprehensive Clinicopathologic and Molecular Appraisal With Cross-comparison to its Conventional-type Counterpart.The American journal of surgical pathology · 2024Article
- p160 nuclear receptor coactivator family members and their role in rare fusion‑driven neoplasms (Review).Oncology letters · 2024Review
- Clinicopathological analysis of 22 Müllerian adenosarcomas and the sequencing of DICER1 mutation.Diagnostic pathology · 2024Article
- Case report: An atypical case of uterine adenosarcoma with extensive bizarre stromal cells and amplification of MDM2.Frontiers in oncology · 2024Article
- Article
- Endometrial polyps are non-neoplastic but harbor epithelial mutations in endometrial cancer drivers at low allelic frequencies.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Mullerian adenosarcoma: clinicopathologic and molecular characterization highlighting recurrent BAP1 loss and distinctive features of high-grade tumors.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Phenotypic similarities within the morphologic spectrum of DICER1-associated sarcomas and pleuropulmonary blastoma: Histopathologic features guide diagnosis in the LMIC setting.Pediatric blood & cancer · 2022Article
- Atypical uterine polyps show morphologic and molecular overlap with mullerian adenosarcoma but follow a benign clinical course.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms.Journal of human genetics · 2021Review
- Embryonal rhabdomyosarcoma of the uterine corpus: a clinicopathological and molecular analysis of 21 cases highlighting a frequent association with DICER1 mutations.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Genetic characterisation of adult primary pleomorphic uterine rhabdomyosarcoma and comparison with uterine carcinosarcoma.Histopathology · 2021Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Müllerian adenosarcomas are biphasic epithelial-mesenchymal tumors with benign epithelial and malignant mesenchymal components. The sarcoma component may be low or high grade; the latter is often seen in the presence of stromal overgrowth, which correlates with worse clinical outcome. Heterologous differentiation may also occur, usually in association with stromal overgrowth. DICER1 mutations have been reported primarily in a small subset of adenosarcomas with rhabdomyosarcomatous elements, but whether these are specific to the rhabdomyosarcomatous phenotype is unclear. In this study, we examined the clinical, pathologic, and genomic features of 19 müllerian adenosarcomas enriched for tumors with rhabdomyosarcomatous differentiation, as well as eight uterine carcinosarcomas with a rhabdomyosarcoma component. Somatic hotspot mutations in the RNase IIIb domain of DICER1 were identified in 8/19 (42%) adenosarcomas, of which four showed rhabdomyosarcomatous differentiation. DICER1 mutations were detected in 4/6 (67%) cases with a rhabdomyosarcoma component and in 4/11 (36%) cases without rhabdomyosarcoma. At least two DICER1 mutations were identified in 7/8 (88%) tumors, of which four had a truncating mutation. The hotspot DICER1 mutation in the remaining tumor was hemizygous and associated with loss of heterozygosity. Other less frequent recurrent somatic pathogenic alterations included Ras or PI3K/PTEN pathway aberrations (5/19 each, 26%), CDK4/MDM2 amplifications (3/19, 16%), and mutations in TP53 (3/19) and ARID1A (3/19). Two tumors demonstrated homozygous BAP1 deletion. One tumor harbored an ESR1-NCOA3 fusion gene. Carcinosarcomas with rhabdomyosarcomatous differentiation showed frequent mutations in TP53 (7/8, 88%) and the PI3K/PTEN pathway (6/8, 75%) but lacked DICER1 mutations. The findings highlight the importance of DICER1 mutations in müllerian adenosarcoma tumorigenesis and show that these alterations are not exclusive to heterologous rhabdomyosarcomatous differentiation.
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