ArticleGenes, chromosomes & cancer2020
Genetic diversity in alveolar soft part sarcoma: A subset contain variant fusion genes, highlighting broader molecular kinship with other MiT family tumors.
Article in Genes, chromosomes & cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 37 citations in OpenAlex.
- Fusion-driven oncogenic programs shape the immune landscape in translocation renal cell carcinoma.Nature communications · 2026Article
- Alveolar soft part sarcoma in buccal mucosa of a young child.BMJ case reports · 2026Article
- Intraspinal ASPSCR1::TFE3 rearranged tumor with nerve differentiation.Brain tumor pathology · 2025Article
- A rare case of Alveolar Soft-Part Sarcoma in the Uterine cervix.Diagnostic pathology · 2025Article
- Recent progress in the clinicopathological characteristics of alveolar soft part sarcoma.Frontiers in medicine · 2025Review
- ASPSCR1::TFE3 Drives Alveolar Soft Part Sarcoma by Inducing Targetable Transcriptional Programs.Cancer research · 2024Article
- Cheek alveolar soft part sarcoma recurrence at the primary site during follow-up: a case report and review of the literature.BMC oral health · 2024Review
- Establishment and characterization of NCC-ASPS2-C1: a novel patient-derived cell line of alveolar soft part sarcoma.Human cell · 2024Article
- An unusual case of primary splenic soft part alveolar sarcoma: case report and review of the literature with emphasis on the spectrum of TFE3-associated neoplasms.Diagnostic pathology · 2024Review
- Alveolar Soft Part Sarcoma in the Female Genital Tract: Case Series with Literature Review and SEER Database Analysis.International journal of women's health · 2024Article
- Clinico-Pathological Spectrum of Alveolar Soft Part Sarcoma: Case Series from a Tertiary Care Cancer Referral Centre in India with a Focus on Unusual Clinical and Histological Features.Turk patoloji dergisi · 2024Article
- Advances in treatment of alveolar soft part sarcoma: an updated review.Japanese journal of clinical oncology · 2023Review
- Alveolar Soft Part Sarcoma of the Oro-Maxillofacial Region in the Pediatric Age Group: Immunohistochemical and Ultrastructural Diagnosis of Two Cases.Head and neck pathology · 2021Article
- Epstein-Barr Virus-Associated Smooth Muscle Tumors of Larynx: A Clinicopathologic Study and Comprehensive Literature Review of 12 Cases.Head and neck pathology · 2021Review
- Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa.Virchows Archiv : an international journal of pathology · 2021Review
- The HNRNPF/H RNA binding proteins and disease.Wiley interdisciplinary reviews. RNAReview
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Alveolar soft part sarcoma (ASPS) is a rare malignancy that, since its initial description, remains a neoplasm of uncertain histogenesis. The disease-defining molecular event characterizing the diagnosis of ASPS is the ASPSCR1-TFE3 fusion gene. Following identification of an index case of ASPS with a novel TFE3 fusion partner, we performed a retrospective review to determine whether this represents an isolated event. We identified two additional cases, for a total of three cases lacking ASPSCR1 partners. The average patient age was 46 years (range, 17-65); two patients were female. The sites of origin included the transverse colon, foot, and dura. Each case exhibited a histomorphology typical of ASPS, and immunohistochemistry was positive for TFE3 in all cases. Routine molecular testing of the index patient demonstrated a HNRNPH3-TFE3 gene fusion; the remaining cases were found to have DVL2-TFE3 or PRCC-TFE3 fusion products. The latter two fusions have previously been identified in renal cell carcinoma; to our knowledge, this is the first report of a HNRNPH3-TFE3 gene fusion. These findings highlight a heretofore underrecognized genetic diversity in ASPS, which appears to more broadly molecularly overlap with that of translocation-associated renal cell carcinoma and PEComa. These results have immediate implications in the diagnosis of ASPS since assays reliant upon ASPSCR1 may yield a false negative result. While these findings further understanding of the molecular pathogenesis of ASPS, issues related to the histogenesis of this unusual neoplasm remain unresolved.
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