ArticleCancer genomics & proteomics
Fusion of the Genes
Article in Cancer genomics & proteomics. 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, 32 citations in OpenAlex.
- A framework for target discovery in rare cancers.bioRxiv : the preprint server for biology · 2024Article
- Article
- TFE3 nuclear expression as a novel biomarker of ovarian sclerosing stromal tumors and associated with its histological morphology.Journal of ovarian research · 2023Article
- Review
- Malignant chondroid syringoma: A systematic review.Skin health and disease · 2023Article
- TFE3 is a Novel Biomarker of Ovarian Sclerosing Stromal Tumours.Research square · 2023Article
- Article
- A central role for regulated protein stability in the control of TFE3 and MITF by nutrients.Molecular cell · 2023Article
- A review of neoplasms with MITF/MiT family translocations.Histology and histopathology · 2022Review
- Absence of TFE3 Immunoexpression in a Spectrum of Cutaneous Mixed Tumors: A Retrospective Pilot Study.Dermatopathology (Basel, Switzerland) · 2022Article
- Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors.Cancers · 2022Review
- Current Diagnosis and Treatment Options for Cutaneous Adnexal Neoplasms with Apocrine and Eccrine Differentiation.International journal of molecular sciences · 2021Review
- Article
- Fusion of theIn vivo (Athens, Greece)Article
- Recurrent Fusion of the Genes for High-mobility Group AT-hook 2 (Cancer genomics & proteomicsArticle
- NovelCancer genomics & proteomicsArticle
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimMalignant chondroid syringoma is a rare tumor of unknown pathogenesis. MATERIALS AND
methodsGenetic analyses were performed on a malignant chondroid syringoma.
resultsG-banding analysis of short-term cultured tumor cells yielded the karyotype 46,Y,t(X;6)(p11;p21)[15]/46,XY[2]. RNA sequencing detected an in-frame fusion of PHF1 from 6p21 with TFE3 from Xp11, verified by RT-PCR and Sanger sequencing. Genomic PCR showed that the PHF1-TFE3 junction was identical to the fusion found by RNA sequencing and RT-PCR.
conclusionMalignant chondroid syringoma is genetically related to tumors with PHF1 rearrangements such as low-grade endometrial sarcoma and ossifying fibromyxoid tumor, but also with tumors having TFE3 rearrangements such as renal cell carcinoma, alveolar soft part sarcoma, PEComa, and epithelioid hemangioendothelioma. Further investigations on malignant chondroid syringomas are needed in order to determine whether genetic heterogeneity exists among them and the clinical impact of the PHF1-TFE3 fusion.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.