Fusion of the Genes and in Malignant Chondroid Syringoma

Overview

Journal Cancer Genomics Proteomics

Specialties Biochemistry
Genetics
Oncology

Date 2019 Aug 31

PMID 31467228

Citations 16

Authors

Ioannis Panagopoulos

Ludmila Gorunova

Marius Lund-Iversen

Assia Bassarova

Sverre Heim

Affiliations

Soon will be listed here.

Abstract

Background/aim: Malignant chondroid syringoma is a rare tumor of unknown pathogenesis.

Materials And Methods: Genetic analyses were performed on a malignant chondroid syringoma.

Results: G-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.

Conclusion: Malignant 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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