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RBM10

Monday 26 August 2019

WKP

Definition : RNA-binding protein 10 is a protein that in humans is encoded by the RBM10 gene.

The protein encoded by this gene contains RNA recognition motif found in a variety of RNA binding proteins, including various hnRNP proteins, proteins implicated in regulation of alternative splicing, and protein components of snRNPs.

In vitro studies showed that the rat homolog bound to RNA homopolymers, with a preference for G and U polyribonucleotides. This gene is part of a gene cluster located at Xp11.23 on X chromosome, and its 3’ end lies within 20 kb upstream of UBE1. Two transcript variants encoding different isoforms have been identified for this gene.

Pathology

- RBM10-TFE3 Renal Cell Carcinoma: A Potential Diagnostic Pitfall Due to Cryptic Intrachromosomal Xp11.2 Inversion Resulting in False-negative TFE3 FISH.

  • RBM10-TFE3 is a recurrent gene fusion in Xp11 translocation RCC.
  • It is a source of false-negative TFE3 break-apart FISH.
  • It highlights the complementary role of TFE3 IHC and TFE3 FISH.

Open references

- RBM10-TFE3 Renal Cell Carcinoma: A Potential Diagnostic Pitfall Due to Cryptic Intrachromosomal Xp11.2 Inversion Resulting in False-negative TFE3 FISH. Argani P, Zhang L, Reuter VE, Tickoo SK, Antonescu CR. Am J Surg Pathol. 2017 May;41(5):655-662. doi : 10.1097/PAS.0000000000000835 PMID: 28296677