Translocation (1;22)(p36;q11.2) with concurrent del(22)(q11.2) resulted in homozygous deletion of SNF5/INI1 in a newly established cell line derived from extrarenal rhabdoid tumor

Journal of Human Genetics
Akiko MisawaJ Inazawa

Abstract

Malignant rhabdoid tumor (MRT) is a highly malignant pediatric cancer, which arises in various sites such as the kidney, brain, and soft tissues. Cytogenetic studies have revealed alterations of 22q11 in MRT. Recently, deletions and mutations of the SNF5/INI1 locus in 22q11.2 have been reported in MRT, suggesting that SNF5/INI1 is a tumor suppressor gene for MRT. Here we report our molecular cytogenetic study for a newly established cell line from extrarenal MRT with t(1;22)(p36;q11.2). Consequently, the reciprocal translocation was associated with the interstitial deletion of a small segment including SNF5/INI1, and another, chromosome 22, showed terminal deletion, the breakpoint of which was located 70-80 kb centromeric to SNF5/INI1, resulting in homozygous deletion of SNF5/INI1 in this cell line.

Citations

Oct 10, 2007·Journal of Pediatric Surgery·Hajime HosoiT Sugimoto
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Dec 13, 2005·Cancer Genetics and Cytogenetics·Toshihito NagataHideo Mugishima
Jun 3, 2015·Genes, Chromosomes & Cancer·Alexis L NorrisJames R Eshleman
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Nov 13, 2020·Pediatric Blood & Cancer·Tomoo DaifuYasuhiko Kamikubo
Feb 19, 2008·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Yoshiki KatsumiTohru Sugimoto
Aug 11, 2010·Biochemical and Biophysical Research Communications·Mitsuru MiyachiHajime Hosoi

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