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.
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Acknowledgements
Grant support: grants-in-aid for Scientific Research on priority areas (C) and the Center of Excellence Program for Research on molecular destruction and reconstruction of tooth and bone from the Ministry of Education, Culture, Sports, Science, and Technology, Japan; and a grant-in-aid from Core Research for Evolutionary Science and Technology of the Japan Science and Technology Corporation.
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Misawa, A., Hosoi, H., Imoto, I. et al. 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. J Hum Genet 49, 586–589 (2004). https://doi.org/10.1007/s10038-004-0191-y
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DOI: https://doi.org/10.1007/s10038-004-0191-y
