A novel and consistent amplicon at 13q31 associated with alveolar rhabdomyosarcoma

Rhabdomyosarcomas are the most common soft-tissue sarcoma found in children . The alveolar subtype is clinically more aggressive than the embryonal sub type. In addition to the presence of specific chromosome translocations and associated fusion gene products in a high proportion of the alveolar subty pe, we previously showed that tumors with this histology frequently show ev idence of genomic amplification. Here, we substantially extended the number of alveolar rhabdomyosarcoma samples examined by comparative genomic hybri dization analysis. Regions of loss were noted, including the smallest overl apping regions corresponding to 16q, 17/17p, and 9q32-34, in 16%, 10%, and 10% of cases, respectively (44 primary samples/6 cell lines). Amplification or gain at 12q13-15 in the region of the MDM2/GLII/SAS/CDK4 loci and 2p24 at the MYCN locus was found in 28% and 32% of cases, respectively. Single a mplicons were found at locations that in other samples showed consistent ga in, including the regions 5q15-23, 7q21-31, 11p11-14, 17q23-24, and 20q13, and amplification was found in Mo cases at 15q24-26. However, most striking was a novel region of amplification or gain at 13q31 in 19% of cases (51 p rimary samples/6 cell lines). This indicates that a gene or genes at 13q31 are significant in the development or progression of alveolar rhabdomyosarc oma. Genes Chromosomes Cancer 28:220-226, 2000. (C) 2000 Wiley-Liss, Inc.