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Published on: September 13, 2019
Constitutional balanced translocations in alveolar rhabdomyosarcoma
S Savaşan1, A Lorenzana, J A Williams
1Department of Pathology and Laboratory Medicine, Barbara Ann Karmanos Cancer Institute and Children's Hospital of Michigan, Detroit, USA.
Abstract:
Chromosomal analysis of tumor tissue from two children with alveolar rhabdomyosarcoma revealed t(1;5)(q32;q31) and t(1;22)(q21;q11.2) in all metaphases examined, respectively. Peripheral blood lymphocytes carried the same cytogenetic abnormality as that of the tumor cells in both patients. Parental lymphocytes were karyotypically normal in the patient with t(1;22), indicating a de novo constitutional translocation, but t(1;5) was paternally inherited in the other patient. The presence of constitutional translocations in these two children might have contributed to the development of alveolar rhabdomyosarcoma.
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