Abstract
In this study, we report the molecular cytogenetic characterization of an acute myeloid leukemia with a der(Y)t(Y;1)(q12;q25) in bone marrow cells in a child with Klinefelter syndrome. Conventional cytogenetics demonstrated the unbalanced translocation, i.e., a trisomic 1q25-qter juxtaposed to Yq12 replaced the terminal segment of chromosome Y was acquired and present only on bone marrow cells. Fluorescence in situ hybridization showed that the breakpoint at 1q25 disrupted RABGAP1L, a strongly expressed gene in CFU-GEMM, erythroid cells, and megakaryocytes, while the Yq12 breakpoint fell within the heterochromatic region. As der(Y)t(Y;1)(q12;q25) was an isolated cytogenetic change, RABGAP1L rearrangement as well as gene(s) dosage effects correlated to 1q25-qter trisomy, and Yq12-qter loss may make a major contribution to leukemogenesis and/or disease progression.
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Acknowledgements
AIRC (Associazione Italiana Ricerca sul Cancro), MIUR-PRIN (Consiglio Nazionale delle Ricerche-Ministero per l’Istruzione, l’Università e la Ricerca Scientifica); Fondazione Cassa di Risparmio, Perugia, Italy; BAC and PAC clones belong to the Roswell Park Cancer Institute library (http://www.chori.org/bacpac/) and were kindly provided by Dr. Mariano Rocchi (DIGEMI, University of Bari, Italy).
The authors wish to thank Dr. Geraldine Boyd for assistance in the preparation of the manuscript.
The authors declare that they have no conflict of interest.
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Maria Cristina Roberti and Roberta La Starza should be regarded as joint first authors.
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Roberti, M.C., La Starza, R., Surace, C. et al. RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome. Virchows Arch 454, 311–316 (2009). https://doi.org/10.1007/s00428-009-0732-z
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DOI: https://doi.org/10.1007/s00428-009-0732-z