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01-03-2009 | Original Article

RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome

Authors: Maria Cristina Roberti, Roberta La Starza, Cecilia Surace, Pietro Sirleto, Rita Maria Pinto, Valentina Pierini, Barbara Crescenzi, Cristina Mecucci, Adriano Angioni

Published in: Virchows Archiv | Issue 3/2009

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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Title: RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome
Authors: Maria Cristina Roberti
Roberta La Starza
Cecilia Surace
Pietro Sirleto
Rita Maria Pinto
Valentina Pierini
Barbara Crescenzi
Cristina Mecucci
Adriano Angioni
Publication date: 01-03-2009
Publisher: Springer-Verlag
Published in: Virchows Archiv / Issue 3/2009
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-009-0732-z

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RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome

Abstract

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Abstract

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