RABGAP1L Gene Rearrangement Resulting from a Der(Y)t(Y;1)(q12;q25) in Acute Myeloid Leukemia Arising in a Child with Klinefelter Syndrome

Overview

Journal Virchows Arch

Specialties Cell Biology
Molecular Biology
Pathology

Date 2009 Feb 3

PMID 19184099

Citations 9

Authors

Maria Cristina Roberti

Roberta La Starza

Cecilia Surace

Pietro Sirleto

Rita Maria Pinto

Valentina Pierini

Barbara Crescenzi

Cristina Mecucci

Adriano Angioni

Affiliations

Soon will be listed here.

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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