Gain of multiple copies of the CBFB gene: a new genetic aberration in a case of granulocytic sarcoma

Mar Mallo, Blanca Espinet, Marta Salido, Ana Ferrer, Carmen Pedro, Carles Besses, Encarna Pérez-Vila, Sergi Serrano, Lourdes Florensa, Francesc Solé

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6 Citations (Scopus)

Abstract

Granulocytic sarcomas (GS) are tumor masses of immature myeloid cells presenting at an extramedullary site, mainly the skin, bone, and lymph node. They are often associated with acute myeloid leukemia (AML) with monoblastic or myelomonocytic differentiation, including either AML M2 with t(8;21)(q22;q22) or AML M4Eo with inv(16)(p13q22). We present a case diagnosed with GS associated with AML M4 that presented a normal karyotype with conventional cytogenetic analysis. Although the myeloblasts did not show the inv(16)(p13q22) (CBFB/MYH11), a gain of multiple copies of the CBFB gene was detected with fluorescence in situ hybridization analysis. To our knowledge, no cases with this rare genetic anomaly have been previously described. © 2007 Elsevier Inc. All rights reserved.
Original languageEnglish
Pages (from-to)62-65
JournalCancer Genetics and Cytogenetics
Volume179
Issue number1
DOIs
Publication statusPublished - 1 Nov 2007

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