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

doi:10.1016/j.cancergencyto.2007.07.018

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

Research output: Contribution to journal › Article › Research › peer-review

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 language	English
Pages (from-to)	62-65
Journal	Cancer Genetics and Cytogenetics
Volume	179
Issue number	1
DOIs	https://doi.org/10.1016/j.cancergencyto.2007.07.018
Publication status	Published - 1 Nov 2007

Access to Document

10.1016/j.cancergencyto.2007.07.018

Fingerprint Dive into the research topics of 'Gain of multiple copies of the CBFB gene: a new genetic aberration in a case of granulocytic sarcoma'. Together they form a unique fingerprint.

Cite this

@article{623b1a991e404cc5ba2cc8b74ffef478,

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

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. {\textcopyright} 2007 Elsevier Inc. All rights reserved.",

author = "Mar Mallo and Blanca Espinet and Marta Salido and Ana Ferrer and Carmen Pedro and Carles Besses and Encarna P{\'e}rez-Vila and Sergi Serrano and Lourdes Florensa and Francesc Sol{\'e}",

year = "2007",

month = nov,

day = "1",

doi = "10.1016/j.cancergencyto.2007.07.018",

language = "English",

volume = "179",

pages = "62--65",

number = "1",

}

Gain of multiple copies of the CBFB gene: a new genetic aberration in a case of granulocytic sarcoma. / Mallo, Mar; Espinet, Blanca; Salido, Marta; Ferrer, Ana; Pedro, Carmen; Besses, Carles; Pérez-Vila, Encarna; Serrano, Sergi; Florensa, Lourdes; Solé, Francesc.

In: Cancer Genetics and Cytogenetics, Vol. 179, No. 1, 01.11.2007, p. 62-65.

Research output: Contribution to journal › Article › Research › peer-review

TY - JOUR

T1 - Gain of multiple copies of the CBFB gene: a new genetic aberration in a case of granulocytic sarcoma

AU - Mallo, Mar

AU - Espinet, Blanca

AU - Salido, Marta

AU - Ferrer, Ana

AU - Pedro, Carmen

AU - Besses, Carles

AU - Pérez-Vila, Encarna

AU - Serrano, Sergi

AU - Florensa, Lourdes

AU - Solé, Francesc

PY - 2007/11/1

Y1 - 2007/11/1

N2 - 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.

AB - 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.

U2 - 10.1016/j.cancergencyto.2007.07.018

DO - 10.1016/j.cancergencyto.2007.07.018

M3 - Article

VL - 179

SP - 62

EP - 65

IS - 1

ER -