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.
authors.affiliation: Laboratory of Cytogenetics and Molecular Biology and Laboratory of Hematological Cytology (URNHE-IMAS/IMIM and URTTS-IMAS/IMIM), Pathology Service, Hospital del Mar, Passeig Marítim, 25-29, 08003 Barcelona, Spain. mar.mallo@gmail.com
authors.forename: Mar
authors.initials: M
authors.lastname: Mallo
authors.forename: Blanca
authors.initials: B
authors.lastname: Espinet
authors.forename: Marta
authors.initials: M
authors.lastname: Salido
authors.forename: Ana
authors.initials: A
authors.lastname: Ferrer
authors.forename: Carmen
authors.initials: C
authors.lastname: Pedro
authors.forename: Carles
authors.initials: C
authors.lastname: Besses
authors.forename: Encarna
authors.initials: E
authors.lastname: Pérez-Vila
authors.forename: Sergi
authors.initials: S
authors.lastname: Serrano
authors.forename: Lourdes
authors.initials: L
authors.lastname: Florensa
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
mesh_terms: D002885:Chromosomes, Human, Pair 16; D050658:Core Binding Factor beta Subunit / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D023981:Sarcoma, Myeloid / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C493692:CBFB protein, human; D050658:Core Binding Factor beta Subunit