Gain of multiple copies of the CBFB gene: a new genetic aberration in a case of granulocytic sarcoma
| Autor: | Ana Ferrer, Carmen Pedro, Mar Mallo, Encarna Perez-Vila, Carles Besses, Lourdes Florensa, Blanca Espinet, Marta Salido, Francesc Solé, Sergi Serrano |
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| Rok vydání: | 2007 |
| Předmět: |
Cancer Research
Myeloid Gene Dosage Biology Gene dosage Core Binding Factor beta Subunit hemic and lymphatic diseases Gene Duplication Genetics medicine MYH11 Humans Sarcoma Myeloid Molecular Biology In Situ Hybridization Fluorescence medicine.diagnostic_test Myeloid leukemia Karyotype Middle Aged medicine.disease Leukemia Leukemia Myeloid Acute medicine.anatomical_structure Karyotyping Cancer research Female Sarcoma Chromosomes Human Pair 16 Fluorescence in situ hybridization |
| Zdroj: | Cancer genetics and cytogenetics. 179(1) |
| ISSN: | 0165-4608 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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