Chromosome 16 inversion-associated translocations in acute myeloid leukemia elucidated using a dual-color CBFB DNA probe

• Published in: Cancer genetics and cytogenetics 2002-04, Vol.134 (2), p.142-144
• Main Authors: Aventı́n, Anna, Espadaler, Montserrat, Casas, Sı́lvia, Duarte, José, Nomdedéu, Josep, Sierra, Jorge
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Chromosome Inversion; Chromosomes, Human, Pair 16 - genetics; Color; Core Binding Factor beta Subunit; DNA Probes - genetics; DNA Probes - metabolism; DNA-Binding Proteins - genetics; Hematologic and hematopoietic diseases; Humans; In Situ Hybridization, Fluorescence - methods; Karyotyping; Leukemia, Myeloid, Acute - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; Middle Aged; Transcription Factor AP-2; Transcription Factors - genetics; Translocation, Genetic - genetics
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/S0165-4608(01)00616-1

We describe two cases of acute myelomonocytic leukemia with eosinophilia (AML-M4Eo) that were diagnosed with an inv(16)(p13q22) based on conventional cytogenetics (CC) and fluorescence in situ hybridization (FISH) technique using a chromosome 16p arm specific paint probe. Additional FISH analysis with a dual-color CBFB DNA probe showed that the 3′ portion of the CBFB gene was translocated to chromosome 10p13 in the first patient and 1p36 in the other. These two cases indicate that some inv(16)(p13q22) identified by CC and FISH with chromosome arm-specific painting probe may represent cases of inversion-associated translocation. We suggest that all cases with inv(16)(p13q22) should be investigated by FISH with appropriate probes for a possible translocation of 16q22→qter to another chromosome.