A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia

• Published in: Cancer genetics and cytogenetics Vol. 135; no. 1; pp. 96 - 100
• Main Authors: Mikhail, Fady M, Serry, Kadreya A, Hatem, Nadia, Mourad, Zeinab I, Farawela, Hala M, El Kaffash, Dalal M, Coignet, Lionel, Nucifora, Giuseppina
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.05.2002; Elsevier Science
• Subjects: Biological and medical sciences; Child; Chromosome Mapping; Chromosomes, Human, Pair 21 - genetics; Chromosomes, Human, Pair 21 - ultrastructure; Chromosomes, Human, Pair 4 - genetics; Chromosomes, Human, Pair 4 - ultrastructure; Core Binding Factor Alpha 2 Subunit; DNA-Binding Proteins - genetics; Hematologic and hematopoietic diseases; Humans; In Situ Hybridization, Fluorescence; Leukemia-Lymphoma, Adult T-Cell - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; Metaphase; Proto-Oncogene Proteins; Transcription Factors - genetics; Translocation, Genetic; Tropical medicine; Chromosomal aberration; Human; Breakpoint; Pathophysiology; Acute; Exploration; Malignant hemopathy; Case study; Gene; Abnormal chromosome B4; Lymphoproliferative syndrome; Abnormal chromosome; Abnormal chromosome G21; Disruption; Acute lymphocytic leukemia; Molecular biology; Transcription factor; Chromosome translocation
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/S0165-4608(01)00633-1

The AML1 gene (also known as RUNX1 or CBFA2), located in chromosome band 21q22, encodes a transcription factor which heterodimerizes with the CBFβ protein forming a complex called human core binding factor (CBF). The CBF complex appears to regulate a number of genes important for hematopoiesis. AML1 is one of the most common targets of chromosomal rearrangements in human leukemias and has been involved in 14 chromosomal translocations to date. Here we report a new chromosomal translocation, t(4;21)(q31;q22) that disrupts the AML1 gene in a 12-year-old boy with newly diagnosed T-cell acute lymphoblastic leukemia (ALL). This is the first reported chromosomal translocation where AML1 is rearranged in childhood T-cell ALL. By metaphase fluorescence in situ hybridization analysis, the AML1 breakpoint was mapped using recombinant phage clones, and shown to be either immediately upstream or downstream of exon 5.