Identification of additional cytogenetic and molecular genetic abnormalities in acute myeloid leukaemia with t(8;21)/AML1‐ETO

• Published in: British journal of haematology 2006-09, Vol.134 (6), p.616-619
• Main Authors: Kuchenbauer, F., Schnittger, S., Look, T., Gilliland, G., Tenen, D., Haferlach, T., Hiddemann, W., Buske, C., Schoch, C.
• Format: Article
• Language: English
• Subjects: Acute Disease; acute myeloid leukaemia; Adolescent; Adult; Aged; AML1‐ETO; Biological and medical sciences; Chromosomes, Human, Pair 21; Chromosomes, Human, Pair 8; Core Binding Factor Alpha 2 Subunit - genetics; Cytogenetics; Female; Hematologic and hematopoietic diseases; Humans; In Situ Hybridization, Fluorescence; leukaemogenesis; Leukemia, Myeloid; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; Middle Aged; multistep model; Oncogene Proteins, Fusion - genetics; receptor tyrosine kinases; RUNX1 Translocation Partner 1 Protein; Translocation, Genetic
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/j.1365-2141.2006.06229.x

AML1‐ETO collaborates with further genetic abnormalities to induce acute myeloid leukaemia (AML). We analysed 99 patients with an AML1‐ETO rearrangement for additional aberrations. Frequent genetic abnormalities were, loss of a sex chromosome (56/99, 56·5%) and del(9)(q22) (24/99, 24·2%). The most frequent molecular aberrations were mutations of KITD816 (3/23, 13%) and NRAS (8/89, 8·9%). Further molecular abnormalities were FLT3 mutations (3/87, 3·4%), AML1 (1/26, 3·8%) and PU1 (1/14, 7·1%). MLL‐PTD, KRAS and CEBPA mutations were not found. These clinical findings support the model that AML1‐ETO collaborates with other genetic alterations, such as mutations of receptor tyrosine kinases, to induce AML.