Internal tandem duplication of the FLT3 gene is preferentially seen in acute myeloid leukemia and myelodysplastic syndrome among various hematological malignancies. A study on a large series of patients and cell lines

摘要: In this study, we examined a large number of patients to clarify the distribution and frequency recently described FLT3 tandem duplication among hematopoietic malignancies, including 112 acute myelocytic leukemia (AML), 55 lymphoblastic (ALL), 37 myelodysplastic syndrome (MDS), 20 chronic myelogenous (CML), 30 non-Hodgkin's lymphoma (NHL), 14 adult T cell leukemia, 15 lymphocytic (CLL) 38 multiple myeloma (MM). We also evaluated 71 lines derived from 11 AML, 31 ALL, two hairy three unclassified 10 CML, 12 NHL six Burkitt's lymphoma, MM. Using genomic PCR exon coding for juxtamembrane (JM) domain first amino acids 5'-tyrosine kinase (TK) domain, length mutation was found only in AML (22/112, 20%) MDS (1/37). According FAB subclassification, they were 5/18 (28%) M1, 4/29 (14%) M2, 3/17 (18%) M3, 6/24 (25%) M4, 4/20 (20%) M5 1/9 refractory anemia with excess blast transformation. various examined, abnormality determined one never other hematological malignancies. The sequence analysis abnormal products revealed that 23 24 showed internal or without insertion nucleotides. deletion determined. All lengthened sequences in-frame. Duplication takes place JM leaves TK intact. conclusion, emphasize at JM/TK-I domains restricted MDS. Since all these mutations resulted in-frame, might function proliferation leukemic cells.