title: GATA-2 L359 V mutation is exclusively associated with CML progression but not other hematological malignancies and GATA-2 P250A is a novel single nucleotide polymorphism.
abstract: Chronic myeloid leukemia (CML) progression is characterized by occurrence of new cytogenetic and molecular abnormalities. In the previous study, we have shown the important role of GATA-2 L359 V mutation in CML progression. To further ascertain the truth of transcription factor GATA-2 in hematological malignancies, we expanded our study to GATA-2 full length by directly sequencing and applied MassARRAY assay into GATA-2 L359 V mutation analysis. Finally, no GATA-2 L359 V mutation was found in 270 acute myeloid leukemia, 30 myelodysplastic syndrome, 50 acute lymphoblastic leukemia, 12 chronic lymphocytic leukemia, 40 CML chronic phase and 286 BCR/ABL negative myeloproliferative disorders except CML blast crisis. A new variation of GATA-2 resulted in P250A change was identified, which was not found to have statistical difference between patients with hematological malignancies and healthy control. Hence, we concluded GATA-2 L359 V is exclusively associated with CML progression but not other hematological malignancies and P250A is a new single nucleotide polymorphism.
authors.affiliation: Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China. sujiangzhang@hotmail.com
authors.forename: Su-Jiang
authors.initials: SJ
authors.lastname: Zhang
authors.forename: Jing-Yi
authors.initials: JY
authors.lastname: Shi
authors.forename: Jian-Yong
authors.initials: JY
authors.lastname: Li
mesh_terms: D019943:Amino Acid Substitution; D001752:Blast Crisis / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics* / Q000378:metabolism; D019337:Hematologic Neoplasms / Q000235:genetics / Q000378:metabolism; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human