Mutational analysis of the KIT gene in myelodysplastic syndrome (MDS) and MDS-derived leukemia

Leukemia Research
Felipe LorenzoHiroshi Shiku

Abstract

The progenitor cells of myelodysplastic syndrome (MDS) are thought to undergo a multistep process during their transformation into overt acute leukemia. In this study, the role of mutation of the KIT gene in the extracellular membrane, juxtamembrane and tyrosine kinase domains was investigated in 75 patients with MDS or MDS-derived leukemia (MDS-AML). Mutation was detected in 2 of 15 (13.3%) patients with refractory anemia with excess blasts transformation (RAEB-T), in 1 of 15 (6.6%) patients with chronic myelomonocytic leukemia (CMML), and in 5 of 26 (19.2%) patients with MDS-AML. However, no mutation was found in any of the nine patients with refractory anemia (RA) or the 10 patients with refractory anemia with excess blasts (RAEB). Of the mutations, five patients had changes at the same codon in tyrosine kinase domain, Asp816, while the remainder had unique mutations. These observations suggest that KIT gene mutations identified in the advanced stage of MDS, and genetic abnormality in the KIT gene, particularly at codon 816, might be additional events that contribute to the progression of MDS to AML.

References

Feb 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·S A RidgeR A Padua
Jan 1, 1988·Leukemia Research·J H ButterfieldG J Gleich
Jul 26, 2000·Hematology/oncology Clinics of North America·B J Longley, D D Metcalfe
May 29, 2004·The Hematology Journal : the Official Journal of the European Haematology Association·Roberto CairoliEnrica Morra
Jan 15, 2005·Proceedings of the National Academy of Sciences of the United States of America·Yue-Ying WangSai-Juan Chen
Mar 10, 2005·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Lee-Yung ShihTzung-Chih Tang
Dec 14, 2005·European Journal of Haematology·Fumihiko MonmaHiroshi Shiku

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Citations

May 13, 2009·Proceedings of the National Academy of Sciences of the United States of America·Jeffrey W TynerBrian J Druker
Jan 27, 2007·Current Opinion in Hematology·Torsten HaferlachSusanne Schnittger
Mar 5, 2016·Surgical Pathology Clinics·Valentina Nardi, Robert P Hasserjian
Nov 4, 2008·Experimental Hematology·Suzanne G UsherLaura Blackwood
Jul 23, 2013·British Journal of Haematology·Austin G KulasekararajGhulam J Mufti
Jan 4, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Jeffrey W CraigElizabeth A Morgan
Jul 24, 2021·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Javier I Muñoz-GonzálezIván Álvarez-Twose

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