Journal Search Engine
Search Advanced Search Adode Reader(link)
Download PDF Export Citaion korean bibliography PMC previewer
ISSN : 1225-0082(Print)
ISSN : 2288-1905(Online)
The Medical Journal of Chosun University Vol.38 No.1 pp.20-22
DOI :

De novo Acute Myeloid Leukemia with JAK2 V617F: A Case Report

Geon Park1,*, Woo Sung Kim1, Gyun Cheol Park1, Sung Ho Kang1, Chi Young Park2, Sook Jin Jang1,3, Dae Soo Moon1

1Department of Laboratory Medicine, 2Department of Internal Medicine,
3Research Center for Resistant Cells, College of Medicine, Chosun University
(Received December 26, 2012; Accepted March 15, 2013)

Abstract

JAK2 V617F mutation is a common event in chronic myeloproliferative disorders. However, de novo acute myeloid leukemiawith JAK2 V617F is rarely encountered. The authors report the case of a 74-year-old male with de novo acute myeloblasticleukemia without maturation (AML M1) and a JAk2 V617F heterozygotic mutation. Despite treatment with standardAML regimens, the patient died 2 months after a diagnosis of acute leukemia. This case of an AML patient with a JAK2V617F mutation with a poor prognosis suggests that despite its rarity, a JAK2 V617F mutational study be considered forprognostic purposes in AML.

AML,M1,JAK2,V617F

Reference

1.Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-90.
2.Kim JT, Cho YG, Choi SI, Lee YJ, Kim HR, Jang SJ, Moon DS, Park YJ, Park G. JAK2 V617F and exon 12 genetic variations in Korean patients with BCR/ABL1- negative myeloproliferative neoplasms. Korean J Lab Med 2010; 30: 567-74.
3.James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434 :1144–8.
4.Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054–61.
5.Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005; 106: 2162–8.
6.Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prchal JT, Verstovsek S, Beran M, Estey E, Kantarjian. JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood 2005; 106: 3370-3.
7.Illmer T, Schaich M, Ehninger G, Thiede C. DSIL2003 AML study group. Tyrosine kinase mutations of JAK2 are rare events in AML but influence prognosis of patients with CBF-leukemias. Haematologica 2007; 92: 137-8.
8.Hatzimichael E, Georgiou G, Benetatos L, Briasoulis E. Gene mutations and molecularly targeted therapies in acute myeloid leukemia. Am J Blood Res 2013; 3: 29-51.
9.Steensma DP, McClure RF, Karp JE, Tefferi A, Lasho TL, Powell HL. JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained. Leukemia 2006; 20: 971-8.