JAK2 V617F mutation is associated with 5q-syndrome in Chinese

Leukemia and Lymphoma

Volumn 50, Issue 8, 2009, Pages 1333-1335

  Wong, K F ^a   Wong, W S ^a   Siu, Lisa L P ^a   Lau, T C ^a   Chan, N P ^b  

^a QUEEN ELIZABETH HOSPITAL   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

5q syndrome; dysplasias; JAK2; myeloid leukemias

Indexed keywords

JANUS KINASE 2; JAK2 PROTEIN, HUMAN;

5Q- SYNDROME; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE DURATION; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MYELOID LEUKEMIA; PRIORITY JOURNAL; REFRACTORY ANEMIA; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA; RETROSPECTIVE STUDY; THROMBOCYTE COUNT; ACUTE GRANULOCYTIC LEUKEMIA; CHROMOSOME 5; CHROMOSOME DELETION; CODON; ENZYMOLOGY; GENETICS; HONG KONG; KARYOTYPING; MIDDLE AGED; MYELODYSPLASTIC SYNDROME; POINT MUTATION; REFRACTORY ANEMIA WITH EXCESS BLASTS; SYNDROME;

ADULT; AGED; AGED, 80 AND OVER; ANEMIA, REFRACTORY, WITH EXCESS OF BLASTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; CODON; DISEASE PROGRESSION; FEMALE; HONG KONG; HUMANS; JANUS KINASE 2; KARYOTYPING; LEUKEMIA, MYELOID, ACUTE; MIDDLE AGED; MYELODYSPLASTIC SYNDROMES; POINT MUTATION; RETROSPECTIVE STUDIES; SYNDROME;

EID: 77649282030     PISSN: 10428194     EISSN: 10292403     Source Type: Journal    
DOI: 10.1080/10428190903060103     Document Type: Article

References (12)

1. Smith CA, Fan G. The saga of JAK2 mutations and translocations in hematologic disorders: pathogenesis, diagnostic and therapeutic prospects, and revised World Health Organization diagnostic criteria for myeloproliferative neoplasms. Hum Pathol 2008;39:795-810. (Pubitemid 351758946)
2. Jelinek J, Oki Y, Gharibyan V, et al. JAK2 mutation 1849G4T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood 2005;106:3370-3373. (Pubitemid 41609167)
3. Levine RL, Loriaux M, Huntly BJ, et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 2005;106:3377-3379. (Pubitemid 41609169)
4. Szpurka H, Tiu R, Murugesan G, et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood 2006;108:2173-2181. (Pubitemid 44497497)
5. Ceesay MM, Lea NC, Ingram W, et al. The JAK2 V617F mutation is rare in RARS but common in RARS-T. Leukemia 2006;20:2060-2061. (Pubitemid 44614905)
6. 9/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable. Blood 2007;109:1334-1335. (Pubitemid 46220688)
7. Schmitt-Graeff AH, Teo SS, Olschewski M, et al. JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica 2008;93:34-40. (Pubitemid 351156149)
8. Steensma DP, Dewald GW, Lasho TL, et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. Blood 2005;106:1207-1209. (Pubitemid 41129580)
9. Ingram W, Lea NC, Cervera J, et al. The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow. Leukemia 2006;20:1319-1321. (Pubitemid 43905846)
10. Swerdlow SH, Campo E, Harris NL, et al., editors. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edn. Lyon: IARC; 2008.
11. Mohamedali A, Mufti GJ. Van-den Berghe's 5q-syndrome in 2008. Br J Haematol 2009;144:157-168.
12. Wong KF, Chan J K C, Chu YC, Kwong YL. Clonal evolution in primary 5q-syndrome. Cancer 1992;70:100-103.