MPL 515 and JAK2 mutation analysis in MDS presenting with a platelet count of more than 500 × 109/l [1]

Annals of Hematology

Volumn 87, Issue 5, 2008, Pages 413-415

  Zipperer, Esther ^a,b   Wulfert, M ^a   Germing, U ^a   Haas, R ^a   Gattermann, N ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2; PROTEIN MPL; THROMBOPOIETIN RECEPTOR; UNCLASSIFIED DRUG;

CHRONIC MYELOMONOCYTIC LEUKEMIA; CORRELATION ANALYSIS; DNA EXTRACTION; DNA SEQUENCE; GENE FREQUENCY; GENETIC ASSOCIATION; HEMOGLOBIN BLOOD LEVEL; HUMAN; LETTER; LEUKOCYTE COUNT; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; MYELOPROLIFERATIVE DISORDER; PHENOTYPE; PRIORITY JOURNAL; REFRACTORY ANEMIA; REFRACTORY ANEMIA WITH EXCESS BLASTS IN TRANSFORMATION; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; THROMBOCYTE COUNT; THROMBOCYTOSIS;

AGED; AGED, 80 AND OVER; ANEMIA, REFRACTORY; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; MYELODYSPLASTIC SYNDROMES; PLATELET COUNT; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, THROMBOPOIETIN; REGISTRIES;

EID: 41549083786     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-007-0409-0     Document Type: Letter

References (13)

1. Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, Cuker A, Wernig G, Moore S, Galinsky I, DeAngelo DJ, Clark JJ, Lee SJ, Golub TR, Wadleigh M, Gilliland DG, Levine RL (2006) MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 3(7):e270
2. Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M, Steensma DP, Elliott MA, Wolanskyj AP, Hogan WJ, McClure RF, Litzow MR, Gilliland DG, Tefferi A (2006) MPL515 mutations in myeloproliferative and other myeloid disorders: A study of 1182 patients. Blood 108:3472-3476
3. Steensma DP, Dewald GW, Lasho TL, Powell HL, McClure RF, Levine RL, Gilliland DG, Tefferi A (2005) The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and the myelodysplastic syndrome. Blood 106:1207-1209
4. Ingram W, Lea NC, Cervera J, Germing U, Fenaux P, Cassinat B, Kiladjian JJ, Varkonyi J, Antunovic P, Westwood NB, Arno MJ, Mohamedali A, Gaken J, Kontou T, Czepulkowski BH, Twine NA, Tamaska J, Csomer J, Benedek S, Gattermann N, Zipperer E, Giagounidis A, Garcia-Casado Z, Sanz G, Mufti GJ (2006) The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow. Leukemia 20:1319-1321
5. Remacha AF, Nomdedeu JF, Puget G, Estivill C, Sarda MP, Canals C, Aventin A (2006) Occurrence of the JAK2 V617F mutation in the WHO provisional entity: Myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica 91:719-720
6. Szpurka H, Tiu R, Murugesan G, Aboudola S, Hsi ED, Theil KS, Sekeres MA, Maciejewski JP (2006) Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood 108:2173-2181
7. Wang SA, Hasserjian RP, Loew JM, Sechman EV, Jones D, Hao S, Liu Q, Zhao W, Mehdi M, Galili N, Woda B, Raza A (2006) Refractory anemia with ringed sideroblasts associated with marked thrombocytosis harbors JAK2 mutation and shows overlapping myeloproliferative and myelodysplastic features. Leukemia 20:1641-1644
8. Ceesay MM, Lea NC, Ingram W, Westwood NB, Gäken J, Mohamedali A, Cervera J, Germing U, Gattermann N, Giagounidis A, Garcia-Casado Z, Sanz G, Mufti GJ (2006) The JAK2 V617F mutation is rare in RARS but common in RARS-T. Leukemia 20:2060-2061
9. Steensma DP, Caudill JS, Pardanani A, McClure RF, Lasho TL, Tefferi A (2006) MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count. Haematologica 91(Suppl 12):ECR57, Dec
10. Gattermann N, Billiet J, Kronenwett R, Zipperer E, Germing U, Nollet F, Criel A, Selleslag D (2007) High frequency of the JAK2 V617F mutation in patients with thrombocytosis (platelet count>600 × 109/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable. Blood 109:1334-1335
11. Shaw GR (2005) Ringed sideroblasts with thrombocytosis: An uncommon mixed myelodysplastic/myeloproliferative disease of older adults. Br J Haematol 131:180-184
12. Olsen RJ, Tang Z, Farkas DH, Bernard DW, Zu Y, Chang CC (2006) Detection of the JAK2(V617F) mutation in myeloproliferative disorders by melting curve analysis using the LightCycler system. Arch Pathol Lab Med 130:997-1003
13. Gattermann N (2000) From siderblasic anemia to the rolr of mitochondrial DNA mutations in myelodysplastic syndromes. Leuk Res 24:141-151