Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis [14]

Leukemia

Volumn 22, Issue 2, 2008, Pages 453-455

  Schnittger, S ^a   Bacher, U ^b   Haferlach, C ^a   Dengler, R ^c   Krober A ^c   Kern, W ^a   Haferlach, T ^a  

^a MLL MUNICH LEUKEMIA LABORATORY   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c Hämatologisch Onkologische Praxis   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; BONE MARROW BIOPSY; CASE REPORT; CYTOGENETICS; HUMAN; LETTER; MALE; MUTATIONAL ANALYSIS; MYELOPROLIFERATIVE DISORDER; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; SOMATIC MUTATION; THROMBOCYTHEMIA; THROMBOCYTOSIS;

EID: 39449087660     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/sj.leu.2404909     Document Type: Letter

References (9)

1. Szpurka H, Tiu R, Murugesan G, Aboudola S, Hsi ED, Theil KS 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.
2. Boissi not M, Garand R, Hamidou M, Hermouet S. The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). Blood 2006; 108: 1781-1782.
3. Ceesay MM, Lea NC, Ingram W, Wéstwood NB, Gaken J, Mohamedali A et al. The JAK2 V617F mutation is rare in RARS but common in RARS-T. Leukemia 2006; 20: 2060-2061.
4. 9/I) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable. Blood 2007, 109: 1334-1335.
5. Shaw GR. Ringed sideroblasts with thrombocytesis: An uncommon mixed myelzplastic/myeloproliferative disease of older adults. Br J Haematol 2005; 131: 180-184.
6. Steensma DIP, Dewald GW, Lasho TL, Powell HL, McClure RF, Levine RL 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.
7. Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M et al MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006; 108; 3472-3476.
8. Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006; 3: E270.
9. Schnittger S, Bacher U, Kern W, Schroder M, Haferlach T, Schoch C. Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E. Leukemia 2006; 20: 2195-2197.