High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms

Haematologica

Volumn 98, Issue 2, 2013, Pages

  Jeromin, Sabine ^a   Haferlach, Torsten ^a   Grossmann, Vera ^a   Alpermann, Tamara ^a   Kowarsch, Andreas ^a   Haferlach, Claudia ^a   Kern, Wolfgang ^a   Schnittger, Susanne ^a  

^a MLL MUNICH LEUKEMIA LABORATORY   (Germany)

Author keywords

JAK2; Mutations; Refractory anemia with ringed sideroblasts; SF3B1

Indexed keywords

JANUS KINASE 2; SMALL NUCLEAR RIBONUCLEOPROTEIN; SPLICING FACTOR 3B; UNCLASSIFIED DRUG; PHOSPHOPROTEIN; SF3B1 PROTEIN, HUMAN;

ADULT; AGED; CHROMOSOME ABERRATION; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; LETTER; MALE; MIXED MYELODYSPLASTIC MYELOPROLIFERATIVE DISEASE; MUTATION RATE; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; THROMBOCYTE COUNT; THROMBOCYTOSIS; COMPLICATION; GENETICS; MUTATION; MYELODYSPLASTIC-MYELOPROLIFERATIVE DISEASES; PATHOLOGY; REFRACTORY ANEMIA;

ANEMIA, REFRACTORY; HUMANS; JANUS KINASE 2; MUTATION; MYELODYSPLASTIC-MYELOPROLIFERATIVE DISEASES; PHOSPHOPROTEINS; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; THROMBOCYTOSIS;

EID: 84875283054     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.072538     Document Type: Letter

References (15)

1. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64-9.
2. Malcovati L, Papaemmanuil E, Bowen DT, Boultwood J, la Porta MG, Pascutto C, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood. 2011;118(24):6239-46.
3. Damm F, Thol F, Kosmider O, Kade S, Loffeld P, Dreyfus F, et al. SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications. Leukemia. 2012;26(5):1137-40.
4. Visconte V, Makishima H, Jankowska A, Szpurka H, Traina F, Jerez A, et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia. 2012;26(3):542-5.
5. Damm F, Kosmider O, Gelsi-Boyer V, Renneville A, Carbuccia N, Hidalgo-Curtis C, et al. Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes. Blood. 2012;119(14):3211-8.
6. Makishima H, Visconte V, Sakaguchi H, Jankowska AM, Abu KS, Jerez A, et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood. 2012;119(14):3203-10.
7. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th ed. Lyon: International Agency for Research on Cancer (IARC), 2008.
8. Wardrop D, Steensma DP. Is refractory anaemia with ring sider oblasts and thrombocytosis (RARS-T) a necessary or useful diagnostic category? Br J Haematol. 2009;144(6):809-17.
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;20:2195-7.
10. Schnittger S, Bacher U, Haferlach C, Geer T, Muller P, Mittermuller J, et al. Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera. Haematologica. 2009;94: 414-8.
11. Schnittger S, Bacher U, Haferlach C, Dengler R, Krober A, Kern W, et al. Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis. Leukemia. 2008;22:453-5.
12. Broseus J, Florensa L, Zipperer E, Schnittger S, Malcovati L, Richebourg S, et al. Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis. Haematologica. 2012;97(7):1036-41.
13. Brecqueville M, Rey J, Bertucci F, Coppin E, Finetti P, Carbuccia N, et al. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms. Genes Chromosomes Cancer. 2012;51(8):743-55.
14. Steensma DP, 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 (4):1207-9.
15. Malcovati L, la Porta MG, Pietra D, Boveri E, Pellagatti A, Galli A, et al. Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Blood. 2009;114(17):3538-45.