SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype

Haematologica

Volumn 98, Issue 9, 2013, Pages

  Visconte, Valeria ^a   Tabarroki, Ali ^a   Rogers, Heesun J ^b   Hasrouni, Edy ^a   Traina, Fabiola ^c   Makishima, Hideki ^a   Hamilton, Betty K ^a   Liu, Yang ^a   O'Keefe, Christine ^a   Lichtin, Alan ^a   Horwitz, Leonard ^a   Sekeres, Mikkael A ^a   Hsieh, Fred H ^b   Tiu, Ramon V ^a  

^a TAUSSIG CANCER INSTITUTE   (United States)

^b LERNER RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

BMFS; MCD; MDS; Mutations; SF3B1

Indexed keywords

PEPTIDES AND PROTEINS; PREDNISONE; SF3B1 PROTEIN; SRSF2 PROTEIN; U2AF1 PROTEIN; UNCLASSIFIED DRUG; ZRSR2 PROTEIN;

ADULT; AGED; APLASTIC ANEMIA; BONE MARROW DEPRESSION; CASE REPORT; CONTROLLED STUDY; FEMALE; FLOW CYTOMETRY; GENE MUTATION; GENE SEQUENCE; HEMATOLOGIC DISEASE; HUMAN; HUMAN CELL; HYPERPLASIA; LARGE GRANULAR LYMPHOCYTE LEUKEMIA; LETTER; MALE; MAST CELL DISEASE; MYELODYSPLASTIC SYNDROME; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PHENOTYPE; PURE RED CELL ANEMIA; SKIN BIOPSY; SPLICEOSOME; SYSTEMIC MASTOCYTOSIS; URTICARIA PIGMENTOSA;

BMFS; MCD; MDS; MUTATIONS; SF3B1;

ADULT; AGED; ANEMIA, SIDEROBLASTIC; FEMALE; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; MALE; MASTOCYTOSIS; MUTATION; MYELODYSPLASTIC SYNDROMES; PHENOTYPE; PHOSPHOPROTEINS; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR;

EID: 84883637783     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2013.090506     Document Type: Letter

References (15)

1. Risitano AM, Maciejewski JP, Green S, Plasilova M, Zeng W, Young NS. In vivo dominant immune responses in aplastic anaemia: molecular tracking of putatively pathogenetic T-cell clones by TCR beta-CDR3 sequencing. Lancet. 2004;364(9431):355-4.
2. Sloand EM, Melenhorst JJ, Tucker ZC, Pfannes L, Brenchley JM, Yong A, et al. T-cell immune responses to Wilms tumor 1 protein in myelodysplasia responsive to immunosuppressive therapy. Blood. 2011;117(9):2691-9.
3. Boissan M, Feger F, Guillosson JJ, Arock M. c-Kit and c-kit mutations in mastocytosis and other hematological diseases. J Leukoc Biol. 2000;67(2):135-8.
4. Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365(15):1384-5.
5. 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.
6. 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.
7. Graubert TA, Shen D, Ding L, Okeyo-Owuor T, Lunn CL, Shao J, et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet. 2012;44(1):53-7.
8. Thol F, Kade S, Schlarmann C, Loffeld P, Morgan M, Krauter J, et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood. 2012;119(15):3578-4.
9. Visconte V, Rogers HJ, Singh J, Barnard J, Bupathi M, Traina F, et al. SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes. Blood. 2012;120(16):3173-8.
10. Makishima H, Visconte V, Sakaguchi H, Jankowska AM, Abu Kar S, Jerez A, et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood. 2012;119(14):3203-10.
11. Bonnal S, Vigevani L, Valcarcel J. The spliceosome as a target of novel antitumour drugs. Nat Rev Drug Discov. 2012;11(11):847-9.
12. Visconte V, Makishima H, Maciejewski JP, Tiu RV. Emerging roles of the spliceosomal machinery in myelodysplastic syndromes and other hematological disorders. Leukemia. 2012;26(12):2447-4.
13. Traina F, Visconte V, Jankowska AM, Makishima H, O'Keefe CL, Elson P, et al. Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis. PLoS One. 2012;7(8):e43090.
14. O'Keefe CL, Sugimori C, Afable M, Clemente M, Shain K, Araten DJ, et al. Deletions of Xp22.2 including PIG-A locus lead to paroxysmal nocturnal hemoglobinuria. Leukemia. 2011;25(2):379-82.
15. Sugimori C, Padron E, Caceres G, Shain K, Sokol L, Zhang L, et al. Paroxysmal nocturnal hemoglobinuria and concurrent JAK2(V617F) mutation. Blood Cancer J. 2012;2(3):e63.