Novel splicing-factor mutations in juvenile myelomonocytic leukemia

Leukemia

Volumn 26, Issue 8, 2012, Pages 1879-1881

  Takita, J ^a   Yoshida, K ^a   Sanada, M ^a   Nishimura, R ^a   Okubo, J ^a   Motomura, A ^a   Hiwatari, M ^a   Oki, K ^a   Igarashi, T ^a   Hayashi, Y ^b   Ogawa, S ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b Gumna Children S Medical Center   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; SF3B1 PROTEIN; SRSF2 PROTEIN; TUMOR PROTEIN; U2AF35 PROTEIN; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE MEGAKARYOCYTIC LEUKEMIA; BONE MARROW BIOPSY; CHRONIC MYELOID LEUKEMIA; CYTOPENIA; EXON; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GERM LINE GENE THERAPY; HUMAN; IMMUNOPATHOGENESIS; JUVENILE MYELOMONOCYTIC LEUKEMIA; LETTER; LEUKEMIA CELL LINE; MEDICAL ETHICS; MYELODYSPLASTIC SYNDROME; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; REFRACTORY ANEMIA; RNA SPLICING; SANGER SEQUENCING; SIGNAL TRANSDUCTION; SOMATIC MUTATION; SPLICEOSOME;

EID: 84864885516     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2012.45     Document Type: Letter

References (15)

1. Garcia-Manero G. Myelodysplastic syndromes: 2011 update on diagnosis, riskstratification, and management. Am J Hematol 2011; 86: 490-498.
2. Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse A et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009; 360: 2289-2301.
3. Thol F, Friesen I, Damm F, Yun H, Weissinger EM, Krauter J et al. Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes. J Clin Oncol 2011; 29: 2499-2506.
4. Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010; 363: 2424-2433.
5. Nikoloski G, Langemeijer SM, Kuiper RP, Knops R, Massop M, Tonnissen ER et al. Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nature Genet 2010; 42: 665-667.
6. Green A, Beer P. Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N Engl J Med 2010; 362: 369-370.
7. Sanada M, Suzuki T, Shih LY, Otsu M, Kato M, Yamazaki S et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature 2009; 460: 904-908.
8. Perez B, Kosmider O, Cassinat B, Renneville A, Lachenaud J, Kaltenbach S et al. Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia. Br J Haematol 2010; 151: 460-468.
9. Oki K, Takita J, Hiwatari M, Nishimura R, Sanada M, Okubo J et al. IDH1 and IDH2 mutations are rare in pediatric myeloid malignancies. Leukemia 2011; 25: 382-384.
10. 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: 64-69.
11. Chen Y, Takita J, Hiwatari M, Igarashi T, Hanada R, Kikuchi A et al. Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. Genes Chromosomes Cancer 2006; 45: 583-591.
12. Shiba N, Kato M, Park MJ, Sanada M, Ito E, Fukushima K et al. CBL mutations in juvenile myelomonocytic leukemia and pediatric myelodysplastic syndrome. Leukemia 2010; 24: 1090-1092.
13. Zhang M, Zamore PD, Carmo-Fonseca M, Lamond AI, Green MR. Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit. Proc Natl Acad Sci USA 1992; 89: 8769-8773.
14. Edmond V, Brambilla C, Brambilla E, Gazzeri S, Eymin B. SRSF2 is required for sodium butyrate-mediated p21(WAF1) induction and premature senescence in human lung carcinoma cell lines. Cell Cycle 2011; 10: 1968-1977.
15. Emanuel PD. Juvenile myelomonocytic leukemia and chronic myelomonocytic leukemia. Leukemia 2008; 22: 1335-1342.