Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

Nature Genetics

Volumn 45, Issue 8, 2013, Pages 937-941

  Sakaguchi, Hirotoshi ^a   Okuno, Yusuke ^b   Muramatsu, Hideki ^a   Yoshida, Kenichi ^b   Shiraishi, Yuichi ^c   Takahashi, Mariko ^b   Kon, Ayana ^b   Sanada, Masashi ^b,d   Chiba, Kenichi ^c   Tanaka, Hiroko ^c   Makishima, Hideki ^e   Wang, Xinan ^a   Xu, Yinyan ^a   Doisaki, Sayoko ^a   Hama, Asahito ^a   Nakanishi, Koji ^a   Takahashi, Yoshiyuki ^a   Yoshida, Nao ^f   Maciejewski, Jaroslaw P ^e   Miyano, Satoru ^c   Ogawa, Seishi ^b,d   Kojima, Seiji ^a   more..

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c THE UNIVERSITY OF TOKYO   (Japan)

^d KYOTO UNIVERSITY   (Japan)

^e TAUSSIG CANCER INSTITUTE   (United States)

^f JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 3; NUCLEAR PROTEIN; RAS PROTEIN; SETBP1 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; EXOME; FEMALE; GENE SEQUENCE; GENE TARGETING; HUMAN; JUVENILE MYELOMONOCYTIC LEUKEMIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; OUTCOME ASSESSMENT; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIGNAL TRANSDUCTION; SOMATIC MUTATION;

CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; EXOME; FEMALE; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; JANUS KINASE 3; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; MALE; MUTATION; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS P21(RAS); SIGNAL TRANSDUCTION;

EID: 84881020319     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2698     Document Type: Article

References (40)

1. Pinkel, D. et al. Differentiating juvenile myelomonocytic leukemia from infectious disease. Blood 91, 365-367 (1998).
2. Loh, M.L. et al. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood 114, 1859-1863 (2009).
3. Muramatsu, H. et al. Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. Blood 115, 1969-1975 (2010).
4. Pérez, B. 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. 151, 460-468 (2010).
5. Ng, S.B. et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42, 790-793 (2010).
6. Minakuchi, M. et al. Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. Eur. J. Biochem. 268, 1340-1351 (2001).
7. Damm, F. et al. SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias. Leukemia 27, 401-403 (2013).
8. Laborde, R.R. et al. SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML. Leukemia published online; doi:10.1038/leu.2013.97 (5 April 2013).
9. Meggendorfer, M. et al. SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. Leukemia published online; doi:10.1038/leu.2013.133 (30 April 2013).
10. Piazza, R. et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat. Genet. 45, 18-24 (2013).
11. Thol, F. et al. SETBP1 mutation analysis in 944 patients with MDS and AML. Leukemia published online; doi:10.1038/leu.2013.145 (7 May 2013).
12. Panagopoulos, I. et al. Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12). Br. J. Haematol. 136, 294-296 (2007).
13. Cristóbal, I. et al. SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia. Blood 115, 615-625 (2010).
14. Goyama, S. et al. Evi-1 is a critical regulator for hematopoietic stem cells and transformed leukemic cells. Cell Stem Cell 3, 207-220 (2008).
15. Ott, M.G. et al. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat. Med. 12, 401-409 (2006).
16. Hoischen, A. et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat. Genet. 42, 483-485 (2010).
17. Yoshida, K. et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478, 64-69 (2011).
18. Flotho, C. et al. Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. Oncogene 26, 5816-5821 (2007).
19. Walters, D.K. et al. Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell 10, 65-75 (2006).
20. Sato, T. et al. Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. Br. J. Haematol. 141, 681-688 (2008).
21. De Vita, S. et al. Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome. Br. J. Haematol. 137, 337-341 (2007).
22. Norton, A. et al. Analysis of JAK3, JAK2, and C-MPL mutations in transient myeloproliferative disorder and myeloid leukemia of Down syndrome blasts in children with Down syndrome. Blood 110, 1077-1079 (2007).
23. Kiyoi, H., Yamaji, S., Kojima, S. & Naoe, T. JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults. Leukemia 21, 574-576 (2007).
24. Elliott, N.E. et al. FERM domain mutations induce gain of function in JAK3 in adult T-cell leukemia/lymphoma. Blood 118, 3911-3921 (2011).
25. Zhang, J. et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 481, 157-163 (2012).
26. Koo, G.C. et al. Janus kinase 3-activating mutations identified in natural killer/T-cell Lymphoma. Cancer Discov. 2, 591-597 (2012).
27. Zhang, J. et al. A novel retinoblastoma therapy from genomic and epigenetic analyses. Nature 481, 329-334 (2012).
28. Makishima, H. et al. Somatic SETBP1 mutations in myeloid malignancies. Nat. Genet. published online; doi:10.1038/ng.2696 (7 July 2013).
29. Crozatier, M. & Meister, M. Drosophila haematopoiesis. Cell. Microbiol. 9, 1117-1126 (2007).
30. Changelian, P.S. et al. Prevention of organ allograft rejection by a specific Janus kinase 3 inhibitor. Science 302, 875-878 (2003).
31. Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
32. Matthews, L. et al. Reactome knowledgebase of human biological pathways and processes. Nucleic Acids Res. 37, D619-D622 (2009).
33. Thorvaldsdóttir, H., Robinson, J.T. & Mesirov, J.P. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief. Bioinform. 14, 178-192 (2013).
34. Kent, W.J. BLAT - the BLAST-like alignment tool. Genome Res. 12, 656-664 (2002).
35. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
36. Wang, K., Li, M. & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010).
37. Kumar, P., Henikoff, S. & Ng, P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4, 1073-1081 (2009).
38. Adzhubei, I.A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010).
39. Schwarz, J.M., Rödelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575-576 (2010).
40. Huang, X. & Madan, A. CAP3: A DNA sequence assembly program. Genome Res. 9, 868-877 (1999).