메뉴 건너뛰기




Volumn 47, Issue 11, 2015, Pages 1326-1333

The genomic landscape of juvenile myelomonocytic leukemia

(47)  Stieglitz, Elliot a   Taylor Weiner, Amaro N b   Chang, Tiffany Y a   Gelston, Laura C a   Wang, Yong Dong c   Mazor, Tali d   Esquivel, Emilio a   Yu, Ariel a   Seepo, Sara b   Olsen, Scott R c   Rosenberg, Mara b   Archambeault, Sophie L a   Abusin, Ghada e   Beckman, Kyle a   Brown, Patrick A f   Briones, Michael g   Carcamo, Benjamin h   Cooper, Todd i   Dahl, Gary V j   Emanuel, Peter D k   more..


Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE; POLYCOMB REPRESSIVE COMPLEX 2; RAS PROTEIN; STAT PROTEIN; TRANSFORMING GROWTH FACTOR BETA; WISKOTT ALDRICH SYNDROME PROTEIN;

EID: 84945452936     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3400     Document Type: Article
Times cited : (221)

References (78)
  • 1
    • 84908147740 scopus 로고    scopus 로고
    • Bedside to bench in juvenile myelomonocytic leukemia: Insights into leukemogenesis from a rare pediatric leukemia
    • Chang, T.Y., Dvorak, C.C., & Loh, M.L. Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia. Blood 124, 2487-2497 (2014).
    • (2014) Blood , vol.124 , pp. 2487-2497
    • Chang, T.Y.1    Dvorak, C.C.2    Loh, M.L.3
  • 2
    • 84906076393 scopus 로고    scopus 로고
    • Juvenile myelomonocytic leukemia: Molecular pathogenesis informs current approaches to therapy and hematopoietic cell transplantation
    • Dvorak, C.C., & Loh, M.L. Juvenile myelomonocytic leukemia: molecular pathogenesis informs current approaches to therapy and hematopoietic cell transplantation. Front. Pediatr. 2, 25 (2014).
    • (2014) Front. Pediatr. , vol.2 , pp. 25
    • Dvorak, C.C.1    Loh, M.L.2
  • 3
    • 34250017142 scopus 로고    scopus 로고
    • Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations
    • Matsuda, K., et al. Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. Blood 109, 5477-5480 (2007).
    • (2007) Blood , vol.109 , pp. 5477-5480
    • Matsuda, K.1
  • 4
    • 77955913794 scopus 로고    scopus 로고
    • Long-Derm survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutations
    • Matsuda, K., et al. Long-Derm survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutations. Blood 115, 5429-5431 (2010).
    • (2010) Blood , vol.115 , pp. 5429-5431
    • Matsuda, K.1
  • 5
    • 77951644021 scopus 로고    scopus 로고
    • Gene expression-based classification as an independent predictor of clinical outcome in juvenile myelomonocytic leukemia
    • Bresolin, S., et al. Gene expression-based classification as an independent predictor of clinical outcome in juvenile myelomonocytic leukemia. J. Clin. Oncol. 28, 1919-1927 (2010).
    • (2010) J. Clin. Oncol. , vol.28 , pp. 1919-1927
    • Bresolin, S.1
  • 6
    • 38349111411 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations
    • author reply 967-968
    • Flotho, C., et al. Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations. Blood 111, 966-967, author reply 967-968 (2008).
    • (2008) Blood , vol.111 , pp. 966-967
    • Flotho, C.1
  • 7
    • 0030947237 scopus 로고    scopus 로고
    • Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders
    • Side, L., et al. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N. Engl. J. Med. 336, 1713-1720 (1997).
    • (1997) N. Engl. J. Med. , vol.336 , pp. 1713-1720
    • Side, L.1
  • 8
    • 0032896457 scopus 로고    scopus 로고
    • RAS mutations and clonality analysis in children with juvenile myelomonocytic leukemia (JMML)
    • Flotho, C., et al. RAS mutations and clonality analysis in children with juvenile myelomonocytic leukemia (JMML). Leukemia 13, 32-37 (1999).
    • (1999) Leukemia , vol.13 , pp. 32-37
    • Flotho, C.1
  • 9
    • 0038278866 scopus 로고    scopus 로고
    • Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
    • Tartaglia, M., et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat. Genet. 34, 148-150 (2003).
    • (2003) Nat. Genet. , vol.34 , pp. 148-150
    • Tartaglia, M.1
  • 10
    • 12144286410 scopus 로고    scopus 로고
    • Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis
    • Loh, M.L., et al. Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. Blood 103, 2325-2331 (2004).
    • (2004) Blood , vol.103 , pp. 2325-2331
    • Loh, M.L.1
  • 11
    • 70349249988 scopus 로고    scopus 로고
    • Mutations in CBL occur frequently in juvenile myelomonocytic leukemia
    • Loh, M.L., et al. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood 114, 1859-1863 (2009).
    • (2009) Blood , vol.114 , pp. 1859-1863
    • Loh, M.L.1
  • 12
    • 84881020319 scopus 로고    scopus 로고
    • Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia
    • Sakaguchi, H., et al. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. Nat. Genet. 45, 937-941 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 937-941
    • Sakaguchi, H.1
  • 13
    • 84926688835 scopus 로고    scopus 로고
    • Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia
    • Stieglitz, E., et al. Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. Blood 125, 516-524 (2015).
    • (2015) Blood , vol.125 , pp. 516-524
    • Stieglitz, E.1
  • 14
    • 84984935016 scopus 로고    scopus 로고
    • Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
    • Niemeyer, C.M., et al. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat. Genet. 42, 794-800 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 794-800
    • Niemeyer, C.M.1
  • 15
    • 33747815415 scopus 로고    scopus 로고
    • Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies
    • Stephens, K., et al. Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies. Blood 108, 1684-1689 (2006).
    • (2006) Blood , vol.108 , pp. 1684-1689
    • Stephens, K.1
  • 16
    • 84904763680 scopus 로고    scopus 로고
    • Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
    • Flex, E., et al. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum. Mol. Genet. 23, 4315-4327 (2014).
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 4315-4327
    • Flex, E.1
  • 17
    • 0033602360 scopus 로고    scopus 로고
    • TC21 and Ras share indistinguishable transforming and differentiating activities
    • Graham, S.M., et al. TC21 and Ras share indistinguishable transforming and differentiating activities. Oncogene 18, 2107-2116 (1999).
    • (1999) Oncogene , vol.18 , pp. 2107-2116
    • Graham, S.M.1
  • 18
    • 84867507362 scopus 로고    scopus 로고
    • In vivo regulation of TGF-b by R-Ras2 revealed through loss of the RasGAP protein NF1
    • Patmore, D.M., et al. In vivo regulation of TGF-b by R-Ras2 revealed through loss of the RasGAP protein NF1. Cancer Res. 72, 5317-5327 (2012).
    • (2012) Cancer Res. , vol.72 , pp. 5317-5327
    • Patmore, D.M.1
  • 19
    • 0028136688 scopus 로고
    • A human oncogene of the RAS superfamily unmasked by expression cDNA cloning
    • Chan, A.M., Miki, T., Meyers, K.A., & Aaronson, S.A. A human oncogene of the RAS superfamily unmasked by expression cDNA cloning. Proc. Natl. Acad. Sci. USA 91, 7558-7562 (1994).
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 7558-7562
    • Chan, A.M.1    Miki, T.2    Meyers, K.A.3    Aaronson, S.A.4
  • 20
    • 84923301480 scopus 로고    scopus 로고
    • How i treat juvenile myelomonocytic leukemia (JMML)
    • Locatelli, F., & Niemeyer, C.M. How I treat juvenile myelomonocytic leukemia (JMML). Blood 125, 1083-1090 (2015).
    • (2015) Blood , vol.125 , pp. 1083-1090
    • Locatelli, F.1    Niemeyer, C.M.2
  • 21
    • 0034080551 scopus 로고    scopus 로고
    • Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
    • Tinschert, S., et al. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur. J. Hum. Genet. 8, 455-459 (2000).
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 455-459
    • Tinschert, S.1
  • 22
    • 0032125716 scopus 로고    scopus 로고
    • Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1
    • Side, L.E., et al. Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. Blood 92, 267-272 (1998).
    • (1998) Blood , vol.92 , pp. 267-272
    • Side, L.E.1
  • 23
    • 52949129499 scopus 로고    scopus 로고
    • Single-cell profiling identifies aberrant STAT5 activation in myeloid malignancies with specific clinical and biologic correlates
    • Kotecha, N., et al. Single-cell profiling identifies aberrant STAT5 activation in myeloid malignancies with specific clinical and biologic correlates. Cancer Cell 14, 335-343 (2008).
    • (2008) Cancer Cell , vol.14 , pp. 335-343
    • Kotecha, N.1
  • 24
    • 0035811366 scopus 로고    scopus 로고
    • Lnk adaptor: Novel negative regulator of B cell lymphopoiesis
    • Rudd, C.E. Lnk adaptor: novel negative regulator of B cell lymphopoiesis. Sci. STKE 2001, pe1 (2001).
    • (2001) Sci. STKE , vol.2001 , pp. pe1
    • Rudd, C.E.1
  • 25
    • 77953485892 scopus 로고    scopus 로고
    • Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms
    • Oh, S.T., et al. Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood 116, 988-992 (2010).
    • (2010) Blood , vol.116 , pp. 988-992
    • Oh, S.T.1
  • 26
    • 77956670899 scopus 로고    scopus 로고
    • LNK mutations in JAK2 mutation-negative erythrocytosis
    • Lasho, T.L., Pardanani, A., & Tefferi, A. LNK mutations in JAK2 mutation-negative erythrocytosis. N. Engl. J. Med. 363, 1189-1190 (2010).
    • (2010) N. Engl. J. Med. , vol.363 , pp. 1189-1190
    • Lasho, T.L.1    Pardanani, A.2    Tefferi, A.3
  • 27
    • 80053969987 scopus 로고    scopus 로고
    • LNK can also be mutated outside PH and SH2 domains in myeloproliferative neoplasms with and without V617FJAK2 mutation
    • Hurtado, C., et al. LNK can also be mutated outside PH and SH2 domains in myeloproliferative neoplasms with and without V617FJAK2 mutation. Leuk. Res. 35, 1537-1539 (2011).
    • (2011) Leuk. Res. , vol.35 , pp. 1537-1539
    • Hurtado, C.1
  • 28
    • 84887805156 scopus 로고    scopus 로고
    • Genetic loss of SH2B3 in acute lymphoblastic leukemia
    • Perez-Garcia, A., et al. Genetic loss of SH2B3 in acute lymphoblastic leukemia. Blood 122, 2425-2432 (2013).
    • (2013) Blood , vol.122 , pp. 2425-2432
    • Perez-Garcia, A.1
  • 29
    • 80054033431 scopus 로고    scopus 로고
    • A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis
    • McMullin, M.F., Wu, C., Percy, M.J., & Tong, W. A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis. Am. J. Hematol. 86, 962-964 (2011).
    • (2011) Am. J. Hematol. , vol.86 , pp. 962-964
    • McMullin, M.F.1    Wu, C.2    Percy, M.J.3    Tong, W.4
  • 30
    • 84922213806 scopus 로고    scopus 로고
    • Recurrent ETNK1 mutations in atypical chronic myeloid leukemia
    • Gambacorti-Passerini, C.B., et al. Recurrent ETNK1 mutations in atypical chronic myeloid leukemia. Blood 125, 499-503 (2015).
    • (2015) Blood , vol.125 , pp. 499-503
    • Gambacorti-Passerini, C.B.1
  • 31
    • 68949100415 scopus 로고    scopus 로고
    • Increased c-Jun expression and reduced GATA2 expression promote aberrant monocytic differentiation induced by activating PTPN11 mutants
    • Yang, Z., et al. Increased c-Jun expression and reduced GATA2 expression promote aberrant monocytic differentiation induced by activating PTPN11 mutants. Mol. Cell. Biol. 29, 4376-4393 (2009).
    • (2009) Mol. Cell. Biol. , vol.29 , pp. 4376-4393
    • Yang, Z.1
  • 32
    • 84873530537 scopus 로고    scopus 로고
    • High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia
    • Pasquet, M., et al. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood 121, 822-829 (2013).
    • (2013) Blood , vol.121 , pp. 822-829
    • Pasquet, M.1
  • 33
    • 84863012056 scopus 로고    scopus 로고
    • Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
    • Kazenwadel, J., et al. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood 119, 1283-1291 (2012).
    • (2012) Blood , vol.119 , pp. 1283-1291
    • Kazenwadel, J.1
  • 34
    • 79961074298 scopus 로고    scopus 로고
    • Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
    • Hsu, A.P., et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 118, 2653-2655 (2011).
    • (2011) Blood , vol.118 , pp. 2653-2655
    • Hsu, A.P.1
  • 35
    • 80053383273 scopus 로고    scopus 로고
    • Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
    • Hahn, C.N., et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat. Genet. 43, 1012-1017 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 1012-1017
    • Hahn, C.N.1
  • 36
    • 80053385569 scopus 로고    scopus 로고
    • Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
    • Ostergaard, P., et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat. Genet. 43, 929-931 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 929-931
    • Ostergaard, P.1
  • 37
    • 84899671004 scopus 로고    scopus 로고
    • Mutations in GATA2 are rare in juvenile myelomonocytic leukemia
    • Stieglitz, E., et al. Mutations in GATA2 are rare in juvenile myelomonocytic leukemia. Blood 123, 1426-1427 (2014).
    • (2014) Blood , vol.123 , pp. 1426-1427
    • Stieglitz, E.1
  • 38
    • 84873569964 scopus 로고    scopus 로고
    • GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis
    • Fasan, A., et al. GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis. Leukemia 27, 482-485 (2013).
    • (2013) Leukemia , vol.27 , pp. 482-485
    • Fasan, A.1
  • 39
    • 84888219405 scopus 로고    scopus 로고
    • Clinical and biological implications of driver mutations in myelodysplastic syndromes
    • quiz 3699
    • Papaemmanuil, E., et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood 122, 3616-3627, quiz 3699 (2013).
    • (2013) Blood , vol.122 , pp. 3616-3627
    • Papaemmanuil, E.1
  • 40
    • 84908141853 scopus 로고    scopus 로고
    • Potential role of RUNX1 in the pathogenesis of juvenile myelomonocytic leukemia (JMML)
    • Bauer, D.E., Loh, M.L., Bhagat, G., Cantor, A.B., & Kung, A.L. Potential role of RUNX1 in the pathogenesis of juvenile myelomonocytic leukemia (JMML). Blood 122, 45 (2013).
    • (2013) Blood , vol.122 , pp. 45
    • Bauer, D.E.1    Loh, M.L.2    Bhagat, G.3    Cantor, A.B.4    Kung, A.L.5
  • 41
    • 2942667930 scopus 로고    scopus 로고
    • Point mutations in the RUNX1/AML1 gene: Another actor in RUNX leukemia
    • Osato, M. Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia. Oncogene 23, 4284-4296 (2004).
    • (2004) Oncogene , vol.23 , pp. 4284-4296
    • Osato, M.1
  • 42
    • 84867030056 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia
    • Sano, H., et al. Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia. Int. J. Hematol. 96, 279-283 (2012).
    • (2012) Int. J. Hematol. , vol.96 , pp. 279-283
    • Sano, H.1
  • 43
    • 84875000548 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia
    • Yoshimi, A., et al. Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia. Pediatr. Blood Cancer 60, 836-841 (2013).
    • (2013) Pediatr. Blood Cancer , vol.60 , pp. 836-841
    • Yoshimi, A.1
  • 44
    • 77951460081 scopus 로고    scopus 로고
    • X-linked thrombocytopenia (XLT) due to WAS mutations: Clinical characteristics, long-Derm outcome, and treatment options
    • Albert, M.H., et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-Derm outcome, and treatment options. Blood 115, 3231-3238 (2010).
    • (2010) Blood , vol.115 , pp. 3231-3238
    • Albert, M.H.1
  • 45
    • 78349249756 scopus 로고    scopus 로고
    • Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia
    • 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).
    • (2010) Br. J. Haematol. , vol.151 , pp. 460-468
    • Pérez, B.1
  • 46
    • 77953485589 scopus 로고    scopus 로고
    • Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations
    • Sugimoto, Y., et al. Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations. Br. J. Haematol. 150, 83-87 (2010).
    • (2010) Br. J. Haematol. , vol.150 , pp. 83-87
    • Sugimoto, Y.1
  • 47
    • 84872085802 scopus 로고    scopus 로고
    • Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia
    • Kar, S.A., et al. Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia. Haematologica 98, 107-113 (2013).
    • (2013) Haematologica , vol.98 , pp. 107-113
    • Kar, S.A.1
  • 48
    • 84862502902 scopus 로고    scopus 로고
    • Mutant DNMT3A: A marker of poor prognosis in acute myeloid leukemia
    • Ribeiro, A.F., et al. Mutant DNMT3A: a marker of poor prognosis in acute myeloid leukemia. Blood 119, 5824-5831 (2012).
    • (2012) Blood , vol.119 , pp. 5824-5831
    • Ribeiro, A.F.1
  • 49
    • 78649906060 scopus 로고    scopus 로고
    • DNMT3A mutations in acute myeloid leukemia
    • Ley, T.J., et al. DNMT3A mutations in acute myeloid leukemia. N. Engl. J. Med. 363, 2424-2433 (2010).
    • (2010) N. Engl. J. Med. , vol.363 , pp. 2424-2433
    • Ley, T.J.1
  • 50
    • 84923076125 scopus 로고    scopus 로고
    • Aberrant splicing of U12-Dype introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome
    • Madan, V., et al. Aberrant splicing of U12-Dype introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. Nat. Commun. 6, 6042 (2015).
    • (2015) Nat. Commun. , vol.6 , pp. 6042
    • Madan, V.1
  • 51
    • 84858672060 scopus 로고    scopus 로고
    • Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML
    • Hirabayashi, S., et al. Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML. Blood 119, e96-e99 (2012).
    • (2012) Blood , vol.119 , pp. e96-e99
    • Hirabayashi, S.1
  • 52
    • 84864885516 scopus 로고    scopus 로고
    • Novel splicing-factor mutations in juvenile myelomonocytic leukemia
    • Takita, J., et al. Novel splicing-factor mutations in juvenile myelomonocytic leukemia. Leukemia 26, 1879-1881 (2012).
    • (2012) Leukemia , vol.26 , pp. 1879-1881
    • Takita, J.1
  • 53
    • 80053135096 scopus 로고    scopus 로고
    • Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A
    • Jankowska, A.M., et al. Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood 118, 3932-3941 (2011).
    • (2011) Blood , vol.118 , pp. 3932-3941
    • Jankowska, A.M.1
  • 54
    • 63849095591 scopus 로고    scopus 로고
    • Intriguing response to azacitidine in a patient with juvenile myelomonocytic leukemia and monosomy 7
    • Furlan, I., et al. Intriguing response to azacitidine in a patient with juvenile myelomonocytic leukemia and monosomy 7. Blood 113, 2867-2868 (2009).
    • (2009) Blood , vol.113 , pp. 2867-2868
    • Furlan, I.1
  • 55
    • 84898545028 scopus 로고    scopus 로고
    • The R882H DNMT3A mutation associated with AML dominantly inhibits wild-Dype DNMT3A by blocking its ability to form active tetramers
    • Russler-Germain, D.A., et al. The R882H DNMT3A mutation associated with AML dominantly inhibits wild-Dype DNMT3A by blocking its ability to form active tetramers. Cancer Cell 25, 442-454 (2014).
    • (2014) Cancer Cell , vol.25 , pp. 442-454
    • Russler-Germain, D.A.1
  • 56
    • 38949143672 scopus 로고    scopus 로고
    • Development of an allele-specific minimal residual disease assay for patients with juvenile myelomonocytic leukemia
    • Archambeault, S., et al. Development of an allele-specific minimal residual disease assay for patients with juvenile myelomonocytic leukemia. Blood 111, 1124-1127 (2008).
    • (2008) Blood , vol.111 , pp. 1124-1127
    • Archambeault, S.1
  • 57
    • 84929072644 scopus 로고    scopus 로고
    • Aggressive congenital juvenile myelomonocytic leukemia associated with somatic KRAS p.G13D mutation and concurrent germline IGF1R duplication
    • Kothari, A., Hulbert, M.L., Cottrell, C.E., & Nguyen, T.T. Aggressive congenital juvenile myelomonocytic leukemia associated with somatic KRAS p.G13D mutation and concurrent germline IGF1R duplication. Leuk. Lymphoma 4 56, 1175-1178 (2015).
    • (2015) Leuk. Lymphoma , vol.456 , pp. 1175-1178
    • Kothari, A.1    Hulbert, M.L.2    Cottrell, C.E.3    Nguyen, T.T.4
  • 58
    • 84886925691 scopus 로고    scopus 로고
    • Juvenile myelomonocytic leukemia in a premature neonate mimicking neonatal sepsis
    • doi:10.1016/j.pedneo.2013.06.009 (25 October
    • Lee M.L., et al. Juvenile myelomonocytic leukemia in a premature neonate mimicking neonatal sepsis. Pediatr. Neonatol. doi:10.1016/j.pedneo.2013.06.009 25 October 2013).
    • (2013) Pediatr. Neonatol.
    • Lee, M.L.1
  • 59
    • 84856013431 scopus 로고    scopus 로고
    • Clonal evolution in cancer
    • Greaves, M., & Maley, C.C. Clonal evolution in cancer. Nature 481, 306-313 (2012).
    • (2012) Nature , vol.481 , pp. 306-313
    • Greaves, M.1    Maley, C.C.2
  • 60
    • 84873844410 scopus 로고    scopus 로고
    • Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice
    • Chang, T., et al. Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice. J. Clin. Invest. 123, 335-339 (2013).
    • (2013) J. Clin. Invest. , vol.123 , pp. 335-339
    • Chang, T.1
  • 61
    • 79953252390 scopus 로고    scopus 로고
    • A MEK inhibitor abrogates myeloproliferative disease in Kras mutant mice
    • Lyubynska, N., et al. A MEK inhibitor abrogates myeloproliferative disease in Kras mutant mice. Sci. Transl. Med. 3, 76ra27 (2011).
    • (2011) Sci. Transl. Med. , vol.3 , pp. 76ra27
    • Lyubynska, N.1
  • 62
    • 58549090093 scopus 로고    scopus 로고
    • Juvenile myelomonocytic leukemia: A report from the 2nd International JMML Symposium
    • Chan, R.J., Cooper, T., Kratz, C.P., Weiss, B., & Loh, M.L. Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium. Leuk. Res. 33, 355-362 (2009).
    • (2009) Leuk. Res. , vol.33 , pp. 355-362
    • Chan, R.J.1    Cooper, T.2    Kratz, C.P.3    Weiss, B.4    Loh, M.L.5
  • 63
    • 84923225906 scopus 로고    scopus 로고
    • Phase II/III trial of a pre-Dransplant farnesyl transferase inhibitor in juvenile myelomonocytic leukemia: A report from the Children's Oncology Group
    • Stieglitz, E., et al. Phase II/III trial of a pre-Dransplant farnesyl transferase inhibitor in juvenile myelomonocytic leukemia: a report from the Children's Oncology Group. Pediatr. Blood Cancer 62, 629-636 (2015).
    • (2015) Pediatr. Blood Cancer , vol.62 , pp. 629-636
    • Stieglitz, E.1
  • 64
    • 84874025843 scopus 로고    scopus 로고
    • Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
    • Cibulskis, K., et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat. Biotechnol. 31, 213-219 (2013).
    • (2013) Nat. Biotechnol. , vol.31 , pp. 213-219
    • Cibulskis, K.1
  • 65
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo, M.A., et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491-498 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 491-498
    • Depristo, M.A.1
  • 66
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna, A., et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
    • (2010) Genome Res. , vol.20 , pp. 1297-1303
    • McKenna, A.1
  • 67
    • 79951494668 scopus 로고    scopus 로고
    • Initial genome sequencing and analysis of multiple myeloma
    • Chapman, M.A., et al. Initial genome sequencing and analysis of multiple myeloma. Nature 471, 467-472 (2011).
    • (2011) Nature , vol.471 , pp. 467-472
    • Chapman, M.A.1
  • 68
    • 34147104969 scopus 로고    scopus 로고
    • A faster circular binary segmentation algorithm for the analysis of array CGH data
    • Venkatraman, E.S., & Olshen, A.B. A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics 23, 657-663 (2007).
    • (2007) Bioinformatics , vol.23 , pp. 657-663
    • Venkatraman, E.S.1    Olshen, A.B.2
  • 69
    • 80053189298 scopus 로고    scopus 로고
    • Predicting the functional impact of protein mutations: Application to cancer genomics
    • Reva, B., Antipin, Y., & Sander, C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 39, e118 (2011).
    • (2011) Nucleic Acids Res. , vol.39 , pp. e118
    • Reva, B.1    Antipin, Y.2    Sander, C.3
  • 70
    • 84946040120 scopus 로고    scopus 로고
    • COSMIC: Exploring the world's knowledge of somatic mutations in human cancer
    • Forbes, S.A., et al. COSMIC: exploring the world's knowledge of somatic mutations in human cancer. Nucleic Acids Res. 43, D805-D811 (2015).
    • (2015) Nucleic Acids Res. , vol.43 , pp. D805-D811
    • Forbes, S.A.1
  • 72
    • 84866894408 scopus 로고    scopus 로고
    • Comprehensive genomic characterization of squamous cell lung cancers
    • Cancer Genome Atlas Research Network.
    • Cancer Genome Atlas Research Network. Comprehensive genomic characterization of squamous cell lung cancers. Nature 489, 519-525 (2012).
    • (2012) Nature , vol.489 , pp. 519-525
  • 73
    • 84878593111 scopus 로고    scopus 로고
    • Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity
    • Dulak, A.M., et al. Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity. Nat. Genet. 45, 478-486 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 478-486
    • Dulak, A.M.1
  • 74
    • 77952123055 scopus 로고    scopus 로고
    • Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
    • Trapnell, C., et al. Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation. Nat. Biotechnol. 28, 511-515 (2010).
    • (2010) Nat. Biotechnol. , vol.28 , pp. 511-515
    • Trapnell, C.1
  • 75
    • 84872198346 scopus 로고    scopus 로고
    • Differential analysis of gene regulation at transcript resolution with RNA-seq
    • Trapnell, C., et al. Differential analysis of gene regulation at transcript resolution with RNA-seq. Nat. Biotechnol. 31, 46-53 (2013).
    • (2013) Nat. Biotechnol. , vol.31 , pp. 46-53
    • Trapnell, C.1
  • 76
    • 33845382806 scopus 로고
    • Nonparametric-estimation from incomplete observations
    • Kaplan, E.L., & Meier, P. Nonparametric-estimation from incomplete observations. J. Am. Stat. Assoc. 53, 457-481 (1958).
    • (1958) J. Am. Stat. Assoc. , vol.53 , pp. 457-481
    • Kaplan, E.L.1    Meier, P.2
  • 77
    • 0000336139 scopus 로고
    • Regression models and life-Dables
    • Cox, D.R. Regression models and life-Dables. J. R. Stat. Soc., B 34, 187-220 (1972).
    • (1972) J. R. Stat. Soc., B , vol.34 , pp. 187-220
    • Cox, D.R.1
  • 78
    • 0000120995 scopus 로고
    • A class of K-sample tests for comparing the cumulative incidence of a competing risk
    • Gray, R.J. A class of K-sample tests for comparing the cumulative incidence of a competing risk. Ann. Stat. 16, 1141-1154 (1988).
    • (1988) Ann. Stat. , vol.16 , pp. 1141-1154
    • Gray, R.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.