|
1) Niemeyer CM, Fenu S, Hasle H, et al. Differentiating juvenile myelomonocytic leukemia from infectious disease. Blood. 1998; 91: 365-7
|
|
|
|
2) 真部 淳. 小児骨髄異形成症候群 (MDS): 最新の知見. 日本小児血液学会雑誌. 2007; 21: 141
|
|
|
|
|
3) Stiller CA, Chessells JM, Fitchett M. Neurofibromatosis and childhood leukemia/lymphoma: a population-based UKCCSG study. Br J Cancer. 1994; 70: 969-72
|
|
|
|
|
|
4) Niemeyer CM, Locatelli F. In: Pui CH, editor. Childhood Leukemia. New York: Cambridge University Press; 2006. p. 571-98
|
|
|
|
|
|
5) Largaespada DA, Brannan CI, Jenkins NA, et al. Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. Nat Genet. 1996; 12: 137-43
|
|
|
|
|
6) Le DT, Kong N, Zhu Y, et al. Somatic inactivation of Nf1 in hematopoietic cells results in a progressive myeloproliferative disorder. Blood. 2004; 103: 4243-50
|
|
|
|
|
|
7) Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000; 15: 541-55
|
|
|
|
|
|
8) Stephens K, Weaver M, Leppig KA, et al. Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies. Blood. 2006; 108: 1684-9
|
|
|
|
|
|
9) Flotho C, Steinemann D, Mullighan CG, 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. 2007; 26: 5816-21
|
|
|
|
|
|
10) Side LE, Emanuel PD, Taylor B, et al. Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. Blood. 1998; 92: 267-72
|
|
|
|
|
|
11) Kalra R, Paderanga DC, Olson K, et al. Genetic analysis is consistent with the hypothesis that NF1 limits myeloid cell growth through p21ras. Blood. 1994; 84: 3435-9
|
|
|
|
|
|
12) Flotho C, Valcamonica S, Mach-Pascual S, et al. RAS mutations and clonality analysis in children with juvenile myelomonocytic leukemia (JMML). Leukemia. 1999; 13: 32-7
|
|
|
|
|
|
13) Sheng XM, Kawamura M, Ohnishi H, et al. Mutations of the RAS genes in childhood acute myeloid leukemia, myelodysplastic syndrome and juvenile chronic myelocytic leukemia. Leuk Res. 1997; 21: 697-701
|
|
|
|
|
|
14) Chen Y, Takita J, Hiwatari M, et al. Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. Genes Chromosomes Cancer. 2006; 45: 583-91
|
|
|
|
|
|
15) Matsuda K, Shimada A, Yoshida N, et al. Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. Blood. 2007; 109: 5477-80
|
|
|
|
|
|
16) Braun BS, Tuveson DA, Kong N, et al. Somatic activation of oncogenic Kras in hematopoietic cells initiates a rapidly fatal myeloproliferative disorder. Proc Natl Acad Sci U S A. 2004; 101: 597-602
|
|
|
|
|
|
17) Flotho C, Kratz CP, Bergstrasser E, et al. Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations. Blood. 2008; 111: 966-7
|
|
|
|
|
|
18) Matsuda K, Nakazawa Y, Sakashita K, et al. Acquisition of loss of the wild-type NRAS locus with aggressive disease progression in a patient with juvenile myelomonocytic leukemia and a heterozygous NRAS mutation. Haematologica. 2007; 92: 1576-8
|
|
|
|
|
|
19) Bader-Meunier B, Tchernia G, Mielot F, et al. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr. 1997; 130: 885-9
|
|
|
|
|
|
20) Tartaglia M, Niemeyer CM, Fragale A, et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet. 2003; 34: 148-50
|
|
|
|
|
|
21) Loh ML, Vattikuti S, Schubbert S, et al. Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. Blood. 1004; 103: 2325-31
|
|
|
|
|
|
22) Kratz CP, Niemeyer CM, Castleberry RP, et al. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood. 2005; 106: 2183-5
|
|
|
|
|
|
23) Mohi MG, Williams IR, Dearolf CR, et al. Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations. Cancer Cell. 2005; 7: 179-91
|
|
|
|
|
|
24) Chan RJ, Feng GS. PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase. Blood. 2007; 109: 862-7
|
|
|
|
|
|
25) Roberts AE, Araki T, Swanson KD, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007; 39: 70-4
|
|
|
|
|
|
26) Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007; 39: 75-9
|
|
|
|
|
|
27) Kratz CP, Niemeyer CM, Thomas C, et al. Mutation analysis of Son of sevenless in juvenile myelomonocytic leukemia. Leukemia. 2007; 21: 1108-9
|
|
|
|
|
|
28) Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature. 2002; 417: 949-54
|
|
|
|
|
|
29) Rodriguez-Viciana P, Tetsu O, Tidyman WE, et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006; 311: 1287-90
|
|
|
|
|
|
30) de Vries AC, Stam RW, Kratz CP, et al. Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemia. Haematologica. 2007; 92: 1574-5
|
|
|
|
|
|
31) Koike K, Matsuda K. Recent advances in the pathogenesis and management of juvenile myelomonocytic leukemia. Br J Haematol. 2008; 141: 567-75
|
|
|
|
|
|
32) Archambeault S, Flores NJ, Yoshimi A, et al. Development of an allele-specific minimal residual disease assay for patients with juvenile myelomonocytic leukemia. Blood. 2008; 111: 1124-7
|
|
|
|
|