Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders

New England Journal of Medicine

Volumn 336, Issue 24, 1997, Pages 1713-1720

  Side, Lucy ^a   Taylor, Brigit ^a   Cayouette, Matthew ^b   Conner, Edward ^a   Thompson, Patricia ^a   Luce, Michael ^b   Shannon, Kevin ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Roche Biomedical Laboratories   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMIN;

ALLELE; ARTICLE; BONE MARROW CELL; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE ACTIVITY; HOMOZYGOSITY; HUMAN; INFANT; MALE; NEUROFIBROMATOSIS; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

BONE MARROW; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HOMOZYGOTE; HUMANS; INFANT; LEUKEMIA, MYELOID; MALE; MUTATION; MYELODYSPLASTIC SYNDROMES; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PROTEINS;

EID: 0030947237     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199706123362404     Document Type: Article

References (53)

1. Riccardi VM, Eichner JE. Neurofibromatosis: phenotype, natural history, and pathogenesis. Baltimore: Johns Hopkins University Press, 1986.
2. Castro-Malaspina H, Schaison G, Passe S, et al. Subacute and chronic myelomonocytic leukemia in children (juvenile CML): clinical and hematologic observations, and identification of prognostic factors. Cancer 1984; 54:675-86.
3. Passmore SJ, Hann IM, Stiller CA, et al. Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system. Blood 1995;85: 1742-50.
4. Shannon KM, Watterson J, Johnson P, et al. Monosomy 7 myeloproliferative disease in children with neurofibromatosis, type 1: epidemiology and molecular analysis. Blood 1992;79:1311-8.
5. Stiller CA, Chessells JM, Fitchett M. Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCCSG study. Br J Cancer 1994;70:969-72.
6. Emanuel PD, Shannon KM, Castleberry RP. Juvenile myelomonocytic leukemia: molecular understanding and prospects for therapy. Mol Med Today 1996;2:468-75.
7. Gadner H, Haas OA. Experience in pediatric myclodysplastic syndromes. Hematol Oncol Clin North Am 1992;6:655-72.
8. Bourne HR, Sanders DA, McCormick F. The GTPase superfamily: a conserved switch for diverse cell functions. Nature 1990;348:125-32.
9. Hall A. The cellular functions of small GTP-binding proteins. Science 1990;249:635-40.
10. Ballester R, Marchuk D, Boguski M, et al. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 1990;63:851-9.
11. Xu GF, O'Connell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990;62:599-608.
12. Boguski M, McCormick F. Proteins regulating Ras and its relatives. Nature 1993;366:643-54.
13. Bos JL. ras Oncogenes in human cancer: a review. Cancer Res 1989; 49:4682-9. [Erratum, Cancer Res 1990;50:1352.]
14. Bos JL. ras Oncogenes in human cancer: a review. Cancer Res 1989; 49:4682-9. [Erratum, Cancer Res 1990;50:1352.]
15. Rodenhuis S. ras And human tumors, Semin Cancer Biol 1992;3:241-7.
16. Weinberg RA. Tumor suppressor genes. Science 1991;254:1138-46.
17. Skuse GR, Kosciolek BA, Rowley PT. Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: loss of heterozygosity for chromosome 17. Genes Chromosomes Cancer 1989;1:36-41.
18. Glover TW, Stein CK, Legius E, Andersen LB, Brereton A, Johnson S. Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis. Genes Chromosomes Cancer 1991;3:62-70.
19. Menon AG, Anderson KM, Riccardi VM, et al. Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc Natl Acad Sci U S A 1990;87:5435-9.
20. Xu W, Mulligan L, Ponder MA, et al. Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis. Genes Chromosomes Cancer 1992;4:337-42.
21. Colman SD, Williams CA, Wallace MR. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nat Genet 1995;11:90-2.
22. Shannon KM, O'Connell P, Martin GA, et al. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 1994;330:597-601.
23. Miles DK, Freedman MH, Stephens K, et al. Patterns of hematopoietic lineage involvement in children with neurofibromatosis type 1 and malignant myeloid disorders, Blood 1996;88:4314-20.
24. Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 1993;3:122-6.
25. Sawada S, Florell S, Purandare S, Ota M, Stephens K, Viskochil D. Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat Genet 1996;14:110-2.
26. Li Y, O'Connell P, Breidenbach HH, et al. Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 1995;25:9-18.
27. Upadhyaya M, Shaw DJ, Harper PS. Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene. Hum Mutat 1994;4:83-101.
28. Heim RA, Silverman LM, Farber RA, Kam-Morgan LN, Luce MC. Screening for truncated NF1 proteins. Nat Genet 1994;8:218-9.
29. Heim RA, Kam-Morgan LN, Binnie CG, et al. Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 1995;4:975-81.
30. Powell SM, Petersen GM, Krush AJ, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993;329:1982-7.
31. FitzGerald MG, MacDonald DJ, Krainer M, et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 1996;334:143-9.
32. Maris JM, Wiersma SR, Mahgoub N, et al. Monosomy 7 myelodysplastic syndrome and other second malignant neoplasms in children with neurofibromatosis type 1. Cancer 1997;79:1438-46.
33. Jensen S, Paderanga DC, Chen P, et al. Molecular analysis at the NF1 locus in astrocytic brain tumors. Cancer 1995;76:674-7.
34. ras. Blood 1994;84:3435-9.
35. Binnie CG, Kam-Morgan LNW, Cayouette MC, Marra G, Boland CR, Luce MC. Rapid identification of RT-PCR clones containing translation-terminating mutations. Mutat Res 1997;388:21-6.
36. Purandare SM, Huntsman Breidenbach H, Li Y, et al. Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. Genomics 1995;30:476-85.
37. Andersen LB, Ballester R, Marchuk DA, et al. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Mol Cell Biol 1993;13:487-95.
38. Bollag G, Clapp DW, Shih S, et al. Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. Nat Genet 1996;12:144-8.
39. Basu TN, Gutmann DH, Fletcher JA, Glover TW, Collins FS, Downward J. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 1992;356:713-5.
40. rascontributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell 1992;69:265-73.
41. The I, Murthy AE, Hannigan GE, et al. Neurofibromatosis type 1 gene mutations in neuroblastoma. Nat Genet 1993;3:62-6.
42. Johnson MR, Look AT, DeClue JE, Valentine MB, Lowy DR. Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras. Proc Natl Acad Sci U S A 1993; 90:5539-43.
43. Sakai T, Ohtani N, McGee T, Robbins PD, Dryja TP. Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature 1991;353:83-6.
44. Dryja TP, Rapaport J, McGee TL, Nork TM, Schwartz TL. Molecular etiology of low-penetrance retinoblastoma in two pedigrees. Am J Hum Genet 1993;52:1122-8.
45. Chen F, Kishida T, Yao M, et al. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat 1995;5:66-75.
46. Crossey PA, Richards FM, Foster K, et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet 1994;3:1303-8.
47. Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet 1993;53:305-13.
48. Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet 1994;7:353-61.
49. Brannan CI, Perkins AS, Vogel KS, et al. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 1994;8:1019-29. [Erratum, Genes Dev 1994;8:2792.]
50. Brannan CI, Perkins AS, Vogel KS, et al. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 1994;8:1019-29. [Erratum, Genes Dev 1994;8:2792.]
51. Largaespada DA, Brannan CI, Jenkins NA, Copeland NG. Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. Nat Genet 1996;12: 137-43.
52. Gibbs JB, Oliff A, Kohl NE. Farnesyltransferase inhibitors: Ras research yields a potential cancer therapeutic. Cell 1994;77:175-8.
53. Kohl NE, Omer CA, Conner MW, et al. Inhibition of farnesyltransferase induces regression of mammary and salivary carcinomas in ras transgenic mice. Nat Med 1995;1:792-7.