Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types

Familial Cancer

Volumn 6, Issue 4, 2007, Pages 463-471

  Spurlock, Gill ^a   Griffiths, Siân ^a   Uff, Jeremy ^b   Upadhyaya, Meena ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b GLOUCESTERSHIRE ROYAL HOSPITAL   (United Kingdom)

Author keywords

Germline mutation; NF1; Somatic mutations; Tumorigenesis; Tumours

Indexed keywords

GENE PRODUCT; NEUROFIBROMIN;

ADULT; ARTICLE; AUTOPSY; BENIGN TUMOR; CANCER CLASSIFICATION; CASE REPORT; DNA DETERMINATION; DNA ISOLATION; GENE DELETION; GENE INSERTION; HETEROZYGOSITY LOSS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; MALE; MALIGNANT NEOPLASTIC DISEASE; MICROSATELLITE MARKER; MULTIPLE CANCER; NEUROFIBROMATOSIS; NEUROFIBROMATOSIS 1 ONCOGENE; ONCOGENE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SOMATIC MUTATION;

ADOLESCENT; ADULT; ALLELES; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; EXONS; GENE DELETION; HUMANS; MICROSATELLITE INSTABILITY; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASMS; NEUROFIBROMIN 1; TUMOR SUPPRESSOR PROTEIN P53;

EID: 35449000544     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-007-9149-5     Document Type: Article

References (46)

1. Huson SM, Harper PS, Compston DAS (1988) Von Recklinghausen neurofibromatosis:clinical and population study in South East Wales. Brain 111: 55-81
2. Ferner RE; Gutmann DH (2002) International consensus statement on malignant peripheral nerve sheath tumors. Cancer Res 62:1573-1577
3. Sorensen SA, Mulvihill JJ, Nielsen A (1986) A. Long-term follow-up of von Recklinghausen neurofibromatosis. N Eng J Med 314:1010-1015
4. Ducatman SB, Bernd WS, David GP, Herbert MR, Duane MI (1986) Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer 57:2006-2021
5. Friedman JM, Birch PH (1997) Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet 70:138-143
6. Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A (2002) Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 39:311-314
7. Viskochil DH (1998) Gene structure and function. In: Upadhyaya M, Cooper DN (eds) Neurofibromatosis type 1: from genotype to phenotype. BIOS Scientific Publications Limited, pp 39-56
8. Cichowski K, Jacks T (2001) NF1 tumor suppressor gene function: narrowing the GAP. Cell 104:593-604
9. Upadhyaya M, Cooper DN (1998) The mutational spectrum in neurofibromatosis type 1 and its underlying mechanisms. In: Upadhyaya M, Cooper DN (eds) NF1: from genotype to phenotype. BIOS Publishers, Oxford
10. Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X (2000) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 9:237-247
11. Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kucukceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nurnberg P (2000) Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet 66:790-818
12. Messiaen L, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 955 of mutations and reveals a high frequency of unusual splicing defects. Hum Mut 15:541-555
13. Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas N, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN (2004) Characterisation of somatic mutational spectrum of neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumours. Hum Mut 23:134-146
14. Serra E, Plug S, Otero D, Gaons A, Kruyer H, Ars E, Estivill X, Lazaro C (1997) Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am J Hum Genet 51:512-519
15. Serra E, Rosenbaum T, Winner U, Aldeo R, Ars E, Estivill X, Lenard HG, Lazaro C (2000) Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two Schwann cells subpopulations. Hum Mol Genet 9:3055-3084
16. Serra E, Ars E, Ravella A, Sanchez A, Puig S, Rosenbaum T, Estivill X, Lazaro C (2001) Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. Hum Genet 108:416-429
17. Maertens O, Brems H, Vandesompele J, De Raedt T, Heyns I, Rosenbaum T, De Schepper S, De Paepe A, Mortier G, Janssens S et al (2006) Comprehensive NF1 screening on the cultured Schwann cells from neurofibromas. Hum Mut 27:1030-1040
18. Li Y, Bollag G, Clark R, Stevens J, Conroy L, Fults D, Ward K, Friedman E, Samowitz W, Robertson M, Bradley P, McCormick F, White R, Cawthon R. (1992) Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 69:275-281
19. Legius E, Merchuk DA, Collins FS, Glover TW (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumor suppressor gene hypothesis. Nat Genet 3:122-126
20. Zhu Y, Ghosh P, Charnay P, Burns DK, Parada LF (2002) Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science 296:920-922
21. Weiss SW, Goldblum JR (eds) (2001) Enzinger and Weiss's soft tissue tumors; Benign tumours of peripheral nerves [chapter 30], Malignant tumors of the peripheral nerves (chapter 31), 4th edn. Missouri, USA, Mosby, pp 111-1207, 1209-1263
22. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acid Res 30:e57
23. Futreal PA, Barrett JC, Wiseman RW (1991) An Alu polymorphism intragenic to the TP53 gene. NAR 19:6977
24. Friedman JM, Gutman DH, MacCollin M, Riccardi VM (1999) Neurofibromatosis; Phenotype, natural history, and pathogenesis, 3rd edn. The Johns Hopkins University Press: Baltimore and London
25. Zoller M, Rembeck B, Akesson HO, Angervall L (1995) Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol 75:136-140
26. DeRaedt T, Maertens O, Brems H, Heyns I, Sciot R, Majounie E, Upadhyaya M, Speleman F, Messiaen L, Vermeesch JR, Legius E (2006) Loss of heterozygosity in neurofibromas: comparison of NF1 microdeletion and non-microdeletion patients. Genes Chromosomes Cancer 45:893-904
27. Colman SD, Williams CA, Wallace MR (1995) Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nat Genet 11:90-92
28. Daschner K, Assum G, Eisenbarth I, Krone W et al (1997) Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene. Biochem Biophys Res Commun 234:346-350
29. Kluwe L, Friedrich RE, Mautner VF (1999) Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. Cancer Gene Cytogenet 113:65-69
30. Eisenbarth I, Beyer K, Krone W, Assum G (2000) Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. Am J Hum Genet 66:393-401
31. John A, Ruggieri M, Ferner R, Upadhyaya M (2000) A search for evidence of somatic mutation of the NF1 gene. J Med Genet 37:44-49
32. Rasmussen SA, Overman J, Thomson SA, Colman SD, Abernathy CR, Trimpert RE, Moose R, Virdi G, Roux K, Bauer M, Rojiani AM, Maria BL, Muir D, Wallace MR (2000) Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumours in neurofibromatosis type 1. Genes Chromosomes Cancer 28:425-431
33. Serra E, Rosenbaum T, Nadal M, Winner U, Ars E, Estivill X, Lazaro C (2001) Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. Nat Genet 28:294-296
34. Wiest V, Eisenbarth I, Schmegner C, Krone W, Assum G (2003) Somatic NF1 mutation spectra in a family with neurofibromatosis type 1 toward a theory of genetic modifiers. Hum Mutat 22:423-427
35. Sawada S, Florell S, Purandare SM, Ota M, Stephens K, Viskochil D (1996) Identification of NF1 mutations in both allelles of a dermal neurofibroma. Nat Genet 14:110-112
36. Kayes LM, Burke W, Riccardi VM, Bennet R, Ehrlich P, Rubenstein A, Stephens K (1994) Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet 54:424-436
37. Cnosson MH, Van Der Est MN, Breuning MH, Van Asperen CJ, Breslau-Siderius EJ et al (1997) Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat 9:458-464
38. Lopez-Correa C, Dorscher M, Brems H, Lazaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E (2001) Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet 10:1387-1392
39. Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner VF (2004) Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 23:111-116
40. Wimmer K, Yao S, Claes K, Kehrer-Sawatzki H, Tinschert S, De Raedt T, Legius E, Callens T, Beiglbock H, Maertens O, Messiaen L (2006) Spectrum of single- and multi-exon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer 45:265-276
41. Wang Q, Lasset C, Desseigne F, Frappaz D, Bergeron C, Navarro C, Ruano E, Puisieux A (1999) Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 59:294-297
42. Ricciardone MD, Ozcelik T, Cevher B, Ozdag H, Tuncer M, Gurgey A, Uzunalimoglu O, Cetinkaya H, Tanyeli A, Erken E, Ozturk M (1999) Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 59:290-293
43. Whiteside D, McLeod R, Graham G, Steckley JL, Booth K, Somerville MJ, Andrew SE (2002) A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. Cancer Res 62:359-362
44. Wang Q, Montmain G, Ruano E, Upadhyaya M, Dudley S, Liskay MR, Thibodeau SN, Puisieux A (2003) The neurofibromatosis type 1 gene as a mutational target in mismatch repair-deficient cells. Hum Genet 112:117-123
45. Nigro JM, Baker SJ, Preisinger AC, Jessup JM, Hostettor R, Cleary K, Bigner SH, Davidson N, Baylin S, Devilee P, Glover T, Collins FS, Weston A, Modali R, Harris CC, Vogelstein B (1989) Mutations in the p53 gene occur in diverse human tumour types. Nature 342:705-708
46. Rasmussen SA, Wallace MR (1998) Somatic mutations of the NF1 gene in type 1 neurofibromatosis and cancer. In: Upadhyaya M, Cooper DN (eds) NF1: from genotype to phenotype. BIOS Publishers, Oxford