메뉴 건너뛰기




Volumn 34, Issue 6, 2014, Pages 3021-3030

NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies

Author keywords

Elephantiasis neuromatosa; GIST; malignant peripheral nerve sheet tumors; Neurofibromatosis type 1; Plexiform neurofibroma; NF1 truncating mutations

Indexed keywords

ADENOMATOUS POLYP; ADULT; AGED; ARTICLE; BREAST CANCER; CANCER INCIDENCE; CLINICAL ARTICLE; COLON CANCER; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIGESTIVE SYSTEM CANCER; DUODENUM CANCER; ELEPHANTIASIS; ELEPHANTIASIS NEUROMATOSA; FEMALE; FIRST DEGREE RELATIVE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GERMLINE MUTATION; GLIOBLASTOMA; HUMAN; KIDNEY CANCER; MALE; MIDDLE AGED; NEUROFIBROMATOSIS; NF1 GENE; PANCREAS CANCER; PATHOGENESIS; PHENOTYPE; SOLID TUMOR; COHORT ANALYSIS; FAMILY; FOLLOW UP; GENETICS; GIST; MALIGNANT PERIPHERAL NERVE SHEET TUMORS; MUTATION; NEOPLASM; NEUROFIBROMA; NEUROFIBROMATOSIS TYPE 1; NF1 TRUNCATING MUTATIONS; PACHYDERMATOCELE; PATHOLOGY; PEDIGREE; PLEXIFORM NEUROFIBROMA; PROGNOSIS;

EID: 84906309106     PISSN: 02507005     EISSN: 17917530     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (33)
  • 1
    • 0024205878 scopus 로고
    • Von Recklingausen neurofibromatosis. A clinical and population study in south-east Wales
    • Huson SM, Harper PS and Compston DA: Von Recklingausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 111: 1355-1381, 1988.
    • (1988) Brain , vol.111 , pp. 1355-1381
    • Huson, S.M.1    Harper, P.S.2    Compston, D.A.3
  • 2
    • 0033605480 scopus 로고    scopus 로고
    • Plexiform neurofibromas
    • Korf BR: Plexiform neurofibromas. Am J Med Genet 89: 31-37, 1999.
    • (1999) Am J Med Genet , vol.89 , pp. 31-37
    • Korf, B.R.1
  • 4
    • 0036494640 scopus 로고    scopus 로고
    • International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis
    • Ferner RE and Gutman DH: International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res 62: 1573-1577, 2002.
    • (2002) Cancer Res , vol.62 , pp. 1573-1577
    • Ferner, R.E.1    Gutman, D.H.2
  • 6
    • 84917712110 scopus 로고
    • A case of elephantiasis neuromatosa
    • Spittel RL, Fernando SE: A case of elephantiasis neuromatosa. Br Med J 1: 596-597, 1929.
    • (1929) Br Med J , vol.1 , pp. 596-597
    • Spittel, R.L.1    Fernando, S.E.2
  • 10
    • 0027248455 scopus 로고
    • Orbital plexiform neurofibroma
    • Ferguson VM and Kyle PM: Orbital plexiform neurofibroma. Br J Ophthalmol 77: 527-528, 1993.
    • (1993) Br J Ophthalmol , vol.77 , pp. 527-528
    • Ferguson, V.M.1    Kyle, P.M.2
  • 11
    • 84858970396 scopus 로고    scopus 로고
    • From lymph to fat: Liposuction as a treatment for complete reduction of lymphedema
    • Brorson H: From lymph to fat: liposuction as a treatment for complete reduction of lymphedema. Int J Low Extrem Wounds 11: 10-19, 2012.
    • (2012) Int J Low Extrem Wounds , vol.11 , pp. 10-19
    • Brorson, H.1
  • 16
    • 84917712109 scopus 로고
    • Report of a Case of Molluscum Fibrosum or Fibroma with observations
    • Pollock G: Report of a Case of Molluscum Fibrosum or Fibroma with observations. Med Chir Trans 56: 255-266, 1873.
    • (1873) Med Chir Trans , vol.56 , pp. 255-266
    • Pollock, G.1
  • 17
    • 85048378853 scopus 로고    scopus 로고
    • Images in clinical medicine. Elephantiasis neuromatosa
    • Chiu H Y, Liao YH: Images in clinical medicine. Elephantiasis neuromatosa. N Engl J Med 368: 23, 2013.
    • (2013) N Engl J Med , vol.368 , pp. 23
    • Chiu, H.Y.1    Liao, Y.H.2
  • 21
    • 0028902601 scopus 로고
    • Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Sweden
    • Zöller M, Rembeck B, Akesson HO and Angervall L: Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Sweden. Acta Derm Venereol 75: 136-140, 1995.
    • (1995) Acta Derm Venereol , vol.75 , pp. 136-140
    • Zöller, M.1    Rembeck, B.2    Akesson, H.O.3    Angervall, L.4
  • 22
    • 0035025409 scopus 로고    scopus 로고
    • Mortality in neurofibromatosis 1: An analysis using U.S. Death certificates
    • Rasmussen SA, Yang Q and Friedman JM: Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 68: 1110-1118, 2001.
    • (2001) Am J Hum Genet , vol.68 , pp. 1110-1118
    • Rasmussen, S.A.1    Yang, Q.2    Friedman, J.M.3
  • 23
    • 0027974256 scopus 로고
    • Neurofibromatosis and childhood leukaemia/lymphoma: A population-based UKCCSG study
    • Stiller CA, Chessells JM and Fitchett M: Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCCSG study. Br J Cancer 70: 969-972: 1994.
    • (1994) Br J Cancer , vol.70 , pp. 969-972
    • Stiller, C.A.1    Chessells, J.M.2    Fitchett, M.3
  • 24
    • 34447562827 scopus 로고    scopus 로고
    • Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
    • Sharif S, Moran A, Huson SM, Iddenden R, Shenton A, Howard E and Evans DG: Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 44: 481-484, 2007.
    • (2007) J Med Genet , vol.44 , pp. 481-484
    • Sharif, S.1    Moran, A.2    Huson, S.M.3    Iddenden, R.4    Shenton, A.5    Howard, E.6    Evans, D.G.7
  • 25
    • 84872617743 scopus 로고    scopus 로고
    • Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: Population-based record-linkage study
    • Seminog OO and Goldacre MJ: Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study. British Journal of Cancer 108: 193-198, 2013.
    • (2013) British Journal of Cancer , vol.108 , pp. 193-198
    • Seminog, O.O.1    Goldacre, M.J.2
  • 28
    • 84866311718 scopus 로고    scopus 로고
    • Neurofibromatosis type 1: From genotype to phenotype
    • Pasmant E, Vidaud M, Vidaud D and Wolkenstein P: Neurofibromatosis type 1: from genotype to phenotype. J Med Genet 49: 483-489, 2012.
    • (2012) J Med Genet , vol.49 , pp. 483-489
    • Pasmant, E.1    Vidaud, M.2    Vidaud, D.3    Wolkenstein, P.4
  • 30
    • 0242272383 scopus 로고    scopus 로고
    • Evaluation of genotype-phenotype correlations in neurofibro-matosis type 1
    • Castle B, Baser ME, Huson SM, Cooper DN and Upadhyaya M: Evaluation of genotype-phenotype correlations in neurofibro-matosis type 1. J Med Genet 40: e109, 2003.
    • (2003) J Med Genet , vol.40 , pp. e109
    • Castle, B.1    Baser, M.E.2    Huson, S.M.3    Cooper, D.N.4    Upadhyaya, M.5
  • 31
    • 0346363769 scopus 로고    scopus 로고
    • Somatic NF1 mutation spectra in a family with neurofibro-matosis type 1: Toward a theory of genetic modifiers
    • Wiest V, Eisenbarth I, Schmegner C Krone W and Assum G: Somatic NF1 mutation spectra in a family with neurofibro-matosis type 1: toward a theory of genetic modifiers. Hum Mutat 22: 423-427, 2003.
    • (2003) Hum Mutat , vol.22 , pp. 423-427
    • Wiest, V.1    Eisenbarth, I.2    Schmegner Krone C, W.3    Assum, G.4
  • 32
    • 84860605931 scopus 로고    scopus 로고
    • Neurofibromatosis type 1-associated tumors: Their somatic mutational spectrum and pathogenesis
    • Laycock-van Spyk S, Thomas N, Cooper DN and Upadhyaya M: Neurofibromatosis type 1-associated tumors: Their somatic mutational spectrum and pathogenesis. Hum Genomics 5: 623-690, 2011.
    • (2011) Hum Genomics , vol.5 , pp. 623-690
    • Laycock-Van Spyk, S.1    Thomas, N.2    Cooper, D.N.3    Upadhyaya, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.