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Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas

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Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. / Kluwe, L; Friedrich, R E; Mautner, V F.

In: CANCER GENET-NY, Vol. 113, No. 1, 01.08.1999, p. 65-9.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Kluwe, L, Friedrich, RE & Mautner, VF 1999, 'Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas', CANCER GENET-NY, vol. 113, no. 1, pp. 65-9.

APA

Kluwe, L., Friedrich, R. E., & Mautner, V. F. (1999). Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. CANCER GENET-NY, 113(1), 65-9.

Vancouver

Kluwe L, Friedrich RE, Mautner VF. Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. CANCER GENET-NY. 1999 Aug 1;113(1):65-9.

Bibtex

@article{118a35f4226f49fcb21190484297ad56,
title = "Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas",
abstract = "Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with a complex variety of clinical symptoms. Genetic alteration of the NF1 gene on 17q11.2 is the disease. Neurofibromas of the peripheral nervous system are one main manifestation. A variant of neurofibroma is the plexiform neurofibroma which can be found in about 30% of NF1-patients, often causing severe clinical symptoms. In this study, we examined 14 such tumors from 10 NF1-patients for allele loss of the NF1 gene (LOH: loss of heterozygosity) using four intragenic polymorphic markers. Loss of heterozygosity was found in eight tumors from five patients, and suspected in one additional tumor from another patient. This finding suggests that loss of the second allele, and thus inactivation of both alleles of the NF1 gene, is associated with the development of plexiform neurofibromas. The 14 plexiform neufibromas were also examined for mutation in the TP53 gene by screening exons 5 through 8 using temperature gradient gel electrophoresis. No mutation was found in any of the tumors.",
keywords = "Adult, Child, Child, Preschool, DNA Mutational Analysis, Electrophoresis, Polyacrylamide Gel, Exons, Facial Neoplasms, Female, Genes, Neurofibromatosis 1, Genes, p53, Humans, Leg, Loss of Heterozygosity, Male, Middle Aged, Neurofibroma, Plexiform, Neurofibromatosis 1, Orbital Neoplasms, Peripheral Nervous System Diseases",
author = "L Kluwe and Friedrich, {R E} and Mautner, {V F}",
year = "1999",
month = aug,
day = "1",
language = "English",
volume = "113",
pages = "65--9",
journal = "CANCER GENET-NY",
issn = "2210-7762",
publisher = "Elsevier BV",
number = "1",

}

RIS

TY - JOUR

T1 - Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas

AU - Kluwe, L

AU - Friedrich, R E

AU - Mautner, V F

PY - 1999/8/1

Y1 - 1999/8/1

N2 - Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with a complex variety of clinical symptoms. Genetic alteration of the NF1 gene on 17q11.2 is the disease. Neurofibromas of the peripheral nervous system are one main manifestation. A variant of neurofibroma is the plexiform neurofibroma which can be found in about 30% of NF1-patients, often causing severe clinical symptoms. In this study, we examined 14 such tumors from 10 NF1-patients for allele loss of the NF1 gene (LOH: loss of heterozygosity) using four intragenic polymorphic markers. Loss of heterozygosity was found in eight tumors from five patients, and suspected in one additional tumor from another patient. This finding suggests that loss of the second allele, and thus inactivation of both alleles of the NF1 gene, is associated with the development of plexiform neurofibromas. The 14 plexiform neufibromas were also examined for mutation in the TP53 gene by screening exons 5 through 8 using temperature gradient gel electrophoresis. No mutation was found in any of the tumors.

AB - Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with a complex variety of clinical symptoms. Genetic alteration of the NF1 gene on 17q11.2 is the disease. Neurofibromas of the peripheral nervous system are one main manifestation. A variant of neurofibroma is the plexiform neurofibroma which can be found in about 30% of NF1-patients, often causing severe clinical symptoms. In this study, we examined 14 such tumors from 10 NF1-patients for allele loss of the NF1 gene (LOH: loss of heterozygosity) using four intragenic polymorphic markers. Loss of heterozygosity was found in eight tumors from five patients, and suspected in one additional tumor from another patient. This finding suggests that loss of the second allele, and thus inactivation of both alleles of the NF1 gene, is associated with the development of plexiform neurofibromas. The 14 plexiform neufibromas were also examined for mutation in the TP53 gene by screening exons 5 through 8 using temperature gradient gel electrophoresis. No mutation was found in any of the tumors.

KW - Adult

KW - Child

KW - Child, Preschool

KW - DNA Mutational Analysis

KW - Electrophoresis, Polyacrylamide Gel

KW - Exons

KW - Facial Neoplasms

KW - Female

KW - Genes, Neurofibromatosis 1

KW - Genes, p53

KW - Humans

KW - Leg

KW - Loss of Heterozygosity

KW - Male

KW - Middle Aged

KW - Neurofibroma, Plexiform

KW - Neurofibromatosis 1

KW - Orbital Neoplasms

KW - Peripheral Nervous System Diseases

M3 - SCORING: Journal article

C2 - 10459349

VL - 113

SP - 65

EP - 69

JO - CANCER GENET-NY

JF - CANCER GENET-NY

SN - 2210-7762

IS - 1

ER -