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Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors

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Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. / Kluwe, L; Friedrich, R E; Hagel, C; Lindenau, M; Mautner, V F.

in: J INVEST DERMATOL, Jahrgang 114, Nr. 5, 01.05.2000, S. 1017-21.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kluwe, L, Friedrich, RE, Hagel, C, Lindenau, M & Mautner, VF 2000, 'Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors', J INVEST DERMATOL, Jg. 114, Nr. 5, S. 1017-21. https://doi.org/10.1046/j.1523-1747.2000.00975.x

APA

Kluwe, L., Friedrich, R. E., Hagel, C., Lindenau, M., & Mautner, V. F. (2000). Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. J INVEST DERMATOL, 114(5), 1017-21. https://doi.org/10.1046/j.1523-1747.2000.00975.x

Vancouver

Kluwe L, Friedrich RE, Hagel C, Lindenau M, Mautner VF. Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. J INVEST DERMATOL. 2000 Mai 1;114(5):1017-21. https://doi.org/10.1046/j.1523-1747.2000.00975.x

Bibtex

@article{3fce2f32513b40e78a42f64ef39b5826,
title = "Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors",
abstract = "Schwannomas in the skin are frequently observed in neurofibromatosis 2 patients. In about one-quarter of the cases, skin tumors are the first clinical symptoms of this disease. Recognizing neurofibromatosis-2-related skin tumors is therefore important for early diagnosis of neurofibromatosis 2, especially in pediatric patients. In this study, we examined 40 skin tumors (36 schwannomas and four neurofibromas) from 20 neurofibromatosis 2 patients for NF2 mutations and allelic loss. NF2 mutations have been identified in blood from 15 (75%) of the 20 patients. We found NF2 mutations in five (13%) and NF2 allelic loss in 18 (45%) of the 40 analyzed tumors. Genetic alterations (allelic loss or mutation) were thus found in 50 (63%) out of the total of 80 examined alleles. In 17 (43%) tumors, alterations were found on both NF2 alleles. These results suggest that, as in the case of vestibular schwannomas and meningiomas, loss of functional NF2 gene product is also the critical event in the development of skin schwannomas. Identification of genetic alterations of the NF2 gene in skin tumors may help to identify neurofibromatosis-2-associated skin tumors, thus assisting in the diagnosis of neurofibromatosis 2 in ambiguous cases, and excluding neurofibromatosis 1 in unclear cases. We also report that the detection rate of constitutional mutations was higher in patients with skin tumors (65%) than in patients without skin tumors (40%).",
keywords = "Genes, Neurofibromatosis 2, Humans, Loss of Heterozygosity, Mutation, Neurofibromatosis 2, Skin Neoplasms",
author = "L Kluwe and Friedrich, {R E} and C Hagel and M Lindenau and Mautner, {V F}",
year = "2000",
month = may,
day = "1",
doi = "10.1046/j.1523-1747.2000.00975.x",
language = "English",
volume = "114",
pages = "1017--21",
journal = "J INVEST DERMATOL",
issn = "0022-202X",
publisher = "NATURE PUBLISHING GROUP",
number = "5",

}

RIS

TY - JOUR

T1 - Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors

AU - Kluwe, L

AU - Friedrich, R E

AU - Hagel, C

AU - Lindenau, M

AU - Mautner, V F

PY - 2000/5/1

Y1 - 2000/5/1

N2 - Schwannomas in the skin are frequently observed in neurofibromatosis 2 patients. In about one-quarter of the cases, skin tumors are the first clinical symptoms of this disease. Recognizing neurofibromatosis-2-related skin tumors is therefore important for early diagnosis of neurofibromatosis 2, especially in pediatric patients. In this study, we examined 40 skin tumors (36 schwannomas and four neurofibromas) from 20 neurofibromatosis 2 patients for NF2 mutations and allelic loss. NF2 mutations have been identified in blood from 15 (75%) of the 20 patients. We found NF2 mutations in five (13%) and NF2 allelic loss in 18 (45%) of the 40 analyzed tumors. Genetic alterations (allelic loss or mutation) were thus found in 50 (63%) out of the total of 80 examined alleles. In 17 (43%) tumors, alterations were found on both NF2 alleles. These results suggest that, as in the case of vestibular schwannomas and meningiomas, loss of functional NF2 gene product is also the critical event in the development of skin schwannomas. Identification of genetic alterations of the NF2 gene in skin tumors may help to identify neurofibromatosis-2-associated skin tumors, thus assisting in the diagnosis of neurofibromatosis 2 in ambiguous cases, and excluding neurofibromatosis 1 in unclear cases. We also report that the detection rate of constitutional mutations was higher in patients with skin tumors (65%) than in patients without skin tumors (40%).

AB - Schwannomas in the skin are frequently observed in neurofibromatosis 2 patients. In about one-quarter of the cases, skin tumors are the first clinical symptoms of this disease. Recognizing neurofibromatosis-2-related skin tumors is therefore important for early diagnosis of neurofibromatosis 2, especially in pediatric patients. In this study, we examined 40 skin tumors (36 schwannomas and four neurofibromas) from 20 neurofibromatosis 2 patients for NF2 mutations and allelic loss. NF2 mutations have been identified in blood from 15 (75%) of the 20 patients. We found NF2 mutations in five (13%) and NF2 allelic loss in 18 (45%) of the 40 analyzed tumors. Genetic alterations (allelic loss or mutation) were thus found in 50 (63%) out of the total of 80 examined alleles. In 17 (43%) tumors, alterations were found on both NF2 alleles. These results suggest that, as in the case of vestibular schwannomas and meningiomas, loss of functional NF2 gene product is also the critical event in the development of skin schwannomas. Identification of genetic alterations of the NF2 gene in skin tumors may help to identify neurofibromatosis-2-associated skin tumors, thus assisting in the diagnosis of neurofibromatosis 2 in ambiguous cases, and excluding neurofibromatosis 1 in unclear cases. We also report that the detection rate of constitutional mutations was higher in patients with skin tumors (65%) than in patients without skin tumors (40%).

KW - Genes, Neurofibromatosis 2

KW - Humans

KW - Loss of Heterozygosity

KW - Mutation

KW - Neurofibromatosis 2

KW - Skin Neoplasms

U2 - 10.1046/j.1523-1747.2000.00975.x

DO - 10.1046/j.1523-1747.2000.00975.x

M3 - SCORING: Journal article

C2 - 10771486

VL - 114

SP - 1017

EP - 1021

JO - J INVEST DERMATOL

JF - J INVEST DERMATOL

SN - 0022-202X

IS - 5

ER -