Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).
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Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). / Upadhyaya, M; Kluwe, Lan; Spurlock, G; Monem, Bisma; Majounie, E; Mantripragada, K; Ruggieri, Martino; Chuzhanova, N; Evans, D G; Ferner, R; Thomas, N; Guha, A; Mautner, Viktor Felix.
in: HUM MUTAT, Jahrgang 29, Nr. 1, 1, 2008, S. 74-82.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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T1 - Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).
AU - Upadhyaya, M
AU - Kluwe, Lan
AU - Spurlock, G
AU - Monem, Bisma
AU - Majounie, E
AU - Mantripragada, K
AU - Ruggieri, Martino
AU - Chuzhanova, N
AU - Evans, D G
AU - Ferner, R
AU - Thomas, N
AU - Guha, A
AU - Mautner, Viktor Felix
PY - 2008
Y1 - 2008
N2 - About 10% of neurofibromatosis type 1 (NF1) patients develop malignant peripheral nerve sheath tumors (MPNSTs) and represent considerable patient morbidity and mortality. Elucidation of the genetic mechanisms by which inherited and acquired NF1 disease gene variants lead to MPNST development is important. A study was undertaken to identify the constitutional and somatic NF1 mutations in 34 MPNSTs from 27 NF1 patients. The NF1 germline mutations identified in 22 lymphocytes DNA from these patients included seven novel mutations and a large 1.4-Mb deletion. The NF1 germline mutation spectrum was similar to that previously identified in adult NF1 patients without MPNST. Somatic NF1 mutations were identified in tumor DNA from 31 out of 34 MPNSTs, of which 28 were large genomic deletions. The high prevalence (>90%) of such deletions in MPNST contrast with the =or
AB - About 10% of neurofibromatosis type 1 (NF1) patients develop malignant peripheral nerve sheath tumors (MPNSTs) and represent considerable patient morbidity and mortality. Elucidation of the genetic mechanisms by which inherited and acquired NF1 disease gene variants lead to MPNST development is important. A study was undertaken to identify the constitutional and somatic NF1 mutations in 34 MPNSTs from 27 NF1 patients. The NF1 germline mutations identified in 22 lymphocytes DNA from these patients included seven novel mutations and a large 1.4-Mb deletion. The NF1 germline mutation spectrum was similar to that previously identified in adult NF1 patients without MPNST. Somatic NF1 mutations were identified in tumor DNA from 31 out of 34 MPNSTs, of which 28 were large genomic deletions. The high prevalence (>90%) of such deletions in MPNST contrast with the =or
M3 - SCORING: Zeitschriftenaufsatz
VL - 29
SP - 74
EP - 82
JO - HUM MUTAT
JF - HUM MUTAT
SN - 1059-7794
IS - 1
M1 - 1
ER -