Elevated risk for MPNST in NF1 microdeletion patients.
An NF1 microdeletion is the single most commonly reported mutation in individuals with neurofibromatosis type 1 (NF1). Individuals with an NF1 microdeletion have, as a group, more neurofibromas at a younger age than the group of all individuals with NF1. We report that NF1 microdeletion individuals additionally have a substantially higher lifetime risk for the development of malignant peripheral nerve sheath tumors than individuals with NF1 who do not have an NF1 microdeletion. This should be taken into account in the medical follow-up of individuals with an NF1 microdeletion.
18 references, click to expand
-
Clinical application of genetic polymorphism in neurofibromatosis type 1.Ann Genet. 1996;39(2):92-6 PMID: 8766140
-
Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.Am J Med Genet. 1995 Dec 4;59(4):528-35 PMID: 8585580
-
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?Hum Mutat. 1997;9(5):458-64 PMID: 9143927
-
Do NF1 gene deletions result in a characteristic phenotype?Am J Med Genet. 1997 Nov 28;73(1):80-6 PMID: 9375928
-
Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.Am J Med Genet. 1997 Dec 12;73(2):197-204 PMID: 9409873
-
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.J Med Genet. 1998 Jun;35(6):468-71 PMID: 9643287
-
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.Hum Mutat. 1999;14(5):387-93 PMID: 10533064
-
Germline mutations in NF1 patients with malignancies.Genes Chromosomes Cancer. 1999 Dec;26(4):376-80 PMID: 10534774
-
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.Hum Mol Genet. 2000 Jan 1;9(1):35-46 PMID: 10587576
-
Unequal meiotic crossover: a frequent cause of NF1 microdeletions.Am J Hum Genet. 2000 Jun;66(6):1969-74 PMID: 10775528
-
Rb and TP53 pathway alterations in sporadic and NF1-related malignant peripheral nerve sheath tumors.Lab Invest. 2001 Jun;81(6):833-44 PMID: 11406645
-
Recombination hotspot in NF1 microdeletion patients.Hum Mol Genet. 2001 Jun 15;10(13):1387-92 PMID: 11440991
-
Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients.Arch Dermatol. 2001 Jul;137(7):908-13 PMID: 11453810
-
Malignant peripheral nerve sheath tumours in neurofibromatosis 1.J Med Genet. 2002 May;39(5):311-4 PMID: 12011145
-
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.J Med Genet. 1989 Nov;26(11):704-11 PMID: 2511318
-
Malignant schwannoma of the head and neck.Am J Surg. 1992 Apr;163(4):440-2 PMID: 1558285
-
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.Am J Hum Genet. 1994 Mar;54(3):424-36 PMID: 8116612
-
Deletion of the entire NF1 gene causing distinct manifestations in a family.Am J Med Genet. 1997 Mar 3;69(1):98-101 PMID: 9066892
Contact
No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong
Qilu Normal University · Genelibs Bioinformatics Lab
750 Shunhua Rd, Jinan
2F, Bldg F, University Science Park
Tel: 0531-88819269
WeChat Official Account
Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.
Business Email
E-mail: product@genelibs.com
Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2
