Elevated risk for MPNST in NF1 microdeletion patients

被引：194

作者：

De Raedt, T

Brems, H

Wolkenstein, P

Vidaud, D

Pilotti, S

Perrone, F

Mautner, V

Frahm, S

Sciot, R

Legius, E

机构：

[1] Catholic Univ Louvain, Dept Human Genet, B-3000 Louvain, Belgium

[2] Catholic Univ Louvain, Dept Pathol, B-3000 Louvain, Belgium

[3] Hop Henri Mondor, Dept Dermatol, F-94010 Creteil, France

[4] Genet Mol Lab, Upres, France

[5] Ist Nazl Studio & Cura Tumori, Dept Pathol, Unit Expt Mol Pathol, I-20133 Milan, Italy

[6] Klinikum Nord, Dept Neurol, Hamburg, Germany

[7] Univ Hamburg, Hosp Eppendorf, Dept Neurosurg, Lab Brain Tumor Biol, D-20246 Hamburg, Germany

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 72卷 / 05期

关键词：

D O I：

10.1086/374821

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1288 / 1292

页数：5

共 26 条

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