Malignant peripheral nerve sheath tumor causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shanshan Cen, M.D. [2]

Overview

Malignant peripheral nerve sheath tumor may be caused by a mutation in the neurofibromatosis type I gene.

Causes

• Malignant peripheral nerve sheath tumor may be caused by a mutation in the neurofibromatosis type I gene.

• About half of the cases of malignant peripheral nerve sheath tumor (MPNST) occur along with NF1. The lifetime risk of having both of these conditions is at 8–13% while those with only MPNST have a 0.001% in the general population.

• The NF1 gene locus is on chromosome 17q11.2 and the gene product is neurofibromin, which acts as a tumor suppressor. Inactivation of the gene predisposes to tumor development.