Neurofibromatosis 2 (NF2) and Malignant Mesothelioma in a Man with a Constitutional NF2 Missense Mutation
Saturday, December 10th, 2005.
Familial Cancer. Volume 4, Number 4 (321 - 322); November 2005. [Link]
M.E. Baser1 Contact Information, H. Rai2, A.J. Wallace3 and D.G.R. Evans3
(1) M.E. Baser, 10622 Kinnard Ave. #203, Los Angeles, 90024, California, USA
(2) Department of Radiology, Walsall Hospital, West Midlands, UK
(3) University Department of Medical Genetics, St. Mary’s Hospital, Manchester, UK
Abstract
Neurofibromatosis 2 (NF2) is caused by inactivating mutations of the NF2 tumor suppressor gene. Somatic NF2 mutations also occur in a high proportion of human primary malignant mesotheliomas. We report an elderly man with NF2, malignant mesothelioma, and a constitutional NF2 missense mutation. The long latent period for mesothelioma in this patient (61 years) raises the possibility that the type of mutant NF2 allele could affect mesothelioma tumorigenesis or progression.
Keywords: mesothelioma - missense mutation - neurofibromatosis 2 - NF2
Glossary
- mutation
- a change; a change in a gene.
- gene
- a segment of DNA that contains information on hereditary characteristics such as hair color, eye color, and height, as well as susceptibility to certain diseases. Women who have BRCA1 or BRCA2 gene mutations (defects) have an inherited tendency to develop breast cancer.
- cancer
- malignancy; a group of diseases typified by abnormal, generally out-of-control, cell growth.
- tumor
- an abnormal lump or mass of tissue. Tumors can be benign (not cancerous) or malignant (cancerous).
- mesothelioma
- a tumor derived from mesothelial tissue, such as the peritoneum (lining the abdomen) or pleura (lining the lungs). More on mesothelioma.
- tumorigenesis
- production or formation of tumors.
