Familial nervous system tumour syndromes

Inheritance

eight genetic syndromes are associated with nervous system tumours; these are: Neufibromatosis 1 (NF1) Neufibromatosis 2 (NF2) Tuberous sclerosis Turcot syndrome Von Hippel-Lindau syndrome Li-Fraumeni syndrome Gorlin syndrome Cowden syndrome

Clinics

Neoplastic risk

Neufibromatosis 1 (NF1): Nervous System Tumors Neurofibromas, Astrocytomas, Optic nerve gliomas Other tumors Pheochromocytoma , Osseous lesions, Iris hamartomas Genes NF1 located in 17q11 Neufibromatosis 2 (NF2): Nervous System Tumors Schwanomas, Meningiomas, Spinal ependymomas, Astrocytomas Other tumors Retinal hamartoma Genes NF2 located in 22q12 Tuberous sclerosis: Nervous System Tumors Astrocytomas, Subependymal giant cell tumors Other tumors Cutaneous angio-fibroma, Cardiac rhabdomyomas, Adenomatous polyps of duodenum, Renal hamartomatous tumors, Cysts of the lung and kidney. Genes TSC1 and TSC2 located in 9q34 and 16p13 respectively Turcot syndrome: Nervous System Tumors Medulloblastomas, Glioblastomas Other tumors Colorectal polyps Genes APC, hMLh1 and hPMS2 located in 5q21, 3p21, and 7p22 respectively Von Hippel-Lindau syndrome: Nervous System Tumors Hemangioblastomas Other tumors Retinal hemangioblastomas, Renal cell carcinoma, Pheochromocytoma Genes VHL located in 3p25 Li-Fraumeni syndrome: Nervous System Tumors Astrocytomas, PNET Other tumors Breast carcinoma, Bone and soft tissues sarcomas, Adenocortical carcinoma, leukaemia Genes TP53 located in 17p13 Gorlin syndrome: Nervous System Tumors Medulloblastomas Other tumors Multiple basal cell carcinomas, Ovarian fibromas. Genes PTCH located in 9q31 Cowden syndrome: Nervous System Tumors Dysplastic gangliocytoma of the cerebellum Other tumors Hamartomatous polyps of the colon, Thyroid neoplasms, Breast carcinoma Genes PTEN located in 10q23

Bibliography

Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene.

Minelli A, Maserati E, Giudici G, Tosi S, Olivieri C, Bonvini L, De Filippi P, Biondi A, Lo Curto F, Pasquali F, Danesino C

Cancer genetics and cytogenetics. 2001 ; 124 (2) : 147-151.

PMID 11172908

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Contributor(s)

Written	01-2001	Anne Marie Capodano

Citation

This paper should be referenced as such :

Capodano AM . Familial nervous system tumour syndromes. Atlas Genet Cytogenet Oncol Haematol. January 2001 . URL : http://AtlasGeneticsOncology.org/Genes/FamilNervousCanID10067.html

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indexed on : Mon Aug 11 21:21:31 2008

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