Familial nervous system tumour syndromes

2001-01-01   Anne Marie Capodano 

Laboratoire de Cytogénétique Oncologique, Hôpital de la Timone, 264 rue Saint Pierre, 13005 Marseille, France

Identity

Name

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

    • Omim

    -

    Orphanet

    183503 Genetic central nervous system and retinal vascular disease

    Umls

    -

    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

    Pubmed IDLast YearTitleAuthors
    111729082001Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene.Minelli A et al

    External Links