Genetic tumour syndromes involving the CNS
2023-08-01 Paola Dal Cin, PhD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Classification
Definition
The central and peripheral nervous systems are frequently implicated in a wide range of genetic tumour predisposition syndromes. Some of the common relationships between syndromes and tumors have long been appreciated, however, additional less aware of syndromic associations have been reported See details in WHO 2021 Central Nervous System Tumours.
| Genetic tumur syndromes involving the CNS | OMIM |
|---|---|
| Neurofibromatosis type 1 | OMIM:162200 |
| Neurofibromatosis type 2 | OMIM:101000 |
| Schwannomatosis | OMIM:162091, OMIM:615670 |
| Von Hippel-Lindau syndrome | OMIM:193300 |
| Tuberous sclerosis | OMIM:191100,OMIM:613254 |
| Li-Fraumeni syndrome | OMIM:151623 |
| Cowden syndrome | OMIM:158350 |
| Constitutional mismatch repair deficiency syndrome | OMIM:276300 |
| Familial adenomatous polyposis 1 | OMIM:175100 |
| Naevoid basal cell carcinoma syndrome | OMIM:109400 |
| Rhabdoid tumour predisposition syndrome | OMIM:609322,OMIM:613325 |
| Carney complex | OMIM:613325 |
| DICER1 syndrome | OMIM:606241 |
| Familial paraganglioma syndromes | OMIM:171400, OMIM:162300,OMIM:164761, OMIM:193300, OMIM:608537,OMIM:162200, OMIM:614165, OMIM:600857,OMIM:606864, OMIM:115310, OMIM:185470,OMIM:605373, OMIM:602413,OMIM:168000, OMIM:602690 |
| Melanoma-astrocytoma syndrome | OMIM:155755 |
| Familial retinoblastoma | OMIM:180200 |
| BAP1 tumour predisposition syndrome | OMIM:614327 |
| Fanconi anaemia | OMIM:605724,OMIM:610832 |
| ELP1-medulloblastoma syndrome | OMIM:155255 |
Bibliography
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Citation
Paola Dal Cin, PhD
Genetic tumour syndromes involving the CNS
Atlas Genet Cytogenet Oncol Haematol. 2023-08-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/209200/genetic-tumour-syndromes-involving-the-cns
