Genetic tumor syndromes of soft tissue and bone
2022-12-06 Paola Dal Cin, PhD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Classification
Definition
There are many disorders associated with bone and soft tissue tumors. The occurrence of bilateral, multifocal, or metachronous neoplasms and specific histopathological findings can suggest a genetic predisposition syndrome. Constitutional pathogenetic variants can now be routinely screened by next generation sequencing (NGS) to identify at-risk individuals in affected families and offer genetic counseling, choice of therapy and surveillance guideline. There are a few syndromes where their clinical, histopathological, and genetic characteristics are well characterized or because their associated neoplasms have features that are different from those of their sporadic counterparts. However, there are many more genes associated with specific syndromes and disorders that can predispose individuals to both soft bone and soft tissue tumors. See details in WHO 2020 Soft Tissue and Bone Tumours.
| Genetic tumour syndromes of soft tissue and bone | OMIM |
|---|---|
| Echondromatosis | OMIM:166000, OMIM:614569 |
| Li-Fraumeni syndrome | OMIM:151623 |
| McCune-Albright syndrome | OMIM:174600 |
| Multiple ostechondromas | OMIM:137700,OMIM:133701, OMIM:150230,OMIM:601224 |
| Neurofibromatosis type 1 | OMIM:162200 |
| Rothmund-Thomson syndrome | OMIM:258400 |
| Werner syndrome | OMIM:277700 |
Bibliography
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Citation
Paola Dal Cin, PhD
Genetic tumor syndromes of soft tissue and bone
Atlas Genet Cytogenet Oncol Haematol. 2022-12-06
Online version: http://atlasgeneticsoncology.org/solid-tumor/208991/genetic-tumor-syndromes-of-soft-tissue-and-bone
