Genetic tumor syndromes of soft tissue and bone

2022-12-06   Paola Dal Cin, PhD 

1.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 boneOMIM
EchondromatosisOMIM:166000, OMIM:614569
Li-Fraumeni syndromeOMIM:151623
McCune-Albright syndrome OMIM:174600
Multiple ostechondromasOMIM:137700,OMIM:133701, OMIM:150230,OMIM:601224
Neurofibromatosis type 1OMIM:162200
Rothmund-Thomson syndromeOMIM:258400
Werner syndromeOMIM: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