Soft tissue
Syndromes (molecular / genetic) associated with soft tissue tumors

Topic Completed: 1 July 2012

Minor changes: 1 May 2019

Copyright: 2002-2018,, Inc.

PubMed Search: Soft tissue syndrome

Komal Arora, M.D.
Page views in 2019: 1,104
Page views in 2020 to date: 671
Table of Contents
Definition / general
Cite this page: Arora K. Syndromes (molecular / genetic) associated with soft tissue tumors . website. Accessed July 13th, 2020.
Definition / general
Bannayan Zonana syndrome:

Beckwith-Wiedemann syndrome:

Carney syndrome / complex:
  • Autosomal dominant multiple neoplasia syndrome with myxomas and pigmented lesions of skin and mucosa, due to mutation in PRKAR1A gene (OMIM #160980) or 2p16 abnormalities (OMIM #605244)

Carney triad:

Gardner syndrome:
  • Fibromatosis, familial adenomatous polyposis and osteomas
  • OMIM #175100

Kasabach-Merritt syndrome:
  • Microangiopathic hemolytic anemia associated with childhood hemangioma or kaposiform hemangioendothelioma
  • OMIM #141000

Klippel-Trenaunay-Weber syndrome:
  • Hemangiomas with hypertrophy of associated bone and soft tissue
  • OMIM #149000

Launois-Bensaude syndrome:
  • Painless symmetrical diffuse deposits of fat beneath the skin of the neck, upper trunk, arms and legs
  • Also known as multiple symmetrical lipomatosis, cephalothoracic lipodystrophy and Madelung disease

Li Fraumeni syndrome:
  • Various soft tissue sarcomas, osteosarcoma, breast cancer, brain tumors, leukemia and adrenocortical carcinoma
  • Usually due to p53 mutation
  • OMIM #151623

Lipomatosis, multiple syndrome:

Maffucci syndrome:

Mazabraud's syndrome:

McCune-Albright syndrome:
  • Major features are polyostotic fibrous dysplasia, cafe-au-lait skin pigmentation and precocious puberty
  • Myxomas are minor feature (see Mazabrauds syndrome)
  • OMIM #174800

Multiple endocrine neoplasia 1:

Neurofibromatosis type 1:

Neurofibromatosis type 2:

Osler-Weber-Rendu syndrome:

Proteus syndrome:
  • Various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation and nevi (eMedicine)

Stewart-Treves syndrome:
  • Cutaneous angiosarcoma that develops in long-standing chronic lymphedema (eMedicine)

Sturge-Weber syndrome:

Turner syndrome:
  • 45 X0, associated with cystic hygroma (eMedicine), rarely familial desmoids or GIST

Sarcomas associated with hereditary nonpolyposis colorectal cancer:
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