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

Reviewer: Komal Arora, M.D. (see Authors page)

Revised: 29 March 2016, last major update July 2012

Copyright: (c) 2003-2016,, Inc.

PubMed Search: soft tissue syndrome
Table of Contents
Definition / General
Definition / General
Bannayan Zonana syndrome:
  • Multiple lipomas and hemangiomas
  • OMIM #153480

    Beckwith-Wiedemann syndrome:
  • Congenital overgrowth syndrome associated with alveolar rhabdomyosarcoma (Pediatr Dev Pathol 2001;4:550)
  • OMIM #130650

    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:
  • Gastric GIST, pulmonary chondroma and extra-adrenal paraganglioma (Mayo Clinic Proceedings 1999;74:543, Mayo Clinic Proceedings;1999;74:638)
  • OMIM # 604287

    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:
  • OMIM #151800

    Maffucci syndrome:
  • Hemangiomas, enchondroma, chondrosarcoma
  • OMIM #166000

    Mazabraud's syndrome:
  • Fibrous dysplasia and intramuscular myxoma (J Cancer Res Clin Oncol 1998;124:401)

    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:
  • Multiple lipomas may be a minor feature
  • OMIM #131100

    Neurofibromatosis type 1:
  • Neurofibroma, MPNST
  • OMIM #162200

    Neurofibromatosis type 2:
  • Schwannoma, neurofibroma, meningioma, astrocytoma, rarely perineurioma (Am J Surg Pathol 2006;30:1624)
  • OMIM #101000

    Osler-Weber-Rendu syndrome:
  • Telangiectasias
  • OMIM #187300

    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:
  • Port-wine spot of face
  • OMIM #185300

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

    Sarcomas associated with hereditary nonpolyposis colorectal cancer:
  • Uterine sarcomas, liposarcoma, leiomyosarcoma, and carcinosarcoma (Fam Cancer 2009;8:209)