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

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Soft Tissue Tumors

Introduction

Syndromes (molecular / genetic) associated with soft tissue tumors

Reviewer: Komal Arora, M.D. (see Reviewers page)
Revised: 17 July 2012, last major update July 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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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 Mazabraud’s 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)

End of Soft Tissue Tumors > Introduction > Syndromes (molecular / genetic)

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