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Metastatic alveolar rhabdomyosarcoma in multiple endocrine neoplasia type 2A
Author(s) -
Jones Ashley E.,
Albano Edythe A.,
Lovell Mark A.,
Hunger Stephen P.
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22591
Subject(s) - medicine , rhabdomyosarcoma , sarcoma , malignancy , multiple endocrine neoplasia , alveolar rhabdomyosarcoma , medullary cavity , endocrine system , thyroid carcinoma , pathology , penetrance , cancer , medullary thyroid cancer , oncology , thyroid , hormone , biochemistry , chemistry , gene , phenotype
Rhabdomyosarcoma (RMS), the most common pediatric soft tissue sarcoma, accounts for 3% of childhood malignancies. Multiple Endocrine Neoplasia (MEN) type 2A is an autosomal dominant syndrome associated with near universal development of medullary thyroid carcinoma. We describe a previously unreported association of MEN‐2A with metastatic alveolar RMS and review the literature on associated hereditary cancer predisposition syndromes and current therapeutic options. The high penetrance of malignancy in patients with MEN warrants a heightened suspicion for the development of nonendocrine malignancies. The diagnosis of RMS should prompt consideration of screening for familial genetic syndromes in certain patients. Pediatr Blood Cancer. 2010;55:1213–1216. © 2010 Wiley‐Liss, Inc.