Tumors in Rubinstein-Taybi syndrome

Am J Med Genet. 1995 Mar 13;56(1):112-5. doi: 10.1002/ajmg.1320560125.


The 14 tumors reported in Rubinstein-Taybi syndrome since 1989, when added to the 22 previously reported, are beginning to show a pattern of neural and developmental tumors, especially of the head, which is malformed in the syndrome. Among the neoplasms were 12 of the nervous system: 2 each of oligodendroglioma, medulloblastoma, neuroblastoma, and benign meningioma, a pheochromocytoma, and 3 other benign tumors; 2 of nasopharyngeal rhabdomyosarcoma; and 1 each of leiomyosarcoma, seminoma, and embryonal carcinoma. Among the other benign tumors were an odontoma, a choristoma, a dermoid cyst, and 2 pilomatrixomas.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Head and Neck Neoplasms / complications
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Neoplasms / complications*
  • Neoplasms, Germ Cell and Embryonal / complications
  • Neoplasms, Nerve Tissue / complications
  • Nervous System Neoplasms / complications
  • Rubinstein-Taybi Syndrome / complications*