Send to:

Choose Destination
See comment in PubMed Commons below

Nongonadal neoplasia in patients with Turner syndrome.

Author information

  • 1Division of Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.


In a prospective study of 50 patients with retinoblastoma, a 10-year-old girl with unilateral (right eye) retinoblastoma was found to have 45,X karyotype. Because there is increasing evidence of nongonadal neoplasia occurring in patients with Turner syndrome in addition to the gonadal tumor from dysgenetic gonads, we reviewed the occurrence of nongonadal neoplasia in Turner syndrome cases. Of all the nongonadal neoplasia, neurogenic tumors show a preponderence among children and young adults with Turner syndrome. To the best of our knowledge, this is the first reported case of Turner syndrome with retinoblastoma. The available literature strongly suggests that patients with Turner syndrome may be at risk of developing neurogenic tumors. Further studies are necessary to identify the role of some X-linked genes that escape X-inactivation in tumorigenesis in patients with Turner syndrome.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk