How to Cite this Article: Ciotti P, Mandich P, Bellone E, Ceppa P, Bovio M, Ameri P, Torre G, Fiocca R, Murialdo G. 2011. Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. Am J Med Genet Part A 155: 2750–2753.
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens†
Article first published online: 13 SEP 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2750–2753, November 2011
How to Cite
Ciotti, P., Mandich, P., Bellone, E., Ceppa, P., Bovio, M., Ameri, P., Torre, G., Fiocca, R. and Murialdo, G. (2011), Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. Am. J. Med. Genet., 155: 2750–2753. doi: 10.1002/ajmg.a.34031
- Issue published online: 20 OCT 2011
- Article first published online: 13 SEP 2011
- Manuscript Accepted: 10 FEB 2011
- Manuscript Received: 29 OCT 2010
- Currarino syndrome;
- HLXB9 gene;
- neuroendocrine tumor;
- pelvic mass
Currarino syndrome (CS) is an autosomal dominant disorder of embryonic development characterized by the triad of anorectal abnormalities, partial sacral agenesis, and presacral mass. Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype–phenotype correlation has not been described so far. We report the clinical case of a 44-year-old Caucasian woman with malignant neuroendocrine transformation of a pre-sacrococcygeal mass combined with bicornuate uterus, dermoid cyst of the ovaries, and chronic constipation. After the patient died, a sacrococcygeal malformation and anterior meningocele were diagnosed in her 22-year-old son. CS diagnosis was then retrospectively confirmed by molecular analysis of normal and pathological tissue specimens of the mother, with identification of a HLXB9 mutation (c.727C>T; p.R243W). CS should be considered, and genetic counseling recommended, to all patients with presacral masses. Since malignant neuroendocrine transformation of presacral mass in CS is a possible complication, even thought rare, close follow up in these patients is advisable. © 2011 Wiley Periodicals, Inc.