Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens

Paola Ciotti, Paola Mandich, Emilia Bellone, Paola Ceppa, Marta Bovio, Pietro Ameri, Giancarlo Torre, Roberto Fiocca, Giovanni Murialdo
American journal of medical genetics. Part A · 2011 · vol. 155(11) , pp. 2750–2753 · doi:10.1002/ajmg.a.34031 · PMID:21915987 · W2053101414
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Genetic analysis of a 44-year-old woman with a malignant presacral neuroendocrine tumor and bicornuate uterus identified an HLXB9 mutation, confirming Currarino syndrome and highlighting the risk of rare malignant transformation in these patients.

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Abstract

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.

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MeSH descriptors

Carcinoma, Neuroendocrine Digestive System Abnormalities Genetic Testing Pelvis Syringomyelia Adult Anal Canal Anal Canal Anal Canal Carcinoma, Neuroendocrine Carcinoma, Neuroendocrine Carcinoma, Neuroendocrine Constipation Constipation Dermoid Cyst Dermoid Cyst Digestive System Abnormalities Digestive System Abnormalities Digestive System Abnormalities Fatal Outcome

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