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Malignant degeneration of presacral teratoma in the Currarino anomaly
Author(s) -
Urioste Miguel,
del Carmen GarciaAndrade M.,
Valle Laura,
Robledo Mercedes,
GonzálezPalacios Fernando,
Méndez Ramiro,
Ferreirós Joaquin,
Nuño Javier,
Benítez Javier
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30028
Subject(s) - medicine , dermoid cyst , teratoma , cyst , malignancy , constipation , sacrococcygeal teratoma , malignant transformation , hamartoma , anorectal anomalies , surgery , sacrum , anatomy , pathology , biology , pregnancy , fetus , genetics
The autosomal dominant Currarino anomaly (CA) comprises a presacral mass, partial sacral agenesis, and anorectal defects. Chronic constipation in childhood related to anorectal defects is the most common presenting symptom and hemisacrum the most frequent malformation. The presacral mass may be an anterior meningomyelocele, teratoma, hamartoma, dermoid cyst, neuroenteric cyst, or a combination of these. Sepsis and meningitis are frequent serious problems related to the anterior meningomyelocele, whilst malignant transformation of presacral teratoma is a rare, severe complication in CA. Here, we report on a three‐generation family segregating the CA, presenting with anorectal defects, severe constipation, and sacral involvement in affected relatives. Teratoma was the most frequent component of the presacral mass. In this kindred a 22‐year‐old man died of a neuroendocrine tumor, probably related to malignant change in a presacral teratoma. A novel mutation in HLXB9 consisting of a 24‐bp deletion and insertion of 2‐bp into exon 1, was identified in all patients and in also three asymptomatic members of this family. Anterior meningomyelocele is the most frequently reported component of the presacral masses in CA; however, presacral teratomas carry an inherent risk for malignancy that must be considered in the counseling, surgical treatment options, and follow‐up of CA patients. © 2004 Wiley‐Liss, Inc.