title: Malignant degeneration of presacral teratoma in the Currarino anomaly.
abstract: 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.
authors.affiliation: Department of Human Genetics, Centro Nacional de Investigaciones Oncológicas, Madrid, Spain. murioste@cnio.es
authors.forename: Miguel
authors.initials: M
authors.lastname: Urioste
authors.forename: M del Carmen
authors.initials: Mdel C
authors.lastname: Garcia-Andrade
authors.forename: Laura
authors.initials: L
authors.lastname: Valle
authors.forename: Mercedes
authors.initials: M
authors.lastname: Robledo
authors.forename: Fernando
authors.initials: F
authors.lastname: González-Palacios
authors.forename: Ramiro
authors.initials: R
authors.lastname: Méndez
authors.forename: Joaquin
authors.initials: J
authors.lastname: Ferreirós
authors.forename: Javier
authors.initials: J
authors.lastname: Nuño
authors.forename: Javier
authors.initials: J
authors.lastname: Benítez
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities*; D001859:Bone Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010386:Pelvic Neoplasms / Q000235:genetics; D010388:Pelvis / Q000002:abnormalities; D012007:Rectum / Q000002:abnormalities*; D012445:Sacrococcygeal Region; D012447:Sacrum / Q000002:abnormalities*; D013125:Spinal Neoplasms / Q000235:genetics; D013577:Syndrome; D013724:Teratoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors