Presacral masses in children: presentation, aetiology and risk of malignancy

Aim The risk of malignant changes in presacral tumours in children was investigated in relation to age at diagnosis, type of presentation and origin of the tumour. Method A retrospective review was carried out in 17 patients surgically treated for congenital presacral masses over a 22-year period. Results Constipation was the main symptom in 14 (82%) of 17 patients. The lesions were evident on digital examination in 14 patients. Mature teratoma (n = 9, 64%) was the most common lesion, including three malignancies. Currarino syndrome was diagnosed in 10 (71%) patients. Two unclassified variant HLXB9 gene mutations were found in five (29%) patients who underwent genetic testing. Conclusion Congenital presacral tumours in children were mostly mature teratomas, either as sacrococcygeal teratomas or as part of the Currarino syndrome. The risk of malignancy in patients older than 1 year necessitates early surgical resection.