Sacral Chordoma in A Pediatric Patient: A Case Report

Abstract

Chordomas are rare malignant tumours arising from primitive notochordal remnants and comprises of 0.2 % of primary brain tumours and less than 5 % of primary bone tumours [1]. Only 5 % of them occur in the first two decades. Only 300 paediatric cases have been reported so far in the literature [2-5]. The average age at diagnosis in children is 10 years with a male-to-female ratio being close to 1. Adult chordomas are primarily found in the sacro-coccygeal region whereas the majority of paediatric chordomas are intracranial. Metastatic spread seems to be more common in children under 5-year-old with more frequent in case of sacro-coccygeal locations and undifferentiated histology. The tumour location majorly determines the clinical presentation. Sacrococcygeal forms may present with an ulcerated subcutaneous mass, radicular pain, bladder and bowel dysfunctions. Diagnosis is suspected on computerised tomography showing the bone destruction and with typically lobulated appearance, hyperintense on T2-weighted magnetic resonance imaging. Management of these tumours is based on possible complete primary resection followed by local irradiation, ideally proton beam therapy. A major prognostic factor identified in chordomas was age of onset and it is notable that the worst progression occurs in very young children, under the age of 5 years. Prognosis is better in children than in adults except for the aggressive form of chordomas occurring in children under 5 years of age. The brachyury growth factor (growth factor T) is a specific marker of chordomas, implicated in notochordal development. Its locus 6q27 is frequently amplified within chordoma cells and its inactivation can block growth of chordoma tumour cell lines (U-CH1) in vitro