Craniopharyngioma arising in a Rathke's cleft cyst: case report

Craniopharyngioma is one of the most common non-glial intracranial tumors of childhood. Its relation to Rathke's cleft cyst (RCC) is controversial, and both lesions have been hypothesized to lie on a continuum of cystic ectodermal lesions of the sellar region. The authors report on a 7-year-old boy who presented with decreased visual acuity, presumably of at least 2 years' duration, and was found to have a 5.2-cm sellar lesion with rim enhancement. Histological examination of the resected lesion showed a mixture of areas with simple RCC morphology with focal squamous metaplasia and areas with typical craniopharyngioma morphology. Immunohistochemical staining with CK20 and Ki 67 differentially highlighted the 2 morphological components. Testing for beta-catenin and BRAF mutations was negative in the craniopharyngioma component, precluding definitive molecular classification. Follow-up imaging showed minimal residual enhancement and the patient will be closely followed up with serial MRI. Given the clinical and histological findings in the case, a progressive transformation of the RCC to craniopharyngioma seems to be the most plausible explanation for the co-occurrence of the 2 lesion types in this patient. An extensive review of previously proposed theories of the relationship between craniopharyngioma and RCC is also presented.