Familial Craniopharyngioma: A Case Report and Review of Literature

Background: Familial craniopharyngioma is rare, and literature regarding its inheritance patterns is very limited. We present a unique case of a 62-year-old man treated surgically for a craniopharyngioma, whose younger brother had a similar lesion also treated surgically, and review the literature on this uncommon entity.

Case Presentation: A 62-year-old gentleman presented with headache, loss of peripheral vision, loss of libido, and general malaise for three months. Extensive work-up revealed a suprasellar mass precipitating pan-hypopituitarism, for which he was supplemented with exogenous hydrocortisone and levothyroxine. Ophthalmologic evaluation confirmed marked bitemporal hemianopia with severe loss of right visual acuity. Magnetic resonance imaging demonstrated a 3.5 × 2.8 × 2.5 cm heterogeneous suprasellar mass with a gadolinium-enhancing nodule and polycystic components, which notably compressing the optic chiasm ([Fig. 1]). The patient underwent a right frontotemporal craniotomy, orbitozygomatic osteotomy, and anterior clinoidectomy for tumor resection. The tumor was very adherent to the hypothalamus, and the decision was made to halt after an extensive subtotal resection, from which the patient recovered very well to his preoperative neurologic and cognitive baseline without new deficit. Pathology confirmed the diagnosis craniopharyngioma, which was positive for the BRAFV600E mutation. Postoperative complications were limited to transient diabetes insipidus, which was managed with elective use of Desmopressin, and the patient was discharged home in stable condition on postoperative day three. Visual fields improved significantly during the postoperative period, and the tumor remnant was treated with adjuvant radiotherapy to a dose of 54 Gy in 30 fractions. As of last follow-up, the tumor remnant is unchanged and the patient is neurologically intact.

Of note, the patient’s younger brother underwent a transsphenoidal surgery for craniopharyngioma at another hospital. Review of the literature identified three preceding articles reporting familial craniopharyngiomas: two occurred in association with consanguinity among parents or grandparents, suggesting a probably autosomal recessive inheritance pattern. Simultaneously, six patients with familial adenomatous polyposis coli (APC) have also been reported as developing craniopharyngiomas; however, the responsible underlying genetic or genomic drivers have yet to be identified.

Conclusion: Familial craniopharyngioma is exceedingly rare, with fewer than 4 families reported in the literature. Contemporary understanding of the molecular mechanism is lacking, and further investigations are required to establish the potential role of BRAF inhibitors in the treatment paradigm for this subset of patients.

Fig. 1

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