Overview

NCI Definition: A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO) [1]

Craniopharyngiomas most frequently harbor alterations in CTNNB1, BRAF, TSC2, NF2, and KMT2D [2].

Most Commonly Altered Genes in Craniopharyngioma

CTNNB1 Mutation, CTNNB1 S37F, BRAF V600E, BRAF Mutation, and BRAF Exon 15 Mutation are the most common alterations in craniopharyngioma [2].

Top Alterations in Craniopharyngioma

Significant Genes in Craniopharyngioma

MYCN +

Disease Details

Synonyms
Tumor of Rathke's Pouch, Rathke's Pouch Neoplasm, Neoplasm of Rathke's Pouch, Rathke Pouch Neoplasm, Rathke's Pouch Tumor, Rathke Pouch Tumor, CRANIOPHARYNGIOMA, BENIGN, Cystoma, Craniopharyngioma (WHO Grade I)
Parent(s)
Squamous Cell Neoplasm
Children
Adamantinomatous Craniopharyngioma and Papillary Craniopharyngioma

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.