Associated Genetic Biomarkers

Overview

NCI Definition: A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO) [1]

Papillary craniopharyngiomas most frequently harbor alterations in BRAF, NOTCH1, KMT2D, CTNNB1, and CADM2 [2].

Most Commonly Altered Genes in Papillary Craniopharyngioma

BRAF V600E, BRAF Mutation, BRAF Exon 15 Mutation, BRAF Codon 600 Missense, and NOTCH1 P1443L are the most common alterations in papillary craniopharyngioma [2].

Top Alterations in Papillary Craniopharyngioma

Significant Genes in Papillary Craniopharyngioma

BRAF +

Disease Details

Synonyms
Papillary Rathke's Pouch Tumor, Papillary Tumor of Rathke's Pouch, Papillary Rathke's Pouch Neoplasm, Papillary Neoplasm of Rathke's Pouch, Papillary Rathke Pouch Neoplasm
Parent(s)
Craniopharyngioma
OncoTree Name
Craniopharyngioma, Papillary Type
OncoTree Code
PCGP

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.