Genetic and immune profiling for potential therapeutic targets in adult human craniopharyngioma

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Author Info

Zoran Gatalica Amy B. Heimberger Carlos Kamiya-Matsuoka Cynthia Kassab Daniel Zamler David Spetzler Joanne Xiu

Corresponding Author

Amy B. Heimberger
Departments of Neurosurgery, The University of Texas MD Anderson Cancer Center, Houston, TX

A B S T R A C T

Craniopharyngioma is a rare tumor in adults. Although histologically benign, it can be locally aggressive and may require additional therapeutic modalities to surgical resection. Analyses including next generation sequencing, chromogenic and in situ hybridization, immunohistochemistry, and gene amplification were used to profile craniopharyngiomas (n=6) for frequently altered therapeutic targets. Four of six patients had the BRAFV600E missense mutation, frequent in the papillary craniopharyngioma subtype. One patient had a missense mutation in the WNT pathway, specifically CTNNB1, often associated with the adamantinomatous subtype. Craniopharyngiomas lacked microsatellite instability, had low tumor mutational burden, but did express PD-L1 protein, indicating potential therapeutic value for immune checkpoint inhibition. We identified mutations not previously described, including an E318K missense mutation in the MITF gene, an R1407 frameshift in the SETD2 gene of the PIK3CA pathway, R462H in the NF2 gene, and a I463V mutation in TSC2. Two patients testing positive for EGFR expression were negative for the EGFRvIII variant. Herein, we identified several alterations such as those in BRAFV600E and PD-L1, which may be considered as targets for combination therapy of residual craniopharygiomas

Article Info

Article Type

Research Article

Publication history

Received: Sat 25, May 2019
Accepted: Thu 13, Jun 2019
Published: Thu 27, Jun 2019

Copyright

© 2023 Amy B. Heimberger. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.
DOI: 10.31487/j.COR.2019.03.05