TY - JOUR
AR - COR-2019-3-105
TI - Genetic and immune profiling for potential therapeutic targets in adult human craniopharyngioma
AU -  Zoran , Gatalica
AU - Amy B. , Heimberger
AU - Carlos, Kamiya-Matsuoka
AU - Cynthia , Kassab
AU - Daniel , Zamler
AU - David , Spetzler
AU - Joanne , Xiu
JO - Clinical Oncology and Research
PY - 2019
DA - Thu 27, Jun 2019
SN - 2613-4942
DO - http://dx.doi.org/10.31487/j.COR.2019.03.05
UR - https://www.sciencerepository.org/genetic-and-immune-profiling-for-potential-therapeutic-targets-in-adult-human-craniopharyngioma_COR-2019-3-105 
KW - Craniopharyngioma, genetic profiling, immune profiling, PD-L1, EGFR
AB - 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