Genomic Profiling of Parathyroid Carcinoma Reveals Genomic Alterations Suggesting Benefit from Therapy

Conclusion.CGP identified GAs in PC that suggest benefit from targeted therapy, as supported by an index case of response to a matched tyrosine kinase inhibitor. Moreover, the unexpectedly high frequency of high TMB (>20 m/Mb) suggests a subset of PC may benefit from immune checkpoint inhibitors.Implications for Practice.Parathyroid carcinoma (PC) is a rare endocrine malignancy that can cause life‐threatening hypercalcemia. However, its molecular characteristics remain unclear, with few systemic therapeutic options available for this tumor. Hybrid‐capture‐based comprehensive genomic profiling of 16 primary cancers demonstrated presence of potentially actionable genomic alterations, including PTEN, NF1, KDR, PIK3CA, and TSC2, and a subset of hypermutated cancers with more than 20 mutations per megabase, the latter of which could benefit from immune checkpoint inhibitor therapy. A case benefiting from rationally matched targeted therapy for activating KDR mutation is also presented. These findings should be further investigated for their therapeutic potential.

Source: The Oncologist - June 17, 2019 Category: Cancer & Oncology Authors: Hyunseok Kang, Dean Pettinga, Adrian D. Schubert, Paul W. Ladenson, Douglas W. Ball, Jon H. Chung, Alexa B. Schrock, Russell Madison, Garrett M. Frampton, Phil J. Stephens, Jeffrey S. Ross, Vincent A. Miller, Siraj M. Ali Tags: Head and Neck Cancers, Precision Medicine Clinic: Molecular Tumor Board Endocrinology Source Type: research