Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways

Journal of the Endocrine Society
Callisia N ClarkeOlivier Lichtarge

Abstract

Elucidating the genomic landscape of sporadic parathyroid carcinoma (PC) has been limited by low tumor incidence. Identify driver mutations of sporadic PC and potential actionable pathways. Patients undergoing surgical resection for sporadic PC between 1980 and 2016 at MD Anderson Cancer Center were identified. Patients with sporadic PC according to World Health Organization diagnostic criteria and with available formalin-fixed, paraffin-embedded (FFPE) PC tumor tissue were included and their clinical data analyzed to assess extent of disease. Patients with parathyroid tumors of uncertain malignancy or atypical parathyroid neoplasms were excluded. Thirty-one patients meeting diagnostic criteria had available tissue for analysis. FFPE PC tumors were subjected to DNA extraction and next-generation whole-exome sequencing. All variant calls are single-algorithm only. Twenty-nine samples passed quality assurance after DNA extraction. Somatic or private germline mutations present in sporadic PC and identification of pathways involved in tumorigenesis. We identified 35 genes with considerable mutational load; only eight genes were previously identified in other PC cohorts. These genes mediate critical processes, including chromosome o...Continue Reading

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Citations

Jul 19, 2019·Human Mutation·Panagiotis Katsonis, Olivier Lichtarge
Sep 6, 2019·Journal of Endocrinological Investigation·F CetaniC Marcocci
Oct 31, 2019·Cancers·Nikita N Machado, Scott M Wilhelm
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Nov 7, 2019·Journal of the Endocrine Society·Sara StorvallCamilla Schalin-Jäntti
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Oct 10, 2020·Progress in Biophysics and Molecular Biology·James P Lees-MillerSusan P Lees-Miller

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Methods Mentioned

BETA
surgical resection
Assay
PCR
exome sequencing

Software Mentioned

STRING
VarScan
COSMIC
VARSCAN2
ANNOVAR
BWA

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