Parathyroid cancer with MTOR gene mutation: Case report and review of the literature

Stark, J. M.; Tőke, Judit; Huszty, Gergely; Nagy, Péter; Bedics, Gábor; Bödör, Csaba; Tı́már, József; Tóth, Miklós

doi:10.1016/j.ando.2023.06.003

Annales d'Endocrinologie

2023

DOI: 10.1016/j.ando.2023.06.003

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Parathyroid cancer with MTOR gene mutation: Case report and review of the literature

J. M. Stark

Judit Tőke

Gergely Huszty

et al.

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2024

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Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis

Pardi,

Poma,

Torregrossa

et al. 2024

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Atypical parathyroid tumor (APT) represents a neoplasm characterized by histological features typical of parathyroid carcinoma (PC) but lacking local infiltration and/or distant metastasis, leading to uncertainty regarding its malignant potential. Objective To characterize the molecular landscape and deregulated pathways in APT. Methods Whole exome sequencing (WES) was conducted on 16 APTs. DNA from tumors and matched peripheral blood underwent WES using Illumina HiSeq3000. Results A total of 192 nonsynonymous variants were identified. The median number of protein-altering mutations was 9. The most frequently mutated genes included BCOR, CLMN, EZH1, JAM2, KRTAP13-3, MUC16, MUC19, and OR1S1. Seventeen mutated genes belong to the Cancer Gene Census list. The most consistent hub genes identified through STRING network analysis were ATM, COL4A5, EZH2, MED12, MEN1, MTOR, PI3, PIK3CA, PIK3CB, and UBR5. Deregulated pathways included the PI3 K/AKT/mTOR pathway, Wnt signaling, and extracellular matrix organization. Variants in genes such as MEN1, CDC73, EZH2, PIK3CA, and MTOR, previously reported as established or putative/candidate driver genes in benign adenoma (PA) and/or PC, were also identified in APT. Conclusions APT does not appear to have a specific molecular signature but shares genomic alterations with both PA and PC. The incidence of CDC73 mutations is low, and it remains unclear whether these mutations are associated with a higher risk of recurrence. Our study confirms that PI3 K/AKT/mTOR and Wnt signaling represents the pivotal pathways in parathyroid tumorigenesis and also revealed mutations in key epigenetic modifier genes (BCOR, KDM2A, MBD4, and EZH2) involved in chromatin remodeling, DNA, and histone methylation.

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Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis

Pardi,

Poma,

Torregrossa

et al. 2024

The Journal of Clinical Endocrinology &Amp; Metabolism

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Parathyroid cancer with MTOR gene mutation: Case report and review of the literature

Cited by 1 publication

References 15 publications

Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis

Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis

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