PIK3CA Mutational Analysis of Parathyroid Adenomas.

JBMR Plus
Aaliyah RiccardiAndrew Arnold

Abstract

Benign parathyroid adenoma is the most common cause of primary hyperparathyroidism, whereas malignant parathyroid carcinoma is exceedingly rare. Distinguishing parathyroid carcinoma from benign adenoma is often difficult, and may be considerably delayed even after surgical resection until the rigorous diagnostic criteria of local invasion of surrounding tissues and/or distant metastases are fulfilled. Thus, new insights into their respective molecular bases may potentially aid in earlier diagnostic discrimination between the two, as well as informing new directions for treatment. In two recent studies, gain-of-function mutations in PIK3CA, a recognized driver oncogene in many human malignancies, have been newly identified in parathyroid carcinoma. To assess the potential specificity for malignant, as opposed to benign parathyroid disease, of PIK3CA hotspot mutations, we PCR-amplified and Sanger sequenced codons 111, 542/545, and 1047 and the immediate flanking regions in genomic DNA from 391 typical, sporadic parathyroid adenomas. Four parathyroid adenomas (1%) had subclonal, somatic, heterozygous, activating PIK3CA mutations. The rarity of PIK3CA activating mutations in benign parathyroid adenomas suggests that tumorigenic act...Continue Reading

References

Jun 29, 2012·The Journal of Clinical Endocrinology and Metabolism·M Kyle CromerTobias Carling
Apr 26, 2013·The Journal of Pathology·Katayoon KasaianSteven J M Jones
Mar 30, 2017·JCI Insight·Chetanya PandyaRong Chen
Nov 23, 2017·Nucleic Acids Research·Melissa J LandrumDonna R Maglott
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Nov 27, 2018·Endocrine-related Cancer·Kelly BrewerAndrew Arnold
Feb 12, 2019·Seminars in Cancer Biology·Rand Arafeh, Yardena Samuels

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