Parafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features.

doi:10.1097/PAS.0000000000001017

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Article

Parafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features.

The American journal of surgical pathology - 1 Jan 2019

Gill Anthony J, Lim Grace, Cheung Veronica K Y, Andrici Juliana, Perry-Keene Joanna L, Paik Julie, Sioson Loretta, Clarkson Adele, Sheen Amy, Luxford Catherine, Elston Marianne S, Meyer-Rochow Goswin Y, Nano M Teresa, Kruijff Schelto, Engelsman Anton F, Sywak Mark, Sidhu Stanley B, Delbridge Leigh W, Robinson Bruce G, Marsh Deborah J, Toon Christopher W, Chou Angela, Clifton-Bligh Roderick J

Abstract excerpt

The gene CDC73 (previously known as HRPT2) encodes the protein parafibromin. Biallelic mutation of CDC73 is strongly associated with malignancy in parathyroid tumors. Heterozygous germline mutations cause hyperparathyroidism jaw tumor syndrome,which is associated with a high life-time risk of parathyroid carcinoma. Therefore loss of parafibromin expression by immunohistochemistry may triage genetic testing for...

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PMID: 29324469
DOI: 10.1097/PAS.0000000000001017
PMCID: PMC6296846

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CDC73

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