CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases

Mamedova E.O.; Mokrysheva N.G.; Pigarova E.A.; Przhiialkovskaia E.G.; Voronkova I.A.; Vasil’eva E.V.; Petrov V.M.; Gorbunova V.A.; Rozhinskaia L.Ia.; Belaia Zh.E.; Tiul'pakov A.N.

doi:https://doi.org/10.17116/terarkh201688657-62

Mamedova E.O.

FGBU "ndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF, Moskva

Mokrysheva N.G.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Pigarova E.A.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia RF, Moskva

Przhiialkovskaia E.G.

FGBU "ndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF, Moskva

Voronkova I.A.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Vasil’eva E.V.

Endocrinology Research Centre, Moscow, Russia

Petrov V.M.

Endocrinology Research Centre, Moscow, Russia

Gorbunova V.A.

FGBU "Rossiĭskiĭ onkologicheskiĭ nauchnyĭ tsentr im. N.N. Blokhina" RAMN

Rozhinskaia L.Ia.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Belaia Zh.E.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases

Authors:

Mamedova E.O., Mokrysheva N.G., Pigarova E.A., Przhiialkovskaia E.G., Voronkova I.A., Vasil’eva E.V., Petrov V.M., Gorbunova V.A., Rozhinskaia L.Ia., Belaia Zh.E., Tiul'pakov A.N.

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Journal: Therapeutic Archive. 2016;88(10): 57‑62

DOI: 10.17116/terarkh201688657-62

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To cite this article:

Mamedova EO, Mokrysheva NG, Pigarova EA, et al. . CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases. Therapeutic Archive. 2016;88(10):57‑62. (In Russ.)
https://doi.org/10.17116/terarkh201688657-62

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Abstract:

The article describes two clinical cases of severe primary hyperparathyroidism (PHPT) caused by parathyroid carcinoma in young female patients who underwent molecular genetic testing to rule out the hereditary forms of PHPT. In both patients, heterozygous germline nonsense mutations of tumor suppressor gene CDC73 encoding parafibromin (p.R91X and p.Q166X) were identified using next-generation sequencing with Ion Torrent Personal Genome Machine (Thermo Fisher Scientific - Life Technologies, USA). It is the first description of CDC73 mutations in Russia, one of the mutations is described for the first time in the world. Identification of germline mutations in the CDC73 gene in patients with PHPT necessitates regular lifelong screening for other manifestations of hyperparathyroidism-jaw tumor syndrome (HPT-JT), PHPT recurrence due to parathyroid carcinoma as well, and identification of mutation carriers among first-degree relatives.

Keywords:

primary hyperparathyroidism

hyperparathyroidism-jaw tumor syndrome

HPT-JT

CDC73

parafibromin

parathyroid carcinoma

next-generation sequencing

NGS

Authors:

Mamedova E.O.

FGBU "ndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF, Moskva

Mokrysheva N.G.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Pigarova E.A.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia RF, Moskva

Przhiialkovskaia E.G.

FGBU "ndokrinologicheskiĭ nauchnyĭ tsentr" Minzdrava RF, Moskva

Voronkova I.A.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Vasil’eva E.V.

Endocrinology Research Centre, Moscow, Russia

Petrov V.M.

Endocrinology Research Centre, Moscow, Russia

Gorbunova V.A.

FGBU "Rossiĭskiĭ onkologicheskiĭ nauchnyĭ tsentr im. N.N. Blokhina" RAMN

Rozhinskaia L.Ia.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Belaia Zh.E.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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References:

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