Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations

Surgery
Marta S SarquisLuiz De Marco

Abstract

Familial forms of hyperparathyroidism are responsible for approximately 10% of the cases of primary hyperparathyroidism, and their management is different from the sporadic forms. Our objective was to study the gene sequence and expression of HRPT2 and clinical outcome regarding recurrence or persistence rates in three Brazilian kindreds with familial hyperparathyroidism after up to 30 years of follow-up. Clinical and biochemical data, direct sequencing of germline DNA of the HRPT2 gene, and analysis of parafibromin expression (HRPT2 gene product) using RT-PCR and immunohistochemistry of resected parathyroid neoplasms were performed. Affected members of kindred A were found to carry a novel, germline, nonsense mutation in exon 1 (c.96G>A; W32X) of HRPT2. Six of seven patients who have undergone less than total parathyroidectomy recurred after up to 30 years of follow-up. An unrelated affected patient from kindred B had a germline mutation in exon 7 (c.686delGAGT), and the disease recurred with several pulmonary metastases after 5 years follow-up. The affected member of kindred C also had a previously described mutation in exon 7 (c.679delAG) and the disease recurred after 10 years of follow-up. All parathyroid neoplasms from th...Continue Reading

References

Jan 1, 1997·World Journal of Surgery·S M HuangO H Clark
Jun 17, 1998·The Journal of Clinical Endocrinology and Metabolism·B T TehC Larsson
Jan 14, 2000·The Journal of Clinical Endocrinology and Metabolism·M KassemB T Teh
Apr 19, 2000·The Journal of Clinical Endocrinology and Metabolism·C J HavenH Morreau
Dec 16, 2000·The New England Journal of Medicine·S J Marx
Apr 11, 2001·QJM : Monthly Journal of the Association of Physicians·B M CavacoR V Thakker
May 3, 2001·Medicina clínica·E Boix CarreñoA Picó Alfonso
Sep 6, 2002·European Journal of Endocrinology·Andrea VillablancaCatharina Larsson
Nov 1, 2002·Journal of Clinical Microbiology·René BoomMenno D De Jong
May 21, 2003·Journal of Internal Medicine·J D ChenB T Teh
Sep 10, 2003·Journal of Medical Genetics·V M HowellB T Teh
Oct 31, 2003·The New England Journal of Medicine·Trisha M ShattuckAndrew Arnold
Nov 18, 2003·Clinical Endocrinology·S MiedlichR Paschke
Jan 13, 2004·The Journal of Clinical Endocrinology and Metabolism·William F SimondsStephen J Marx
Aug 5, 2004·The Journal of Clinical Endocrinology and Metabolism·Carmen A CarrascoCarlos E Fardella
Oct 12, 2004·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Min-Han TanBin Tean Teh
Nov 9, 2004·The Journal of Clinical Endocrinology and Metabolism·Filomena CetaniClaudio Marcocci
Dec 21, 2004·Journal of Internal Medicine·K J BradleyR V Thakker
Dec 21, 2004·Journal of Internal Medicine·T Carling, R Udelsman
Feb 21, 2006·Clinical Endocrinology·K J BradleyR V Thakker

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Citations

Oct 2, 2013·Annals of Surgical Oncology·Schelto KruijffLeigh W Delbridge
Apr 1, 2014·Diagnostic Pathology·Ting-Ting WangTie-Jun Li
Jan 10, 2014·Endocrine Pathology·Anthony J Gill
Jun 17, 2009·Langenbeck's Archives of Surgery·Maurizio IacoboneGennaro Favia
Jan 21, 2014·Journal of Bone and Mineral Metabolism·Nikolaos PontikidesGerasimos Krassas
Dec 3, 2014·Surgery·Amit MehtaElectron Kebebew
May 18, 2010·Endocrine Pathology·C Christofer JuhlinCatharina Larsson
Oct 10, 2015·Langenbeck's Archives of Surgery·Maurizio IacoboneMenno Vriens
Nov 4, 2010·Current Problems in Surgery·Joel T AdlerHerbert Chen
Jan 27, 2009·Surgery·Maurizio IacoboneGennaro Favia
Mar 21, 2016·Endocrine Pathology·Virginia BellidoSonia Gaztambide
Nov 28, 2009·Annales d'endocrinologie·N RekikM Abid
Feb 18, 2011·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Ariana R Pichardo-LowdenMaria J Baker
Apr 26, 2015·Annales d'endocrinologie·Daniela BeteaAlbert Beckers
Mar 5, 2013·Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology·Ana Carolina de Mesquita NettoCarolina Cavaliéri Gomes
Jan 27, 2009·Arquivos brasileiros de endocrinologia e metabologia·Leticia G SilveiraMarta S Sarquis
Dec 15, 2017·Histopathology·Ronald A DeLellis, Shamlal Mangray
Jul 4, 2012·Nature Reviews. Endocrinology·Klaus-Martin Schulte, Nadia Talat
Jan 13, 2018·The American Journal of Surgical Pathology·Anthony J GillRoderick J Clifton-Bligh
Jun 19, 2013·The Journal of Clinical Endocrinology and Metabolism·Stephen J Marx
Sep 8, 2017·Human Mutation·Luís CardosoRajesh V Thakker
Jan 14, 2020·International Journal of Endocrinology·Francesca Torresan, Maurizio Iacobone

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