title: HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?
abstract: It is still debatable which is the best management to familial forms of hyperparathyroidism. Conservative, minimally invasive or aggressive surgical approaches have been proposed from different groups around the world. Our objective was to study the gene mutation, expression of HRPT2 and the clinical outcome after 32 years of follow-up in one Brazilian kindred with familial isolated hyperparathyroidism (FIHP). Clinical and biochemical data, direct sequencing of the HRPT2 gene, analysis of parafibromin expression using RT-PCR, and immunohistochemistry were done. A nonsense mutation was found in exon 1 (c.96G>A)(p.Trp32X) in all affected members studied. Using RT-PCR, mRNA transcription was altered with complete absence of both transcripts in tumor tissue. Immunohistochemical analysis of tumors showed loss of parafibromin immunoreactivity. In this kindred there was a high prevalence of recurrence (75%), or persistence after less than subtotal parathyroidectomy that led us to consider a more aggressive surgical approach should be discussed among the affected family members, once surgical criteria was met. We concluded that it is necessary to individualize the surgical approach for HRPT2-related hyperparathyroidism until we can gather a better phenotype-genotype correlation in larger series, to best define their treatment.
authors.affiliation: Departamentos de Farmácia, Belo Horizonte, MG, Brasil.
authors.forename: Leticia G
authors.initials: LG
authors.lastname: Silveira
authors.forename: Eduardo P
authors.initials: EP
authors.lastname: Dias
authors.forename: Bruna C G
authors.initials: BC
authors.lastname: Marinho
authors.forename: Ricardo S
authors.initials: RS
authors.lastname: Gomez
authors.forename: Luiz
authors.initials: L
authors.lastname: De Marco
authors.forename: Marta S
authors.initials: MS
authors.lastname: Sarquis
mesh_terms: D000236:Adenoma / Q000235:genetics* / Q000601:surgery; D000293:Adolescent; D000328:Adult; D000368:Aged; D018389:Codon, Nonsense; D003657:Decision Making; D013507:Endocrine Surgical Procedures / Q000379:methods; D005260:Female; D015870:Gene Expression; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics* / Q000601:surgery; D008297:Male; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local; D010282:Parathyroid Neoplasms / Q000235:genetics* / Q000601:surgery; D010375:Pedigree; D012333:RNA, Messenger / Q000032:analysis; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C454900:CDC73 protein, human; D018389:Codon, Nonsense; D012333:RNA, Messenger; D025521:Tumor Suppressor Proteins