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The Role of Demographic and Clinical Factors in Germline Mutation Testing for Patients with Primary Hyperparathyroidism.
Hangge, Patrick T; Dream, Sophie; Yen, Tina W F; Doffek, Kara; Stachowiak, Samantha M; Shaker, Joseph; Evans, Douglas B; Wang, Tracy S.
Afiliação
  • Hangge PT; Division of Surgical Oncology, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Dream S; Division of Surgical Oncology, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Yen TWF; Division of Surgical Oncology, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Doffek K; Division of Surgical Oncology, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Stachowiak SM; Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Shaker J; Division of Endocrinology, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Evans DB; Division of Surgical Oncology, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Wang TS; Division of Surgical Oncology, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA. tswang@mcw.edu.
Ann Surg Oncol ; 31(6): 3964-3971, 2024 Jun.
Article em En | MEDLINE | ID: mdl-38459417
ABSTRACT

INTRODUCTION:

Guidelines recommending genetic counseling in primary hyperparathyroidism (PHPT) vary. To further delineate current recommendations, this study examined genetic counseling referral patterns and rates of mutations in surgical patients with PHPT. PATIENTS AND

METHODS:

A single-institution review was performed of adult patients who underwent parathyroidectomy for presumed sporadic PHPT. Genetic testing indications of hypercalcemia onset ≤ 40 years, multigland disease (MGD), family history (FHx) of PHPT, or other clinical indications suspicious for a PHPT-related endocrinopathy were examined by demographics and mutation detection rates.

RESULTS:

Genetic counseling was performed in 237 (37.9%) of 625 patients. Counseling was discussed but not performed in 121 (19.4%) patients. No evidence was noted of genetic referral discussion in the remaining 267 (42.7%). Of these groups, patients who received genetic counseling were youngest, p < 0.001 [median age 55.3 (IQR 43.2, 66.7) years]. The majority of patients with indications of age ≤ 40 years (65.7%), FHx (78.0%), and other clinical indications (70.7%) underwent genetic counseling, while most with MGD (57.0%) did not. Eight mutations were detected in 227 patients (3.5%). Mutations included MEN1 (n = 2), CDC-73 (n = 4), and CASR (n = 2). Detection was most common in patients with FHx (4/71, 5.6%), then age ≤ 40 years (3/66, 4.5%), and other clinical indications (3/80, 3.8%). No mutations were identified in 48 patients tested solely for MGD.

CONCLUSIONS:

Most patients with onset of hypercalcemia age ≤ 40 years, positive FHx, or other clinical concerns underwent genetic counseling, while most with MGD did not. As no germline mutations were identified in patients with MGD alone, further investigation of MGD as a sole indication for genetic counseling may be warranted.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Paratireoidectomia / Mutação em Linhagem Germinativa / Hiperparatireoidismo Primário / Aconselhamento Genético Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Paratireoidectomia / Mutação em Linhagem Germinativa / Hiperparatireoidismo Primário / Aconselhamento Genético Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2024 Tipo de documento: Article