4.7 Article

Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly

期刊

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
卷 105, 期 6, 页码 E2271-E2281

出版社

ENDOCRINE SOC
DOI: 10.1210/clinem/dgaa142

关键词

acromegaly; hyperparathyroidism; multiple endocrine neoplasia type 1 (MEN-1); MEN-1 phenocopy

资金

  1. Ipsen
  2. Wellcome Investigator Award
  3. National Institute for Health Research (NIHR) Senior Investigator Award
  4. NIHR Oxford Biomedical Research Centre Programme

向作者/读者索取更多资源

Context: Clinical multiple endocrine neoplasia type 1 (MEN-1) is diagnosed by the presence of at least 2 MEN-1-associated tumors. Many patients with acromegaly and clinical MEN-1 yield negative testing for MEN1 mutations. While cases of acromegaly and primary hyperparathyroidism (PHP) with negative genetic testing have been reported, its prevalence among patients with acromegaly is undetermined, and the clinical presentation has not been well characterized. Objectives: The main goals of this study are: (1) To determine the prevalence of clinical MEN-1 with PHP in patients with acromegaly and characterize their clinical features; and (2) to evaluate the genetic basis for the coexistence of acromegaly and PHP. Design: Retrospective record review and genetic analysis. Setting: Clinical Research Centers. Participants: 414 patients with acromegaly. Interventions: Clinical evaluation and DNA sequencing for MEN1, CDKN1A, CDKN1B, CDKN2B, CDKN2C, and A/P genes. Main outcome measurements: Clinical and genetic analysis. Results: Among patients with acromegaly, clinical MEN-1, as defined by the presence of at least one other MEN-1-associated tumor, was present in 6.6%. PHP occurred in 6.1%; more than half had parathyroid hyperplasia. DNA sequencing was unrevealing for genetic mutations, except for 1 case of a CDC73 mutation. Acromegaly was diagnosed at an older age with a higher prevalence of malignancies (specifically breast and thyroid) in patients with coexisting PHP than those with isolated acromegaly. Conclusions: A distinct phenotype is described in patients with clinical MEN-1 and negative genetic testing for mutations previously associated with this syndrome. Further studies are needed to identify other genes that may explain the association between PHP and acromegaly.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.7
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据