Document Detail

Peak incidence of pheochromocytoma and primary hyperparathyroidism in multiple endocrine neoplasia 2: need for age-adjusted biochemical screening.
MedLine Citation:
PMID:  23284010     Owner:  NLM     Status:  MEDLINE    
CONTEXT: In multiple endocrine neoplasia type 2, American Thyroid Association (ATA) management guidelines recommend continuous biochemical screening for pheochromocytoma and/or primary hyperparathyroidism. This implicit assumption of linear tumor development is difficult to reconcile with current thinking that cells accrue somatic mutations stochastically, yielding a bell-shaped distribution.
OBJECTIVE: This investigation aimed at evaluating the age distribution of pheochromocytoma and primary hyperparathyroidism in gene carriers at risk of developing multiple endocrine neoplasia type 2.
DESIGN: ATA class D, C, B, and A mutations, with or without pheochromocytoma and/or primary hyperparathyroidism, were plotted against carrier age at the time of diagnosis or last follow-up.
SETTING: The setting was a surgical referral center.
PATIENTS: Included were 474 carriers of ATA class D (37 patients), C (170 patients), B (112 patients), and A (155 patients) mutations. Eighty-four carriers (17.8%) developed pheochromocytoma (bilateral in 42 patients) and 20 carriers (4.2%) primary hyperparathyroidism.
INTERVENTIONS: INTERVENTIONS were adrenalectomy and/or parathyroidectomy.
MAIN OUTCOME MEASURES: Main outcome measures were multiple endocrine neoplasia type 2-associated tumors.
RESULTS: Bell-shaped age distribution curves were obtained for unilateral and bilateral pheochromocytoma (ATA class D, C, and B) and primary hyperparathyroidism (ATA class C and B). Owing to the rarity of events, the bell shape of the distribution curve was faint but consistent with a random distribution for ATA class A mutations (unilateral pheochromocytoma and primary hyperparathyroidism). With decreasing penetrance, the bell-shaped distribution curve, becoming narrower and flatter, shifted to the right toward higher age groups.
CONCLUSIONS: These data, revealing phases of greater amidst phases of lower penetrance, support adjustment of biochemical screening to carrier age and ATA class.
Andreas Machens; Kerstin Lorenz; Henning Dralle
Publication Detail:
Type:  Journal Article     Date:  2013-01-02
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  98     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-02-07     Completed Date:  2013-04-10     Revised Date:  2014-07-31    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  E336-45     Citation Subset:  AIM; IM    
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MeSH Terms
Adrenal Gland Neoplasms / genetics*,  pathology,  surgery
Age Factors
Aged, 80 and over
Child, Preschool
Hyperparathyroidism, Primary / genetics*,  pathology,  surgery
Middle Aged
Multiple Endocrine Neoplasia Type 2a / genetics*,  pathology,  surgery
Pheochromocytoma / genetics*,  pathology,  surgery
Retrospective Studies

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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