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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:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Andreas Machens; Kerstin Lorenz; Henning Dralle
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-2
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  -     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of General, Visceral, and Vascular Surgery, Martin Luther University Halle-Wittenberg, D-06097 Halle (Saale), Germany.
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