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Age-adjusted biochemical screenings urged for pheochromocytoma, hyperparathyroidism
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The American Thyroid Association currently recommends continuous biochemical screening for pheochromocytoma or primary hyperparathyroidism in multiple endocrine neoplasia type 2. According to data from a study published in the Journal of Clinical Endocrinology and Metabolism, researchers suggest that biochemical screenings be age-adjusted based on greater risk for older age groups.
Researchers from the department of general, visceral and vascular surgery at Martin Luther University in Halle-Wittenberg, Germany, evaluated the age distribution of pheochromocytoma and primary hyperparathyroidism among 474 gene carriers suspected of being at risk for developing multiple endocrine neoplasia.
“Our finding of a bell-shaped distribution of MEN2-associated tumor development supports the current concept of causation in which activating RET mutations drive C-cell, adrenal medullary, and parathyroid hyperplasia and somatic mutations trigger the cellular transformation to [medullary thyroid cancer], pheochromocytoma, and parathyroid adenoma or hyperplasia,” the researchers wrote.
Of the patients included in the retrospective study, there were 37 carriers of ATA class D; 170 of class C; 112 of class B; and 155 of class A mutations. According to patient data, 84 carriers (17.8%) developed pheochromocytoma, which was bilateral in 42 patients, and 20 carriers (4.2%) developed primary hyperparathyroidism.
“Age at first parathyroidectomy for primary hyperparathyroidism was higher in carriers of ATA class A mutations than in their peers carrying ATA class C and B mutations (means of 54.5 vs. 39.6 years),” the researchers wrote.
They conclude that these findings across four levels of RET activation points toward a credible theory of random probability distribution of somatic mutations. Although biochemical screening is cost-effective, larger studies and annual screening intervals are needed, they wrote.
Disclosure: The researchers report no relevant financial disclosures.
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