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From medical history and biochemical tests to presymptomatic treatment in a large MEN 2A family *
Author(s) -
LIPS C. J. M.,
LANDSVATER R. M.,
HÖPPENER J. W. M.,
GEERDINK R. A.,
BLIJHAM G. H.,
VEEN J. M. JANSENSCHILLHORN,
FELDBERG M. A. M.,
GILS A. P. G.,
HOOGENBOOM H.,
BERENDS M. J. H.,
BEEMER F. A.,
AMSTEL H.K. PLOOS,
VROONHOVEN T. J. M. V.,
VROOM T. M.
Publication year - 1995
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/j.1365-2796.1995.tb01209.x
Subject(s) - medicine , family history , medical history , pheochromocytoma , urine , thyroid carcinoma , disease , physiology , pathology , endocrinology , thyroid
. An extensive study was published in 1959 in the Netherlands on a large family, which initially attracted attention because of a family history of attacks of shaking. Clinical investigation revealed phaeochromocytomas in four family members. In 1975, the family was identified to be a MEN 2A family, and since then, the members were examined annually using measurement of catecholamine metabolites in 24‐h excreted urine and C‐cell stimulation tests. In 1993, the RET proto‐oncogene on chromosome 10q11 was found to be associated with MEN 2A and a specific mutation in this gene was identified in the family. In this family, 32 MEN 2A patients were detected. Since screening started in 1975, no patient died of phaeochromocytoma; however, two patients died of metastasized medullary thyroid carcinoma (MTC) (mean age 46 years). Twelve patients were operated on for phaeochromocytoma, and 13 for MTC. The results of DNA‐analysis revealed the failures of the biochemical tests to identify affected family members. Six disease gene carriers with normal C‐cell stimulation test results appeared to have small multifocal MTCs. Two carriers with normal excretion levels of catecholamines had a small phaeochromocytoma. DNA‐analysis enables the unambiguous diagnosis of MEN 2A gene carriership, allowing presymptomatic surgery for MTC.