[Predictive genetic investigations. Individualization of diagnosis and treatment in families with XXXX ].

@entity1 @entity8958 @entity5 @entity1373 @entity13081 @entity259
BACKGROUND AND OBJECTIVE: When @entity13081 ( @entity13081 ) is suspected, genetic tests are at the centre of screening procedures. It was the aim of this study to compare the diagnostic value of molecular biological investigations with that of conventional biochemical tests. @entity1 AND METHODS: The study cohort consisted of all 144 @entity1 cared for in our department since 1990 with the suspected diagnosis of @entity13081 (evidence of a @entity259 [ @entity259 ]), coexistence of two @entity5 or a family history of @entity13081 . 14 of the 144 @entity1 (from 12 families) were already known to have an hereditary @entity259 , while the remaining 130 had been referred for further diagnostic investigations. RESULTS: An hereditary @entity259 was diagnosed in 22 of the 130 @entity1 , a sporadic @entity259 in 32, while no definitive classification was possible in 20 @entity259 @entity1 without a positive family history and on whom no mutation analysis had been performed. @entity13081 was excluded in 56 family members. All 22 @entity1 with newly diagnosed @entity259 had abnormally high calcitonin levels. A germ-line mutation in the @entity8958 proto-oncogene was found in 8 of the 9 families who had undergone molecular biological tests. The investigate results led to a thyroidectomy in 19 of the 22 @entity1 with hereditary @entity259 ; in all of them the surgical specimen showed @entity1373 and/o @entity259 . CONCLUSION: These results emphasize the importance of genetic tests in family screening. Preoperative measurement of calcitonin remains essential in @entity13081 families in whom a germ-line mutation is not known. The choice of the appropriate diagnostic test must be individualized to the particular @entity1 so that optimal results are obtained.
