title: Failure of pentagastrin-stimulated calcitonin testing in early manifestation of familial medullary thyroid cancer.
abstract: This case report describes three generations of a family with familial medullary thyroid cancer (RET gene mutation L790F). One of the three siblings-all of them carrier of the respective mutation-exhibited the absence of pathological basal and pentagastrin-stimulated calcitonin levels in spite of multifocal medullary thyroid microcancer. This case illustrates the challenge to consider the biological diversity of RET gene mutations in the clinical management of affected gene carriers.
authors.affiliation: Department of Nuclear Medicine and Endocrinology, Landeskrankenhaus, Paracelsus Private Medical University, Müllner Hauptstrasse 48, Salzburg, Austria. c.pirich@salk.at
authors.forename: Christian
authors.initials: C
authors.lastname: Pirich
authors.forename: Gundula
authors.initials: G
authors.lastname: Rendl
authors.forename: Cornelia
authors.initials: C
authors.lastname: Hauser-Kronberger
authors.forename: Ingrid
authors.initials: I
authors.lastname: Häusler
mesh_terms: D000328:Adult; D000368:Aged; D002116:Calcitonin / Q000097:blood*; D018276:Carcinoma, Medullary / Q000097:blood / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D055088:Early Detection of Cancer / Q000379:methods*; D005188:False Negative Reactions; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D010418:Pentagastrin; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D002116:Calcitonin; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D010418:Pentagastrin