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01.10.2012 | case report

Failure of pentagastrin-stimulated calcitonin testing in early manifestation of familial medullary thyroid cancer

verfasst von: Prof. Christian Pirich, M.D., Gundula Rendl, M.D., Cornelia Hauser-Kronberger, M.D., Ph.D., Ingrid Häusler, M.D.

Erschienen in: Wiener klinische Wochenschrift | Ausgabe 19-20/2012

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Summary

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.

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Elisei R, Romei C, Renzini G, Bottici V, Cosci B, Molinaro E, et al. The Timing of total thyroidectomy in RET gene mutation carriers could be personalized and safely planned on the basis of serum calcitonin: 18 years experience at one single center. J Clin Endocrinol Metab. 2012;97:426–435.

Frank-Raue K, Machens A, Scheuba C, et al. Difference in development of medullary thyroid carcinoma among carriers of RET mutations in codons 790 and 791. Clin Endocrinol. 2008;69:259–263.

Saller B, Görges R, Reinhardt W, Haupt K, Janssen OE, Mann K. Sensitive calcitonin measurement by two-site immunometric assays: implications for calcitonin screening in nodular thyroid disease. Clin Lab. 2002;48:191–200.

Titel: Failure of pentagastrin-stimulated calcitonin testing in early manifestation of familial medullary thyroid cancer
verfasst von: Prof. Christian Pirich, M.D.
Gundula Rendl, M.D.
Cornelia Hauser-Kronberger, M.D., Ph.D.
Ingrid Häusler, M.D.
Publikationsdatum: 01.10.2012
Verlag: Springer Vienna
Erschienen in: Wiener klinische Wochenschrift / Ausgabe 19-20/2012
Print ISSN: 0043-5325
Elektronische ISSN: 1613-7671
DOI: https://doi.org/10.1007/s00508-012-0241-y

Springer Medizin Österreich

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