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CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ |
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| Česky / Czech version | Prakt. Lék., 2007, 87, No. 3, pp. 157-159 |
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Implication of molecular genetic examination in a Ihree generational family with multiple endoerine neoplasia type 2A HOLUB V.1, DVOŘÁKOVÁ Š.1, VÁCLAVÍKOVÁ E.1, RYŠKA A.2, ČÁP J.3, VLČEK P.4, DUŠKOVÁ J.5, KODETOVÁ D.6, NOVÁK Z.1, BENDLOVÁB.1 Endokrinologický ústav Ředitel: doc. MUDr Vojtěch Hainer, CSc. 2Fingerlandův ústav patologie, LF UK a FN Hradec Králové Přednosta: doc. MUDr. Aleš Ryška, PhD. 3II. interní klinika LF UK a FN Hradec Králové Přednosta: prof. MUDr. Jaroslav Malý, CSc. 4Klinika nukleární medicíny a endokrinologie, 2. LF UK a FN Motol Přednosta: doc. MUDr. Petr Vlček, CSc. 5Ústav patologie 1. LF a VFN Praha Přednosta: prof. MUDr. Ctibor Povýšil, DrSc. 6Ústav patologie a molekulární medicíny, 2. LF UK a FN Motol Přednosta: prof. MUDr. Roman Kodet, CSc. |
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Summary: Medullary thyroid cancer (MTC) is a rare form of thyroid cancer accounting for about 10 % of all thyroid malignancies. It oceurs mostly as a sporadic tumour or in association with autosomal dominant inherited cancer syndromes - multiple endoerine neoplasia (MEN) types 2A and 2B and familial MTC. Germline mutations in the RET proto-oneogene were found in most of the familial cases. Here we deseribe molecular genetic detection in one MEN2A family with three generations, where we found a double germline mutation in exons 10 (Cys620Phe) and 13 (Tyr791 Phe) of the RET proto-oneogene.
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