Clinical genetics of medullary thyroid carcinoma
Journal Title: Postępy Nauk Medycznych - Year 2010, Vol 23, Issue 11
Abstract
Medullary thyroid carcinoma (MTC) is neuroendocrine malignant neoplasm, arising from the parafollicular thyroid cells. These cells arising from the neural crest, migrating from the fifth branchial cleft into thyroid gland during the embryogenesis, where the calcitonin hormone is producing by them. Calcitonin is the peptide hormone, facilitating calcium transition from the blood to the bones.Medullary thyroid carcinoma occurs in the sporadic and hereditary form, which presence is connected with proto-oncogene RET mutations. Hereditary form of MTC can be divided into familial medullary thyroid carcinoma (FMTC) without any endocrinopathies and, more frequently, as a part of multiple endocrine neoplasia type 2 (MEN 2).Multiple endocrine neoplasia type 2A (MEN 2A), named as Sipple syndrome also, can be characterized as presence of MTC and pheochromocytoma (in about 50% of patients) and parathyroid adenomas or hyperplasia (15-25% of patients). Recognition of syndrome MEN2B is more unequivocal because of characteristic clinical status and characteristic mutations. In this syndrome, MTC develops the most quickly, even in young children. Pheochromocytomas occur later and in the half of patients, parathyroid adenomas are absent.In this paper actual state of knowledge about the molecular basis of hereditary form of MTC and dependence between localization of RET mutations and clinical disease status are presented. Diagnostic and therapeutic procedures in hereditary form of MTC and the way of proceeding in the case of RET mutation presence are discussed Short guidelines about management in the case of hereditary form of MTC are presented also.
Authors and Affiliations
Barbara Jarząb, Jan Włoch, Zbigniew Wygoda
Keywords
Related Articles
- EP ID EP53776
- DOI -
- Views 165
- Downloads 0
Przestrzeganie zasad leczenia – czy jest problemem u osób w wieku podeszłym?
Choroby przewlekłe wymagają systematycznej terapii wg wskazań i zaleceń lekarza (compliance) przez długi okres czasu (persistance), czyli przestrzegania procedur długoterminowego leczenia (adherence) w celu minimalizacji...
Coronary artery disease in young age as the effect of cooperation between genetic and environmental factors
Myocardial infarction in young age is a growing medical and social problem in last decades. The explanation of the genetic background of this phenomenon remains still a serious challenge.Several single nucleotide polimor...
Hospital malnutrition – important health and economic problem
Nutritional status of patients in hospitals has a significant impact on the effectiveness of treatment, the incidence of complications, length of hospital stay and cost of treatment. Therefore an appropriate assessment o...
Osteoporoza oczami chirurga urazowego
Według współczesnej definicji osteoporoza jest chorobą charakteryzującą się obniżeniem wytrzymałości tkanki kostnej i w efekcie zwiększeniem ryzyka wystąpienia złamań. Złamania niskoenergetyczne są powszechne w populacji...
Czy zakażenie Helicobacter pylori u dzieci ma wpływ na wydzielanie ghreliny
<b>Wstęp.</b> <i>Helicobacter pylori</i> jest uznanym czynnikiem patogenetycznym chorób błony śluzowej żołądka. Może zatem wpływać na wydzielanie ghreliny określane...