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Laboratory diagnosis of pheochromocytoma
Chlupáčová, Tereza ; Bílek, Radovan (advisor) ; Švandová, Ivana (referee)
1 Phaeochromocytomas are tumors predominantly rare to chromaffin tissue in adrenal glands' medulla. Tumors in the extra-adrenal chromaffin tissue are called paragangliomas. Phaeochromocytomas cause secretion of high amounts of catecholamines, which can lead to fatal consequences if not medically treated. The aim of this thesis is to summarize the so far known facts about this severe disease in a written review. The first part of the study focuses on issues of phaeochromocytoma research and lists general information about these tumors and their clinical manifestations. The importance of genetic influence in connection with treatment strategies for patients with phaeochromocytoma is also discussed. The second part of the thesis summarizes procedures and methods used in laboratory diagnostics of phaeochromocytomas. The conclusion briefly describes the possibilities of tumor localization using imaging technologies and procedures of subsequent treatment of patients with phaeochromocytoma.
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Possibilities of genetic testing in patients with pheochromocytoma and paraganglioma.
Turková, Hana ; Zelinka, Tomáš (advisor) ; Malík, Jan (referee) ; Fryšák, Zdeněk (referee)
1. Abstract Pheochromocytoma/ paraganglioma (FEO/PGL) may be developed on the basis of an inherited genetic mutation of different genes. They are associated with a high risk of developing of secondary hypertension, organ damage and metastatic disease that can be fatal. The aim was to focus on the possibility of genetic testing in patients with FEO/PGL, especially in patients with malignant tumors. The issue FEO/PGL, however, concerns not only the examination and assessment of risks arising therefrom, as well as other therapies and monitoring, including appropriate recommendations for clinical practice. We demonstrated a 20% incidence of cardiovascular (CV) complications before determining the final diagnosis of FEO/PGL, mainly arrhythmic, followed by complications of myocardial ischemia and accentuate atherosclerosis. Elevated levels of vitamin C and decreased levels of malondialdehyde (MDA) following the successful removal of the tumor demonstrated reduction of oxidative stress postoperatively. We found that early postoperative testing of levels of plasma metanephrines to confirm the success of surgical removal of FEO/PGL is already possible, since there was no significant correlation between plasma levels of metanephrines and postoperative examination interval. Distribution of frequency of metastatic...
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Molecular biological analysis of pheochromocytoma and paraganglioma.
Musil, Zdeněk ; Hirschfeldová, Kateřina (advisor) ; Zamrazilová, Hana (referee) ; Uhrová Mészárosová, Anna (referee)
This work summarizes the results of a research inquiring into relatively rare neuroendocrine tumors - pheochromocytomas and paragangliomas (PHEO/PGL) These tumors may arise on a hereditary genetic predisposition basis. On that account we primarily focused on a genetic examination of patients with PHEO/PGL. Methods for diagnostics of changes in SDHD, SDHB and RET genes were implemented. The number of examined genes has been (and is still being) extended. Currently we are investigating these genes: ATRX, BRAF, CDH1, CDKN2A, CDKN2B, FGFR1, FH, FHIT, GNAS, HIF2A (EPAS1), H-RAS, IDH1, IDH2, KIF1Bß, KMT2D, K-RAS, MAML3, MAX, MDH2, MET, NF1, NGFR, N-RAS, PHD2/EGLN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TERT, TMEM 127, TP53 and VHL, using next generation sequencing. The number of variations of the above mentioned genes is different (23%) in Czech patients with PHEO/PGL in comparison with some foreign studies (27%, 40%). This may be caused by geographical influences or selection of patients. PHEO/PGL occur mainly (75%) in a benign form. A malignant form may be indicated by the presence of chromaffin tissue in locations where these tumors do not usually occur - liver, lungs, bones. In our study we focused on characteristics indicating the malignancy, for example, the lower age of patients with the first manifestation...
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Possibilities of genetic testing in patients with pheochromocytoma and paraganglioma.
Turková, Hana ; Zelinka, Tomáš (advisor) ; Malík, Jan (referee) ; Fryšák, Zdeněk (referee)
1. Abstract Pheochromocytoma/ paraganglioma (FEO/PGL) may be developed on the basis of an inherited genetic mutation of different genes. They are associated with a high risk of developing of secondary hypertension, organ damage and metastatic disease that can be fatal. The aim was to focus on the possibility of genetic testing in patients with FEO/PGL, especially in patients with malignant tumors. The issue FEO/PGL, however, concerns not only the examination and assessment of risks arising therefrom, as well as other therapies and monitoring, including appropriate recommendations for clinical practice. We demonstrated a 20% incidence of cardiovascular (CV) complications before determining the final diagnosis of FEO/PGL, mainly arrhythmic, followed by complications of myocardial ischemia and accentuate atherosclerosis. Elevated levels of vitamin C and decreased levels of malondialdehyde (MDA) following the successful removal of the tumor demonstrated reduction of oxidative stress postoperatively. We found that early postoperative testing of levels of plasma metanephrines to confirm the success of surgical removal of FEO/PGL is already possible, since there was no significant correlation between plasma levels of metanephrines and postoperative examination interval. Distribution of frequency of metastatic...
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Laboratory diagnosis of pheochromocytoma
Chlupáčová, Tereza ; Bílek, Radovan (advisor) ; Švandová, Ivana (referee)
1 Phaeochromocytomas are tumors predominantly rare to chromaffin tissue in adrenal glands' medulla. Tumors in the extra-adrenal chromaffin tissue are called paragangliomas. Phaeochromocytomas cause secretion of high amounts of catecholamines, which can lead to fatal consequences if not medically treated. The aim of this thesis is to summarize the so far known facts about this severe disease in a written review. The first part of the study focuses on issues of phaeochromocytoma research and lists general information about these tumors and their clinical manifestations. The importance of genetic influence in connection with treatment strategies for patients with phaeochromocytoma is also discussed. The second part of the thesis summarizes procedures and methods used in laboratory diagnostics of phaeochromocytomas. The conclusion briefly describes the possibilities of tumor localization using imaging technologies and procedures of subsequent treatment of patients with phaeochromocytoma.
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