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Lynch syndrome in patients with upper urinary tract urothelial carcinoma: One centre study
BUCHOVÁ, Karolína
Lynch syndrome (LS) is an inherited autosomal dominant (AD) disease with predisposition for cancer development in different organs (large intestine, uterus, upper urinary tract, etc.). Typically, young or middle age individuals are affected by cancer. Presented bachelor thesis summarizes the current knowledge about LS in patients with urothelial carcinoma (UC) of the upper urinary tract. We tried to determine the frequency of LS in patients with urothelial carcinoma of the upper urinary tract and design a suitable diagnostic algorithm how to identify suspect patients appropriate for further genetic testing. In the practical part of the thesis, we searched for all patients treated on Urology department Faculty Hospital in Pilsen for UC of the upper urinary tract in the time period I/2010 - XII/2018. All cases were re-evaluated. Immunohistochemical staining of MMR proteins (MLH1, PMS2, MSH2, MSH6) was performed in selected cases. Obtained data were evaluated statistically. We found 215 examinations/biopsies from 182 patients (58 UC of the ureter, 119 UC of the renal pelvis, 5 UC of both the ureter and the renal pelvis). 121 patients were examined by immunohistochemistry (44 UC of the ureter, 73 UC of the renal pelvis, 4 UC of both the ureter and the renal pelvis). Lost expression of some MMR protein was demonstrated in 9/121 examined cases. Definitive examination of peripheral blood for detection of germline mutation was performed in only two patients (2%). One patient (male, 71 years) has confirmed germline mutation of MSH6 gene from peripheral blood. The second patient (male, 73 years) is still waiting for a definitive confirmation of the diagnosis from peripheral blood (patient has a high suspicion for Lynch syndrome, he has personal history of colorectal carcinoma, deficiency of MSH6 protein expression was found in UC of upper urinary tract even in colorectal carcinoma). Based on here presented data, we recommend routine immunohistochemical staining of MMR proteins in all patients with UC of upper urinary tract, regardless of their age or medical history. Universal immunohistochemical screening in patients with UC of upper urinary tract is a good and yielding way how to identify suspicious patients for genetic testing of LS.
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Paraffin immunofluorescence, an ancillary technique in renal pathology - one center study
Buchová, Karolína ; Němečková, Ivana (advisor) ; Kudláčková, Zděnka (referee)
Charles University in Prague, Faculty of Pharmacy in Hradec Králové Department: Department of Biological and Medical Sciences Study program: Bioanalytical laboratory diagnostics in healthcare Author: Bc. Karolína Buchová Supervisior: RNDr. Ivana Němečková, Ph.D. Consultant: doc. MUDr. Kristýna Pivovarčíková, Ph.D. Title of Thesis: Paraffin immunofluorescence, an ancillary technique in renal pathology - one center study Background: Immunofluorescence analysis (IFLU) is routinely used to diagnose non-tumor renal diseases, and also has a place in renal transplant pathology. This examination is most often performed on frozen sections from non-fixed tissue. The next option where we could use the IFLU method is examination in formaldehyde-fixed tissues which are embedded in paraffin blocks. However, using the formaldehyde-fixed paraffin-embeded samples has its specifics and require a modification of the methodology and verification. This diploma thesis follows the differences in the processing of renal punctures when we use IFLU for frozen material (FIF) or IFLU for formalin-fixed and paraffin- embedded tissue (PIF) and comparison of the results obtained by both methods. Main findings: Immunofluorescence examination is very important part in examination of kidney biopsy obtained by puncture. The...
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