|
|
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.
|
guest ::
