Zane Cohen, MD, FACS, FRCS(C)
Thank you for asking me to give the Herand Abcarian Lecture. It is a great privilege for me. I have known Herand for many many years and have been thoroughly impressed by his knowledge, his energy and his commitment to excellence.
I have named my lecture "Privilege and Responsibility of a Surgeon: A 20- Year Journey." This is in keeping with the general theme of the ACS Clinical Congress. I will start my talk by giving you the background family information on Lynch syndrome, since I am a non-carrier of the Lynch syndrome. This has been an incredible journey for me to identify and attempt to reduce the mortality within our family, by identifying the pathogenic mutations responsible, and seeking and imploring family members to obtain treatment.
My family on my father's side, emigrated from the Ukraine. His two sisters immigrated to Israel, and the two brothers to Toronto. In the late 80's my aunt died of rectal cancer. Ten years later, her daughter died of rectal cancer. This twigged me to further identifying all of the members within our large family, which had spread throughout the globe, from Israel and Toronto to Sau Paulo in Brazil, and Los Angeles in California, and in Miami. I went back into our family history and tried to obtain pathological specimens, which we discovered we could. In the 1970's, my father's cousin, who actually sponsored him to come over from the Ukraine, was operated on at Mount Sinai Hospital in Toronto for colon cancer. Her specimen was still available, and thus started our journey of understanding Lynch syndrome within our family. The most recent family member in which I was involved was my sister's daughter. She had a one year history of menorrhagia and was finally diagnosed with dysplastic cells in her endometrium. This turned out to be a locally widespread cancer. She was operated on 13 years ago and a hysterectomy obviously was performed. Along with this she had a pelvic sidewall lymph node dissection. The specimen did not show any involvement of the peri-aortic nodes and she is alive and well at this time. I have developed a very strong bond with my niece, because in reality, I believe that I saved her life. It is very different, saving a family members' life, than any patient in which I have ever been involved over a 40 year period of time.
A little bit about Lynch syndrome, which is an inherited cancer susceptibility syndrome. It is autosomal dominant and contains mismatch repair genes (MMR), MLHI, MSH2, MSH6, PMS2 and EPCAM. Testing for this initially is with immunohistochemistry (IHC). This has become the standard of care to identify Lynch syndrome risk and possible treatment options. It is now performed in our Centre on every colorectal cancer that is removed and every hysterectomy specimen that is removed, no matter if there is a family history or not.
There are many non-colonic cancers within Lynch syndrome. Endometrial cancer is the most common, as was the case in our family. Endometrial cancer in my niece was the first to appear. This is a learning lesson in itself. It shows you that we must be responsible to know every cancer associated with Lynch syndrome, and take a detailed cancer history and not just a history of colon cancer. Colorectal cancer and endometrial cancer make up the vast majority of cancers. MLH1 and MSH2 make up the most common mismatch repair genes.
The talk will also go on to look at the cancer risk by MMR gene. It is certainly not the same, given the fact that the MLH1 and the MSH2 mismatch repair genes cause most of the cancers within Lynch syndrome. Surveillance for individuals who are at risk with first degree relatives having Lynch syndrome should be screened with colonoscopy every one to two years. This should begin two to five years before the youngest person diagnosed with colorectal cancer in the family. If known, surgery should be, colectomy and ileorectal anastomosis, or at least an extended resection. As far as endometrial cancer is concerned, screening should start at age 30 to 35, and risk reducing prophylactic hysterectomy and bilateral salpingo-oophorectomy should be undertaken in those who are carriers of the genes of the pathogenic mutations for Lynch syndrome after childbearing age, or by age 40, as the risk of cancer developing in this patient population is significantly greater after that particular age.
I have been involved in following our family for many years. I feel very strongly that it is the responsibility of every one of us to do as much as possible for our patients but also for our families. It has been extremely rewarding to be able to influence our family members to "get tested, get screened." Thank you again for the privilege of addressing you today.
