Postby boxhill » Sun Jun 24, 2018 6:53 am
The testing done for my initial pathology report tested the tumor for proteins of the four MMR genes commonly related to Lynch. This appeared to be their standard practice: I don't think anyone ordered it. It may be that they do it on right-sided tumors in particular. I didn't think to ask about it. They also tested for BRAF and CEA. Having detected a malfunction of MLH1, the report recommended further testing to identify Lynch status.
The oncology practice has genetic counselling, which recommended further genetic testing of the tumor and of my blood, to determine whether this was a sporadic mutation in this tumor, or a germline mutation (ie, Lynch). The blood test is what determines whether it is germline of sporadic. Luckily, mine is sporadic. (Unfortunately, they found a different germline mutation, ATM, which is associated with a higher risk of breast and prostate cancer, amongst other things, but that's another story.)
I found some articles that talked about the right vs left mystery. It seems that right-sided tumors are for various reasons less likely to respond to EFGR pathway treatment. (On a personal level, I take comfort in the fact that my micro satellite instability and level of mutations is extremely high, so I am more likely to have a good response to Keytruda, should we get to that point.)
F, 64 at DX CRC Stage IV
3/17/18 blockage, r hemi
11 of 25 LN,5 mesentery nodes
5mm liver met
pT3 pN2b pM1
BRAF wild, KRAS G12D
dMMR, MSI-H
5/18 FOLFOX
7/18 and 11/18 CT NED
12/18 MRI 5mm liver mass, 2 LNs in porta hepatis
12/31/18 Keytruda
6/19 Multiphasic CT LNs normal, Liver stable
6/28/19 Pause Key, predisone for joint pain
7/31/19 Restart Key
9/19 CT stable
Pain: all fails but Celebrex
12/23/19 CT stable
5/20 MRI stable/NED
6/20 Stop Key
All MRIs NED