I am going to be in Baltimore in a couple of weeks and am thinking it might be a good idea to try to schedule a consultation. I live in Utah, am a physician who did pediatric residency at Johns Hopkins long ago, don’t know anyone outside of pediatrics there now. I have CHEK2c1100 deletion (blood test, Invitae) and high Decifer Score (I have a copy of the mRNA expression profile). I seek an MO with particular interest and knowledge about CHEK2 and its associated risks and treatment options. I can’t tell from reading if there are any centers or highly regarded MOs with special interest and active research in this or not. Aside the connection to Johns Hopkins and upcoming trip mentioned above, somewhere in California would certainly be easier for long-term follow-up. I also have a daughter who has inherited this mutation from me.
Feel free to skip this paragraph unless interested in more information about me (or see my Profile)! I was diagnosed at 62 years old with G9 adenocarcinoma (4+5 in 2 cores, the rest G7, one G6) in January, 2019, after three months of antibiotic treatment for suspected prostatitis. In otherwise good health and physical condition. PSA 9.2 at diagnosis, up from 7.6 three months earlier. Likely 1.2mm anterior R sacral met (inaccessible to biopsy) and possible 3mm posterior 11th rib met vs sclerotic cortex thickening from old trauma on bone scan, normal CT except defined high density 0.7mm L ilium lesion not seen on the bone scan, no bone uptake on Axumin but one radiologist thought 2 pelvic nodes were questionable while another thought they were normal, multiparametric MRI couldn’t find the sacral lesion, all nodes normal, L seminal vesicle hemorrhage, probable 0.7mm L ilium bone island. No visceral lesions on any imaging. Lupron 6-month shot (45mg) in late January, also started bicautamide at the same time, SBRT to rib, after 2 months on Lupron IMRT to pelvis including nodes and the sacral lesion, HDR brachytherapy to prostate and seminal vesicles on two days a week apart with adjuvant hyperthermia by Dr Hayes at Gamma West in May.
PSA was 0.25 at the start of IMRT, is now < 0.04, total T is 7. I am doing very well clinically other than my sacrum hurts a little sometimes, not just on the right. It has on and off for far longer than I have had prostate cancer but the new context makes me hyper-aware of it and worried.
Why seek a second MO opinion now? Well, I have unexplained elevated LFTs suggestive of hepatocellular injury (normal baseline pre-treatment)- initially thought due to bicalutamide plus inhibition of its metabolic pathway in the liver by grapefruit juice as upon discontinuing both at the start of May the LFTs dropped immediately and by 50% in 3 weeks- but on re-check another 3 weeks later they had gone up again though not to previous peaks, remain essentially unchanged since. Work-up has included liver ultrasound that was normal except “possible” fatty liver changes (not present on CT 3 months earlier), bilirubin and Alk Phos continue steadily normal, GGT normal, Hep B, HepC, HIV, CMV all negative, EBV serology at the least unusual if simply past infection in that Early Antigen and Nuclear Antigen (quite high) are both positive along with VCA IgG, while VCA IgM is negative. I am also lymphopenic s/p the pelvic IMRT (WBC 3.5-4.5k, lymphocytes 10-12% so ALC 400-500). I am exposed daily to kids sick with viral illnesses but have not gotten ill myself (yet). Zytiga has been suggested but was not done earlier because my local MO felt unsure as to whether I had bone mets or not, not started now by consultant MO at Huntsman- first visit two weeks ago- because of the elevated ALT (currently 211) and AST (currently 76) and potential hepatotoxicity of abiraterone. Further, if the EBV serology is due to sub-clinical reactivation of latent EBV I think the oral steroid that accompanies abiraterone could be a problem. Foundation One sequencing of the original biopsy was ordered two weeks ago.
Lutetium treatment at Johns Hopkins - 2nd dose
Johns Hopkins researcher revives old method for Covid-19
Mets to lungs and lymph nodes need some advice 
MO wants to switch me to Xtandi---I Need advice
