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Update and Question


JoshK

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Hi All,

I just wanted to give you an update on my Mom and ask a very specific question.

My Mom continues to do very well with her small-cell lung cancer (SCLC): no side-effects of chemo other than hair loss and no symptoms of the cancer. After just 2 cycles of chemo, all that was left of her cancer were 2 tiny nodules (2mm and 5mm) which were stable after 4 cycles. A number of people on this forum as well as the doctors said that there is a likelihood that is just residual scar or dead tissue from the cancers, and that a PET scan likely wouldn't show anything more. Today we went for a second opinion at one of the very best hospitals, and they recommended consolidation radiation and said she seems to qualify for a clinical trial they will run offering radiation concurrently with a PARP inhibitor. The doctors said she is doing exceptionally well.

However, the doctor gave us a bit of potentially very encouraging and unexpected news. I've never heard of anything like this, so I wanted to see if anyone had even read about something similar.

After looking over the various records we passed him, and the doctor said he was surprised that the tests (not sure if he meant the pathology report or genetic sequencing) had a strange finding: The absence an RP (Dr. Google is indicating Ribosomal Protein) mutation. This RP acts as a tumor suppressor and is deleted or mutated in most cancerous tumors, which is why they proliferate. He was surprised enough by this to order a new pathology report by his institution. He said it was quite rare to find this (<1% of tumors). Given how tame (not growing or spreading quickly) my Mom's case of SCLC seems to be and some other odd findings (its peripheral location in the lungs, lack of symptoms, etc.), they had already ordered a secondary pathology report. If the pathologists come back again with the same results, this may explain why her SCLC seems to be so tame (not spreading quickly) and potentially indicate a strong relative prognosis.

Looking over the two reports - the pathology and genetic sequencing - I don't know what he's referring to. There are lots of proteins, genes and mutations listed, but I'm not seeing anything that fits - some of the mutations that are present are in tumor suppressing proteins...perhaps its the simple omission of this mutation that is leading him to question this?

Any ideas? Ever heard of anything like this?

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I'm glad to hear your mom is doing so well. I haven't hear of this absence of RP mutationn issue. Please let us know what you find out, both about your mom's pathology and genetics (as well as her treatment and progess) and also about this mutation generally.

Bridget O

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Josh,

I'm stumped.  Spent some time consulting Dr. Google but most of the information was dense genetics and microbiology that I'm not sure I understand well enough to render an opinion.

Stay the course.

Tom

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Ok, well update to the update. This is unusual enough that the doctor has ordered an even more comprehensive genetic test than Foundation One...for free! Will keep you posted.

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