Genetic Differences in Kidney Cancer? So What or What’s UP?

A few years back, I attended a kidney cancer conference with a highly eminent kidney cancer doctor.  He opened his talk by saying he was no longer treating kidney cancer!  The room was stunned, patients already wondering where to go for the next appointment when he finished his statement. “From now on, I will be treating cancers of the kidney.”

Not a small distinction, and a great way to confuse the patient and the newly diagnosed, but is critical.

Just because some growth lands in the kidney, that growth is not the same person to person, and even not from kidney to kidney in one person. In the link below, CURE magazine, May 5, 2017,  interviews Dr. Marston Linehan who expands upon the history and future of this work, which I have used as the basis for this report.  This research started in the 1980s, when doctors and researchers noted that some families were at greater risk l to develop some growths and tumor, some of which ‘landed’ in the kidney.  The early work defined that disease, Von Hippel Lindau hereditary cancer syndrome as to its genesis–an inherited mutational tendency in the VHL gene.

http://www.curetoday.com/articles/expert-stresses-significance-of-genetic-differences-in-kidney-cancer

This research started in the 1980s, when doctors and researchers noted that some families were at greater risk l to develop some growths and tumor, some of which ‘landed’ in the kidney.  The early work defined that disease, Von Hippel Lindau hereditary cancer syndrome as to its genesis–an inherited mutational tendency in the VHL gene.  Given that clue, patients with kidney cancer but from this inherited tendency, most often had mutations in that same gene.  These were ‘sporadic’, out of the blue mutations, but that opened the door to treatment improvements.  About 90% of patients with the more common clear cell kidney cancer have a mutation in the VHL gene–but not due to any inherited tendency.  Much work has been done for these patients and less for those with the rarer cancers of the kidney.

AND…there are more inherited kidney cancers which also enlightened research.  One is PRCC, Papillary Renal Cell Carcinoma, defined in the 1990s.  The gene that drove this kidney cancer was MET, wh0se mutations make those patients “highly likely to develop bilateral, multifocal, Type I papillary kidney cancer,” per Dr. Marston Linehan of the National Cancer Institute.

Research is being done for these people, as well as those who are affected by the similar disease which is NOT inherited. There disease also comes from sporadic mutations, these from the same MET gene.  This work is critical, as the generally available treatments are not as effective with the rare RCCs.

Still another and challenging rare kidney cancer is HLRCC, or hereditary leiomyomatosis with renal cell carcinoma. Linehan says it is not uncommon, and can make the patient vulnerable to develop leiomyomas–particular kinds of growths–and an aggressive form of Type 2 papillary kidney cancer.  Quite different genes make this happen, which can be referred to as Krebs cyle enzyme mutation cancers.  Obviously, still quite different that the garden-variety clear cell RCC (ccRCC) and requiring quite a different approach as to treatment.

Though there are currently studies underway to find more appropriate therapies for these rarer forms of RCC, some with combinations of agents that have been developed earlier in the decade, and with agents that were not originally envisioned to be used with kidney cancer–oops, cancers of the kidney.

If you don’t really know the pathology of your tumor and its genetic drive, you don’t have a complete diagnosis.  And if you relatively young for kidney cancer, the 46 and under group, this is time to discuss it with your kidney cancer cancer of the kidney specialist.

PS According to Linehan, there are at least 13 different types of inherited kidney cancers, and at least 16 known genes that can cause cancer in the kidneys…lots to learn and to discuss with your doctors!

 

 

 

 

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Filed under genomics, Genomics & Genes, Newly Diagnosed, Rarer RCC Cancers, RCC Basics, Uncategorized

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