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I interviewed Dr. Ghia on testing standards in CLL at the 1st International Meeting of ERIC in Barcelona in the fall of 2018.
- All these tests in CLL must be standardized so we can count on the results from one lab to the next. This has been the work of ERIC for many years.
- It is critical to know P53 and 17p deletion status before starting any therapy for CLL.
- Patients with a mutation in the P53 gene and/or 17p deletion shouldn’t have chemotherapy as it won’t work because they lack the protein that causes programmed cell death or apoptosis in response to the genetic damage to the cancer cell from chemo or even radiation.
- P53 is a mutation in the gene that makes the protein and testing is done by next generation sequencing. This is often not done in the community.
- 17p deletion is where the short arm of the 17th chromosome is missing, and that’s where P53 lives. It is detected by FISH (fluorescent in situ hybridization), a more commonly done test.
- Both should be tested for as some patients have only P53 or 17p del and either alone is significant.
- ERIC has also been standardizing testing for detecting U-MRD or undetectable minimal residual disease and IgVH mutation status.
- Complex karyotype (the number and visual appearance of the chromosomes in the cell nuclei) is a marker for a poorer prognosis but research by ERIC has suggested there must be 5 or more chromosomal changes to be significant, not just 3 as previously thought.
- Research will direct what new tests will make a difference in how patients are treated.
Here is my interview with Dr. Ghia:
Stay strong. We are all in this together.
Brian Koffman MDCM (retired)