Over the past decade, diagnosis, testing, and prognostic stratification have substantially improved, leading to revisions in guidelines from both the International Workshop on CLL and the National Comprehensive Cancer Network (NCCN). Among the most significant changes is the increasing essential prognostic role of the immunoglobulin heavy-chain variable (IGHV) mutational status and the clinical relevance of genomic alterations found in CLL. This article reviews updates in CLL prevalence and diagnosis, with an emphasis on testing options in the USA.
The article covers Immunophenotyping, FISH, TP53, IGHV Mutational Status, CpG-Stimulated Metaphase Karyotype and more.
With CpG can they tell if there are biallelic deletions?
Also, are there cut offs like in FISH to know if something is clinically significant?
Bone marrow result said 9 of 10 had an 11q deletion. Expected. Two of these metaphases had trisomy 12 and another two metaphases with an 11q deletion had additional structural abnormalities. I guess simple math in my head I can figure out percentage.
FISH on the marrow said trisomy 12 "normal" since below cut off I suppose. Makes it a little confusing.
So much of the results of that testing depends on which lymphs are sampled, in that only sampling a few cells out of the millions that are present can lead to error.
FISH is slightly different and is automated so more cells examined with specific probes but karyotypic analysis is time consuming and subjective (although it is beginning to be automated) with only a few cells checked.
Informative article. I was tested for karyotype which showed simple. For those reading the b-2 microglobulin inclusion, mine was slightly higher than the normal range but that is considered a plus for my age, over 65, by OSU. It is always tricky reading these findings since there are variables for each patient. It is encouraging to see how they are fine tuning their guidelines.
I read article above and it is not uplifting at all. I feel there is a paradigm shift but that article is focused on old data. It was depressing to me.
Hopefully more patients will get NGS in the near future as the prices comes down and ease of use goes up. Here’s a paper, it’s from 2017 but still useful
Thanks much. CLL Update is very timely. I see my CLL specialist in about 4 weeks. This review article will help me craft better questions to ask Dr. Furman.
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