Losses in 13q as a sole abnormality confer a good prognosis in chronic lymphocytic leukaemia (CLL). Nevertheless, its heterogeneity has been demonstrated and the clinical significance of biallelic 13q deletions remains controversial. We compared the clinico-biological characteristics of a series of 627 patients harbouring isolated 13q deletions by fluorescence in situ hybridization (FISH), either monoallelic (13q × 1), biallelic (13q × 2), or the coexistence of both clones (13qM). The most frequent 13q deletion was 13q × 1 (82·1%), while 13q × 2 and 13qM represented 8·6% and 9·3% of patients respectively. The median percentage of altered nuclei significantly differed across groups: 55%, 72·5% and 80% in 13q × 1, 13q × 2 and 13qM (P < 0·001). However, no significant differences in the clinical outcome among 13q groups were found. From 84 patients with sequential FISH studies, eight patients lost the remaining allele of 13q whereas none of them changed from 13q × 2 to the 13q × 1 group. The percentage of abnormal cells detected by FISH had a significant impact on the five-year cumulative incidence of treatment and the overall survival, 90% being the highest predictive power cut-off. In conclusion, loss of the remaining 13q allele is not enough to entail a worse prognosis in CLL. The presence of isolated 13q deletion can be risk-stratified according to the percentage of altered cells.
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http://dx.doi.org/10.1111/bjh.12479 | DOI Listing |
Lymphatics
June 2024
The Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY 11030, USA.
CLL B cells express elevated pro-survival BCL2, and its selective inhibitor, venetoclax, significantly reduces leukemic cell load, leading to clinical remission. Nonetheless, relapses occur. This study evaluates the hypothesis that progressively diminished BCL2 protein in cycling CLL cells within patient lymph node niches contributes to relapse.
View Article and Find Full Text PDFMedicine (Baltimore)
November 2024
Hematologic Disease Center, The First Affiliated Hospital of Xinjiang Medical University, Xinjiang Uygur Autonomous Region Research Institute of Hematology, Urumqi, China.
Rationale: Primary plasma cell leukemia is a rare and highly aggressive malignancy of the blood system, with rapid disease progression and a high early mortality rate. Currently, there is no recognized therapeutic regimen, leading to the adoption of strategies typically utilized for multiple myeloma, which, however, exhibit limited efficacy. Selinexor is considered effective in treating relapsed/refractory multiple myeloma, but there are currently no reports on its application in primary plasma cell leukemia.
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November 2024
Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
bioRxiv
October 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Optimizing prevention and early detection of cancer requires understanding the number, types and timing of driver mutations. To quantify this, we exploited the elevated cancer incidence and mutation rates in germline and carriers. Using novel statistical models, we identify genomic deletions as the likely rate-limiting mutational processes, with 1-3 deletions required to initiate breast and ovarian tumors.
View Article and Find Full Text PDFBr J Dermatol
October 2024
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
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