@article{10.1182/bloodadvances.2023010753,
    author = {Teierle, Samantha M. and Huang, Ying and Kittai, Adam S. and Bhat, Seema A. and Grever, Michael and Rogers, Kerry A. and Zhao, Weiqiang and Jones, Daniel and Byrd, John C. and Avenarius, Matthew R. and Heerema, Nyla A. and Woyach, Jennifer A. and Miller, Cecelia R.},
    title = {Characteristics and outcomes of patients with CLL and CDKN2A/B deletion by fluorescence in situ hybridization},
    journal = {Blood Advances},
    volume = {7},
    number = {23},
    pages = {7239-7242},
    year = {2023},
    month = {11},
    abstract = {TO THE EDITOR:The CDKN2A and CDKN2B (CDKN2A/B) locus on 9p21, a tumor suppressor hub, is the second most common genetically inactivated region after TP53 in cancer.1CDKN2A/B deletion has been described in a wide variety of malignancies, including B-cell malignancies; acute lymphocytic leukemia and diffuse large B-cell lymphoma.1-6 In chronic lymphocytic leukemia (CLL), CDKN2A/B loss has been described in a small subset of patients, but its significance is not well understood. It has been reported as the most common acquired abnormality found in ∼19\% to 30\% of samples by single nucleotide polymorphism microarray or next-generation sequencing (NGS) at the time of transformation of CLL to an aggressive B-cell lymphoma (Richter transformation [RT]).7-12 Previously, loss of CDKN2A/B was thought to only occur at RT but was later reported in 13 patients with CLL with high-risk disease, defined by either TP53 aberration or refractory to purine analogs.7,9,10 Homozygous loss of CDKN2A/B has been described in 3 patients who acquired resistance to venetoclax.13 Most frequently, CDKN2A/B loss co-occurs with TP53 deletion, with the concurrent loss of both tumor suppressors being a potential pathway for RT.10,14 Because of the negative clinical impact of RT and the rarity of this genetic abnormality, we examined a large cohort of patients with CLL using fluorescence in situ hybridization (FISH) for CDKN2A/B deletion to identify the frequency of occurrence, population and genetic characteristics, and outcomes.},
    issn = {2473-9529},
    doi = {10.1182/bloodadvances.2023010753},
    url = {https://doi.org/10.1182/bloodadvances.2023010753},
    eprint = {https://ashpublications.org/bloodadvances/article-pdf/7/23/7239/2176218/blooda_adv-2023-010753-main.pdf},
}