Barbara Dewaele

Keywords synonymous mutations non-coding mutations melanoma functional genomics CRISPR-Cas9 gene regulation bioinformatics mutation annotation expressed transcript Introduction Next-generation sequencing technologies have revolutionized the detection of mutations in cancer samples. Currently, the majority of clinicians and scientists interpreting cancer sequencing results only consider mutations that alter the amino acid sequence of proteins.

Conflicts of Interest The authors declare no conflicts of interest. References 1, , , et al., “The 5th Edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms,” Leukemia 36, no. 7 (2022): 1703–1719. 2, , , et al., “International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: Integrating Morphological, Clinical, and Genomic Data,” Blood 140, no. 11 (2022): 1200–1228, https://doi.org/10.1182/blood.2022015850.

Dear Editor, Fluorescence in situ hybridization (FISH) is the gold standard technique for cytogenetic assessment in chronic lymphocytic leukemia (CLL). In addition, chromosome banding analysis (CBA) is recommended as part of testing to detect complex karyotypes (CK, ≥ 3 abnormalities in the same cell clone), especially as those with a high-CK (≥ 5 abnormalities) have a known worst outcome [1, 2].