![Table 1](https://www.mjhid.org/mjhid/article/download/5767/version/2870/4584/46180/Table%201.jpg) |
- Table 1. Mutations detected at NGS
performed on patient peripheral blood in 2023 at diagnosis of myeloid
clonal disorder.
- The complete list of explored genes includes: ABL1,
ANKRD26, ARAF, ASXL1, BCOR, BLM, BRAF, CALR, CBL, CREBBP, CSF3R, DDX41,
DNMT3A, ERCC6L2, ETV6, EZH2, FLT3, GATA1, GATA2, HRAS, IDH1, IDH2,
IK21, JAK2, KDM6A, KIT, KRAS, MAP2K1, MPL, MYD88, NF1, NPM1NRAS, PHF6,
PPM1D, PRPF8, PTPN11, RB1, RUNX1SAMD9L, SETBP1, SF3B1, SH2BR, SMC1A,
SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, WT1, ZRSR2.
Genomic DNA from peripheral blood was isolated using the Maxwell®
system (Promega Corporation, Madison, WI, USA), and a total of 150 ng
was used to perform NGS analysis using DNA Prep with custom enrichment
panels (Illumina, San Diego, CA) covering 85 leukemia-associated genes.
Libraries were sequenced on a Miseq platform (Illumina) using v3
chemistry with 150 bp paired-end configuration.
Raw sequencing data generated were aligned against the Homo sapiens
(UCSC hf19) reference with BWA software and analyzed by using the
variant interpreter app in BaseSpace Sequence Hub (Illumina).
All samples had a coverage mean of >1000 reads and only variants
with an allele frequency (VAF) >5% were described. Synonymous
variants and known single nucleotide polymorphisms were excluded (based
on an overall population allele frequency >1% according to the
gnomAD database).
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