Myeloid leukemia covers a spectrum of diseases characterized by an abnormal increase in immature myeloid white blood cells including AML, CML, ALL, CLL and other leukemias. These diseases are highly heterogeneous which requires fine risk stratification to get optimal clinical outcome of patients. Common initiating events for leukemia carcinogenesis are upregulation of survival genes and dysregulation of cell growth. Hotspot mutations are traditionally examined in single-gene or single-mutation assays. Due to the nature of these diseases, the simplex assays cannot efficiently characterize a complete profile of the disease or sensitively monitor residual diseases. Taking advantage of the multiplex technology Next-Generation Sequencing (NGS) as well as the growing molecular evidence in these diseases, NGS panels have been suggested and utilized in clinical societies, including multiple cancer guidelines established by National Comprehensive Cancer Network (NCCN). Our current NGS panel is using Thermofisher sequencing platform and QIAGEN QIAseq library construction chemistry to examine the following 64 genes for myeloid neoplasms.
ABL1 |
CBL |
EGFR |
IDH1 |
KMT2A |
PHF6 |
SF1 |
STAG2 |
ASXL1 |
CBLB |
ETV6 |
IDH2 |
KRAS |
PRPF40B |
SF3A1 |
SUZ12 |
ATM |
CDKN2A |
EZH2 |
IKZF1 |
MPL |
PTEN |
SF3B1 |
TET2 |
ATRX |
CEBPA |
FBXW7 |
JAK1 |
NF1 |
PTPN11 |
SH2B3 |
TP53 |
BCOR |
CSF3R |
FLT3 |
JAK2 |
NOTCH1 |
RAD21 |
SMARCB1 |
U2AF1 |
BCORL1 |
DAXX |
GATA1 |
JAK3 |
NPM1 |
RB1 |
SMC1A |
U2AF2 |
BRAF |
DNMT3A |
GNAS |
KAT6A |
NRAS |
RUNX1 |
SMC3 |
WT1 |
CALR |
EED |
HRAS |
KIT |
PDGFRA |
SETBP1 |
SRSF2 |
ZRSR2 |