TruSight Myeloid Sequencing Panel from Illumina is used for massively parallel sequencing of hotspots within 54 myeloid-related genes, including CEBPA.
Recurrent mutations in genes coding for the spliceosome protein complex, epigenetic regulation, histone modification, signal transduction, cell surface receptors, and transcription factors have been identified in a wide variety of myeloid disorders, including acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), myelodysplastic/myeloproliferative disorders and myeloproliferative disorders (MPN). Depending on the particular disease context, these mutations may carry diagnostic, therapeutic and/or prognostic implications. Some genetic alteration such as IDH and FLT3 can be used as therapeutic targets.
AML classification per 2017 WHO criteria include cases with mutated NPM1, biallelic mutation of CEBPA or mutated RUNX1 (provisional entity) as diagnostic entities. As per 2018 NCCN guidelines and 2017 ELN recommendations AML cases can be further risk stratified based on certain mutations (FLT3, RUNX1, ASXL1, TP53, NPM1 and KIT). Mutations in the FLT3 and IDH genes have FDA approved targeted therapy.
Several gene mutations have been recognized in patients with MDS including those with normal cytogenetics. This may contribute to the clinical heterogeneity of the disease course and prognosis. The most frequently mutated genes include TET2, SF3B1, RUNX1, TP53, U2AF1, EZH2, ZRSR2, STAG2, CBL, NRAS, JAK2, SETBP1, IDH1, IDH2, and ETV6. Several of these are associated with adverse clinical features. Mutations of TP53, EZH2, ETV6, RUNX1, and ASXL1 have been shown to predict decreased overall survival in multivariable models adjusted for IPSS-R risk group. Mutations in SF3B1 have been associated with a more favorable prognosis. In addition, some mutations have been shown to impact the response to hypomethylating agents such as TET2 mutations. Certain gene mutations including RUNX1, ETV6, and CEBPA can be seen as a part of hereditary myeloid malignancies.
2017 WHO diagnostic criteria for myeloproliferative disorders include molecular testing for JAK2, CALR, and MPL. In addition, mutations in other genes such as ASXL1, EZH2, TET2, IDH1, IDH2, SRSF2, TP53 and SF3B1 may help determine the clonal nature of the disease and predict prognosis.
Mutations in some of the genes can be seen in the setting of age-related clonal hematopoiesis of indeterminate potential (CHIP). The most frequently mutated genes associated with CHIP include DNMT3A, TET2, ASXL1, RUNX1, JAK2, PPM1D, TP53, and splicing factor genes.
Next-generation sequencing of DNA variants within 54 genes is used by Illumina TruSight Myeloid Sequencing Panel.
1 ml of blood or bone marrow in an EDTA lavender top tube
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