Myeloid Neoplasms Somatic Panel (Panel Contains 141 Genes)
Definition
Expanded (100+ gene) NGS panels used in myeloid neoplasms deepen diagnostic and prognostic evaluation compared to standard panels by also covering rarer driver mutations and copy number changes; they are used in molecular classification according to WHO/ICC 2022 criteria.
Gene/region examined
ASXL2, ATM, BRAF, CALR, CDKN2A, CREBBP, CRLF2, CSF3R, CTCF, DNM2, EGFR, EP300, FBXW7, GATA2, HNRNPK, HRAS, IKZF3, IL7R, KDM6A, KDR, KMT2C, LRRC4, MAP2K1, MLH1, MSH2, MSH6, NOTCH1, NTRK3, PAX5, PDGFRA, PMS2, PRAMEF2, PTEN, RELN, SMARCB1, ANKRD26, ASXL1, BCOR, BCORL1, BIRC3, CARD11, CBLC, CEBPA, CHEK2, CSF1R, DAXX, DDX41, DNMT1, ELANE, FLRT2, FLT3, GATA1, IDH1, IDH2, IKZF1, JAK1, JAK3, KIT, KMT2A, KRAS, MPL, MYC, NBN, NPM1, NRAS, NSD1, OR13H1, OR8B12, P2RY2, PCDHB1, PHF6, PRPF8, PTPN11, RAD21, RUNX1, SF1, SF3A1, SMC1A, SMC3, SRSF2, STAG2, STXBP2, U2AF1, U2AF2, WT1, ADA, BLM, KCNA4, KLHL6, NPAT, TAL1, TERT, SRP72, WAS, WRN, ABL1, RB1, TP53, LUC7L2, BCL6, BCR, GJB3, SH2D1A, ATRX, ETNK1, GNAS, SETBP1, TUBA3C, XPO1, ZRSR2, CBL, CBLB, DNMT3A, EED, ETV6, EZH2, PRPF40B, SUZ12, TET2, JAK2, KAT6A, NF1, SF3B1, SH2B3, KLHDC8B, TPMT, BRCA1, BRCA2, BRINP3, CUX1, FAM47A, FAS, KCNK13, MYD88, PML, PRF1, SAXO2, STAT3, TNFRSF13B, C17orf97, TERC
Method
Next Generation Sequencing
Accepted sample types
Bone Marrow (EDTA)
Inheritance
Screens for somatic mutations and copy number changes in a bone marrow/peripheral blood sample; germline predisposition variants may also be detected in some genes such as DDX41.