MDS- NGS panel (Myelodysplastic syndrome) - (41 Genes)
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MYSMD
Specialty
Genetics
Clinical significance
The "MDS" NGS panel includes the analysis of 41 genes: ASXL1/BCOR/BCORL1/BRAF/CALR/CBL/CEBPA/CSF3R/DNMT3A/ETNK1/ETV6/EZH2/FLT3/GATA2/GNB1/HRAS/IDH1/IDH2/JAK2/KIT/KMT2/AMLL/KRAS/MPL/NF1/NPM1/NRAS/PHF6/PPM1D/PRPF8/PTPN11/RUNX1/SETBP1/SF3B1/SRSF2/STAG2/TET2/TP53/UBA1/U2AF1/WT1/ZRSR2. It can be used in the three areas of diagnosis, prognosis and theranostics and must be associated with a bone marrow cytogenetic analysis. - Its prognostic value is predominant, as it is used to calculate the M-IPSS molecular score. This score is calculated on the basis of clinico-biological data: patient age, CBC/platelet data (hemoglobin level, absolute neutrophil and platelet count) and percentage of bone marrow blasts. It also includes the R-IPSS cytogenetic score and the presence or absence of mutations in two groups of genes: a first group of 16 "main" genes: TP53, KMT2A-MLL, FLT3, ASXL1, CBL, DNMT3A, ETV6, EZH2, IDH2, KRAS, NPM1, NRAS, RUNX1, SF3B1, SRSF2, U2AF1 and a second group of 15 so-called "secondary" genes: BCOR, BCORL1, CEBPA, ETNK1, GATA2, GNB1, IDH1, NF1, PHF6, PPM1D, PRPF8, PTPN11, SETBP1, STAG2 and WT1. This score classifies a patient as being at "very low", "low", "moderate low", "moderate high", "high" and "very high" risk. The score can therefore be used to guide treatment strategy. It is also worth noting the negative impact of a TP53 mutation in 5q- syndrome treated with lenalidomide (treatment resistance factor). - From a diagnostic point of view, the search for TP53 and SF3B1 mutations makes it possible to define 2 new WHO and ICC 2022 entities: * "MDS with low blasts and SF3B1 mutation" (MDS-SF3B1).The presence of an SF3B1 mutation is associated with a favorable prognosis in MDS. The absence of a TP53 or RUNX1 mutation must be verified to define this entity. * MDS with TP53 inactivation of poor prognosis. This entity is established on the basis of 2 TP53 mutations (VAF >or=10%) or a TP53 mutation associated with (1) a del(17p) deletion demonstrated by cytogenetics (2) a VAF > 50%, (3) a LOH at the TP53 locus. This MDS panel also provides diagnostic support in cases of suspected MDS with no suggestive bone marrow cytology (bone marrow with no sign of dysmyelopoiesis) and no clonal cytogenetic abnormality suggestive of MDS, if one or more mutations reported in MDS are observed. The notion of CHIP (age-related clonal hematopoiesis of indeterminate potential) must then be discussed. - The theranostic impact can also be addressed with this panel (IDH1, IDH2, FLT3, TP53 therapeutic targets). - Finally, the MDS NGS panel also offers mutational analysis of the UBA1 gene associated with the VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) in which myelodysplastic syndromes are reported.
Preanalytics
- :
- 5 ml EDTA whole blood or 2 ml EDTA bone marrow or DNA extracted : (200ng of DNA minimum)
- Ambient temperature
- A tube specifically for this analysis : No
Further information
Samples to be collected from Monday to Friday
Sample must be refrigerated if transport is > 48 hours
Use the specific request form B8-INTGB: Malignant blood disorders
Attach:
- the results of the FBC - platelets
- the bone marrow report
Documents to download
Methodology
Method: Targeted sequencing of genes (NGS). - Library: Library Preparation Enzymatic Fragmentation Kit 2.0 Twist - NGS Platform: NovaSeq Illumina (2x150pb) - paired-end sequencing - Analysis software: Demultiplexage BCLconvert V3.10.5 / VarSome Pipeline version 11.8 (CE-IVD)
Turnaround time
10 days (Results may require an extended turnaround time, one week, depending on the confirmation tests required by Sanger sequencing)
Biomnis Lyon
