Myelodysplastic Syndrome Focused NGS Panel


Sunquest Code:MDSFOC  
Epic Code:LAB8044Epic Name:Myelodysplastic Syndrome Focused NGS Panel
Synonyms:MDS; ASXL1; CBL; DNMT3A; EZH2; ETV6; RUNX1; SF3B1; TET2; TP53
Methodology:Next generation sequencing
Test Includes:Next generation sequencing of ASXL1, DNMT3A, SF3B1, SRSF2, TET2, U2AF1, ZRSR2
Turnaround Time:Performed Mon-Fri; results are reported within 10-14 days.
Special Instructions:Bone Marrow Transplant Patients: If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.
 


Collection Instructions

Specimen:Blood, bone marrow
Optimal Volume:10 mL blood; 3 mL bone marrow
Minimum\Peds Volume:3 mL blood; 1 mL bone marrow
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Collection Instructions:Bone marrow clot acceptable for testing.
Causes for Rejection:Whole blood: frozen or clotted specimen; incorrect anticoagulant; specimen more than 5 days old.  All testing will be cancelled if engraftment testing is 100% donor engrafted in consultation with clinician.
Shared blood or bone marrow samples will not be accepted unless sent to Molecular first. Contamination will occur on automated hematology analyzers.
The diagnostic sample for hematology panels (not including MPN) requires at least 20% blasts to perform testing. Follow-up samples for the hematology panels will be tested for all the gene(s) positive in the diagnostic sample.


Processing and Shipping

Specimen Processing:Do not process. Store at room temperature.
Shipping Instructions:Ship at room temperature. Do not refrigerate or freeze.
Stability:Whole blood samples are stable for 5 days at room temperature. Do not refrigerate or freeze.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:See interpretive report.
Use:This multi-gene panel is indicated in the diagnostic workup of a patient suspicious for myelodysplastic syndrome (MDS) or diagnosed with MDS. The table below lists gene mutations likely to be somatic (acquired, not congenital) and disease-related and therefore presumptive evidence MDS. All mutated genes are not unique to MDS and must be interpreted in the appropriate clinical context (e.g. cytopenias, <20% bone marrow blasts, no other AML defining criteria). Not all MDS patients will have a mutation in one of these genes.
Mutated
Gene		 Overall
Incidence		 Clinical
Significance
TET2 20-25% Associated with normal karyotypes. More frequent in CMML (40-60%). Common in CHIP and CCUS.
DNMT3A 12-18% More frequent occurrence in AML, particularly R882 mutations. Common in CHIP and CCUS.
ASXL1 15-25% Independently associated with a poor prognosis in MDS and CMML. More frequent in CMML (40-50%). Common in CHIP and CCUS.
EZH2 5-10% Independently associated with a poor prognosis in MDS and MDS/MPN. More frequent in CMML (12%)
SF3B1 20-30% Strongly associated with ring sideroblasts and more frequent in MDS-RS (80%). Independently associated with a more favorable prognosis.
RUNX1 10-15% Independently associated with a poor prognosis in MDS.
TP53 8-12% Independently associated with a poor prognosis. More frequent with complex karyotypes (50%) and del(5q) (15-20%). May predict resistance or relapse to lenalidomide in MDS with isolated deletion 5q.
CBL <5% More frequent in CMML (10-20%) and JMML (15%).
ETV6 <5% Independently associated with a poor prognosis.
*Somatic mutations in several MDS-associated genes (e.g. TET2, DNMT3A, TP53) can occur in non-disease states and no gene mutation is diagnostic of MDS. Mutations in several genes can occur in neoplasms other than MDS, including lymphoid malignancies such as CLL and ALL. Mutations should not be used as presumptive evidence of MDS when diagnostic criteria for MDS have not been met.
CHIP: Clonal Hematopoiesis of Indeterminate Potential
CCUS: Clonal Cytopenia of Undetermined Significance
CMML: Chronic Myelomonocytic Leukemia
JMML: Juvenile Myelomonocytic Leukemia.
Reference: NCCN Guidelines, Myelodysplastic Syndromes, Version 2.2019-October 18, 2018.


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