TARGETED GENOMIC SEQ ANALYS panel for MDS – pro

Myelodysplastic syndromes (MDS) constitute of a group of cancers that prevent immature blood cells from maturing properly. Immature blood stem cells, called blasts, in the bone marrow typically mature into red blood cells, white blood cells, or platelets. Specific MDS diagnosis is made based upon the type(s) of changes in the blood cells and bone marrow and includes refractory anemia, refractory cytopenia, acute myeloid leukemia, and chronic myelomonocytic leukemia. According to Genoptix, the Myeloid Molecular Profile is a multi-gene panel designed to identify key variants in genes involved in MDS.

As other such tests, it is retrospectivelly validated, which is not the same as showing prospective advantage to using it to make clinical decisions. There are no supporting guidelines.

Kwok B, Hall JM, Witte JS, et al. MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance. Blood. 2015;126:2355-2361.

Cargo CA, Rowbotham N, Evans PA, et al. Targeted sequencing identifies patients with preclinical MDS at high risk of disease progression. Blood. 2015;126:2362-2365.

Steensma DP. Cytopenias + mutations – dysplasia = what?. Blood. 2015;126:2349-2351.

NCCN Clinical Practice Guidelines in Oncology. Myelodysplastic Syndromes. National Comprehensive Cancer Network. 20120

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