Myeloid tumor panel – somatic mutation testing
Myeloid tumor panel targets important regions within 22 genes that are frequently mutated in myeloid malignancies.
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Creating the mutational profile of myeloid tumors
Myeloid malignancies are clonal diseases of hematopoietic progenitor cells. They result from genetic and epigenetic alterations that disrupt processes such as proliferation, differentiation and self-renewal of hematopoietic cells. Myeloid tumors represent the fourth most frequently diagnosed cancer in economically developed countries.
The majority of myeloid tumors contain high numbers of somatic mutations, which are genetic changes that are not inherited but created within the tumor itself. Unlike inherited “germline” mutations these somatic mutations are not transmitted to offspring.
Somatic mutations significantly contribute to the pathogenesis, progression and prognosis of myeloid malignancies. Whole genome sequencing in several patients with myeloproliferative disorders pointed at several genes and variants, clearly associated in patients affected with myeloproliferative syndromes. Genes which affect classification and prognosis of acute myeloid leukemias are FLT3, NPMT1, CEBPA. Recently IDH1 and also IDH2 have shown evidence to be informative as diagnostic markers. Additional genes are KIT, TP53, ASXL1, ATRX and SETBP1.
When to suggest the myeloid tumor panel?
The myeloid tumor panel can be recommended for the following patients:
- Individuals with myeloid tumor: acute myeloid leukemia (AML), chronic myeloid leukemia (CML), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), chronic myelomonocytic leukemia (CMML) and juvenile myelomonocytic leukemia (JMML). The results of this genetic test can be useful for assessing the prognosis and guiding the treatment of individuals with myeloid malignancies
- Patients without clinical diagnosis but with classical clinical symptoms and possible changes in the blood cells morphology and counts
- Individuals with early stage disease where a mutational profile from multiple genes informs diagnosis or disease stratification, prognosis, and treatment options
- For late-stage cancers, the test is designed to evaluate options for alternative treatments, including targeted therapies
Scientific articles on somatic mutations
Thrombocytopenia is a disorder of haematopoetic cells with predominant defects of platelets and it is defined as having a platelet count of less than 150,000 in mL of circulating blood, while the normal number of platelets ranges between 150,000 and 450,000 cells per mL of blood. Platelets are haemopoetic cells that play a primary role in haemostasis, interacting with subendothelium-bound von Willebrand factor (VWF) via the membrane glycoprotein complexes.
Robustness of comprehensive DNA- and RNA-based assays at diagnosis of acute myeloid leukemia using blood and bone marrow stored on filter cards
"Molecular analyses in hematologic malignancies gained considerable importance in the last decade at diagnosis and for minimal residual disease (MRD). In our study, we performed a comparison of state-of-the-art cytogenetics, FISH and molecular diagnostic assays based on standard liquid peripheral blood or bone marrow samples and on diagnostic material stored on filter cards."
Benefits of myeloid tumor panel genetic testing
- Covers important regions within 22 genes associated with myeloid tumors
- Enables rapid eligibility identification and patient stratification for clinical trials
- Allows longitudinal and serial molecular monitoring throughout the clinical trial process
- Can be conducted with fresh or frozen/archived blood and bone marrow samples
- Does not require special shipping or storage provisions
- Employs expert analysis from a CLIA-certified lab
- Identifies patients at high risk who are less likely to respond well to treatment
- Helps to determine the intensity of treatment each patient should receive
The goals of somatic testing of myeloid tumors
- Myeloid tumors that may respond to targeted therapies by assessing multiple gene targets simultaneously
- Specific mutations within genes known to be associated with response or resistance to specific cancer therapies
- Mutations that may help determine prognosis for patients with myeloid tumors
- The best therapeutic strategy for each patient
- The diagnosis that will reassure both patient and physician about the relevant health problem and all the possible solutions to improve it
CENTOGENE's myeloid tumor panel offers:
- Our comprehensive myeloid tumor panel includes library preparation, sequencing, and data analysis and reporting in a cost-effective way and with a turnaround time of only ten days
- Myeloid tumor panel collectively assesses important regions within 22 genes with high accuracy, high sensitivity and at a mean coverage depth of >1,000x
- Myeloid tumor panel enables clinical researchers and physicians to access expert-defined content to investigate genomic features associated with hematological malignancies
- Myeloid tumor panel utilizes NGS sequencing and Illumina Platform
- ≥ 1 ml of bone marrow aspirate
- ≥ 2 µg of DNA from bone marrow or blood
- ≥ 1 ml of EDTA blood