Myeloid tumor panel – somatic mutation testing
Myeloid tumor panel targets important regions within 22 genes that are frequently mutated in myeloid malignancies. Myeloid malignancies are clonal diseases of hematopoietic progenitor cells. Myeloid tumors represent the fourth most frequently diagnosed cancer in economically developed countries.
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Creating the mutational profile of myeloid tumors
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.
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
Who can be offered the myeloid tumor panel?
- 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
Benefits of myeloid tumor panel genetic testing
- 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
Scientific articles on somatic mutations
Myeloid malignancies are clonal diseases of hematopoietic progenitor cells (cells that are capable of multiplying and producing additional blood cells of a particular lineage) resulting from genetic and epigenetic…
Ovarian cancer is the most lethal of all gynecological cancers, and the annual incidence of ovarian cancer is 12.1 per 100,000 women. Familial ovarian carcinoma has been described in the context of hereditary breast and…
Pancreatic cancer is one of the world’s most lethal malignant neoplasms, with a 5-year survival rate of about 5-7%. Pancreatic cancer now represents the fourth to fifth most frequent cause of cancer mortality in North…
Myeloid tumor panel
ASXL1, CEBPA, DNMT3A, ETV6, EZH2, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, PTPN11, RAD21, RUNX1, SF3B1, SMC1A, SMC3, STAG2, TET2, TP53, U2AF1, WT1
|Diseases covered:||Acute myeloid leukemia (AML), chronic myeloid leukemia (CML), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), chronic myelomonocytic leukemia (CMML) and juvenile myelomonocytic leukemia (JMML)|
|Turnaround time:||10 business days|
|How to order:||Order a test|