Clinical Validation of a Myeloid Next-Generations Sequencing Panel for Single Nucleotide Variants, Indels, and Fusion Genes

Myeloid neoplasms are a heterogenous group of neoplasms including acute myeloid leukemia (AML), myeloproliferative neoplasms, myelodysplastic syndrome, and myeloproliferative neoplasms / myelodysplastic syndrome. Genetic abnormalities are used as diagnostic, prognostic, and predictive biomarkers in patients with these diseases. Here, we describe the clinical validation of the Oncomine Myeloid Research (OMR) next-generation sequencing panel that interrogates for 40 genes and 29 fusion genes commonly seen in myeloid neoplasms.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research

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Purpose of review Since 2016, the WHO has recognized the significant phenotypic heterogeneity of chronic myelomonocytic leukemia (CMML) as a myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap disease. Although sharing many somatic mutations with MDS and MPN, the purpose of this review is to put recent biological findings of CMML in the context of evolutionary theory, highlighting it as a distinct evolutionary trajectory occurring in the context of clonal hematopoiesis. Recent findings Clonal hematopoiesis of indeterminate potential (CHIP), with a mutational spectrum and prevalence correlated with a...
Source: Current Opinion in Hematology - Category: Hematology Tags: MYELOID BIOLOGY: Edited by David C. Dale Source Type: research
ogers Components of the pre-messenger RNA splicing machinery are frequently mutated in myeloid malignancies. Mutations in LUC7L2, PRPF8, SF3B1, SRSF2, U2AF1, and ZRSR2 genes occur at various frequencies ranging between 40% and 85% in different subtypes of myelodysplastic syndrome (MDS) and 5% and 10% of acute myeloid leukemia (AML) and myeloproliferative neoplasms (MPNs). In some instances, splicing factor (SF) mutations have provided diagnostic utility and information on clinical outcomes as exemplified by SF3B1 mutations associated with increased ring sideroblasts (RS) in MDS-RS or MDS/MPN-RS with thrombocytosis. SF3...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
In conclusion, the OMR panel is a highly accurate and reproducible next-generation sequencing panel for the detection of common genetic alteration in myeloid neoplasms.
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research
We report a case of a 30-year-old man with a urinary bladder mass, which was consistent with myeloid sarcoma with t(8;21). The importance of myeloid sarcoma of the bladder is that it could be misdiagnosed and must be differentiated from other poorly differentiated bladder tumors composed of round cells, mainly because it is a malignant neoplasm with a good response to treatment, which does not require surgery.
Source: Pathology Case Reviews - Category: Pathology Tags: Case Reviews Source Type: research
This study aimed to analyze the role of postoperative treatment for BC in the development of subsequent HM. Using the French National Health Data System, we examined the HM risks in patients diagnosed with an incident primary breast cancer between 2007 and 2015, who underwent surgery as first-line treatment for BC. Main outcomes were acute myeloid leukemia (AML), Myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPNs), multiple myeloma (MM), Hodgkin’s lymphoma or non-Hodgkin’s lymphoma (HL/NHL), and acute lymphoblastic leukemia or lymphocytic lymphoma (ALL/LL). Analyses were censored at HM o...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
Allogeneic hematopoietic cell transplantation (HCT) is the most potent postremission therapy in AML [1, 2], and is widely used in younger patients with intermediate or adverse risk cytogenetics [3]. Transplant decisions are mainly based on the cytogenetic and molecular risk group, age, comorbidity, response to therapy and on the availability of a suitable donor [4]. AML is in more than one fourth of all cases secondary (s-AML), arising after previous chemo- and/or radiotherapy, i.e., therapy-related (t-AML), or developing after an antecedent myeloid disease (AHD-AML), such as myelodysplastic syndromes (MDS) or myeloprolife...
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Allogeneic hematopoietic cell transplantation (HCT) is the most potent postremission therapy in patients with acute myelogenous leukemia (AML) [1,2], and is widely used in younger patients with intermediate-risk or adverse-risk cytogenetics [3]. Transplantation decisions are based mainly on cytogenetic and molecular risk group, age, comorbidity, response to therapy, and the availability of a suitable donor [4]. AML is secondary (s-AML) in more than 25% of all cases, arising after previous chemotherapy and/or radiotherapy (i.e., therapy-related [t-AML]) or developing after an antecedent myeloid disease (AHD-AML), such as my...
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a distinct entity defined by the World Health Organization (WHO) in 2008, by the presence of multilineage dysplasia (MLD), and/or myelodysplastic syndrome (MDS)-related cytogenetics, and/or a history of MDS or MDS/myeloproliferative neoplasm (MPN) [1]. In the 2016 WHO classification, AML-MRC was preserved as a distinct entity, with some minor revisions in MDS-related cytogenetics [2]. A majority of the patients in studies reporting that the prognosis of AML-MRC was worse than that of AML-not otherwise specified (NOS) [3 –8] had undergone chemothe...
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Conclusions The discovery of JAK2V617F mutation in BCR-ABL1-negative MPNs by four different international cooperative groups in 2005 (2–5) led to significant insights on the pathogenesis of these disorders. In fact, this mutation results in a gain-of-function with activation of cytokine and growth factor receptors, and thus of the downstream JAK-STAT pathway (79, 95–98). The JAK2 point mutation in exon 12, present in a small percentage of patients with PV, is able to induce the MPN phenotype through the same pathogenic mechanism (6, 7). In 2006 the MPLW515L/K was reported in ET and PMF patients (44, 45) and d...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Somatic mutations in the additional sex combs like-1 (ASXL1) gene have been described in myeloid malignancies including acute myeloid leukemia (AML), myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML) and rarely in juvenile myelomonocytic leukemia (JMML). Most ASXL1 mutations occur in exon 13 (some time referred as exon 12) and are most often frameshift or nonsense mutations that result in C-terminal truncation of the protein upstream of the PHD finger region.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
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