Development of a High-Resolution Melting Curve Analysis Screening Test for Splicing Factor Gene Mutations in Myelodysplastic Syndromes

We describe a high-resolution melting (HRM) curve analysis to screen for SRSF2 hotspot mutations in a fast, sensitive, and reliable way.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research

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In conclusion, 96.5% of patients with hematologic malignancies have adequate tissue for comprehensive genomic profiling. Most patients had unique molecular signatures, and 75% had alterations that may be pharmacologically tractable with gene- or immune-targeted agents.
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
Background: Various pro-inflammatory and stress-related stimuli activate p38 mitogen-activated protein kinase (p38MAPK), triggering cascades of cell proliferation, differentiation, and apoptosis signaling. We have previously found that inflammatory cytokines promote growth and survival in primary cells from acute myeloid leukemia (AML) patients. The downstream mediator of inflammatory pathways is p38MAPK, and blocking this regulator with kinase inhibitors abrogates inflammation signaling in AML cells.Methods: We used a functional ex vivo screening assay to identify small-molecule targeted inhibitors and inhibitor combinati...
Source: Blood - Category: Hematology Authors: Tags: 616. Acute Myeloid Leukemia: Novel Therapy, excluding Transplantation: Poster II Source Type: research
Conclusion: Both myeloid and lymphoid-derived primary leukemia cells show sensitivity to combined inhibition of BCL2 and BTK with the combination of venetoclax and ibrutinib, suggesting this drug pair may have broad therapeutic indications.DisclosuresTyner: Vivid Biosciences: Membership on an entity's Board of Directors or advisory committees; Takeda: Research Funding; Genentech: Research Funding; Gilead: Research Funding; Constellation: Research Funding; Janssen: Research Funding; AstraZeneca: Research Funding; Incyte: Research Funding; Array: Research Funding; Aptose: Research Funding. Danilov: TG Therapeutics: Consultan...
Source: Blood - Category: Hematology Authors: Tags: 802. Chemical Biology and Experimental Therapeutics: New Targeted Therapies and Drug Development Source Type: research
Conclusion: This study has established the responsiveness and MCID for both Part A and Part B of HM-PRO. The HM-PRO is capable of detecting small but clinically important changes in patients' HRQoL over time. The MCID for Part A based on SEM was 6.2 and for PART B 5.9 points. It would therefore be prudent, for practical reasons, to propose a MCID of '6' for the HM-PRO.DisclosuresOliva: Sanofi: Consultancy, Speakers Bureau; La Jolla: Consultancy; Amgen: Consultancy, Speakers Bureau; Celgene: Consultancy, Other: Royalties, Speakers Bureau; Janssen: Consultancy, Speakers Bureau; Novartis: Consultancy, Speakers Bureau. Ionova:...
Source: Blood - Category: Hematology Authors: Tags: 904. Outcomes Research-Malignant Conditions: Poster I Source Type: research
Conclusion: This study employed the anchor-based approach for devising a set of score banding for both Part A and Part B of HM-PRO. The proposed bands (Part A=0-7, 8-25, 26-41, 42-74, 75-100; Part B=0-3, 4-16, 17-29, 30-65, 66-100) had the highest agreement and number of patients in the individual bands. The proposed bands could be applied independent of gender and different age groups. The findings of this study will help the clinician and the care team to interpret the HM-PRO scores to aid their clinical decision-making process in daily routine practice.DisclosuresOliva: Sanofi: Consultancy, Speakers Bureau; Celgene: Con...
Source: Blood - Category: Hematology Authors: Tags: 904. Outcomes Research-Malignant Conditions: Poster III Source Type: research
In conclusion, 96.5% of patients with hematologic malignancies have adequate tissue for comprehensive genomic profiling. Most patients had unique molecular signatures, and 75% had alterations that may be pharmacologically tractable with gene- or immune-targeted agents.DisclosuresNo relevant conflicts of interest to declare.
Source: Blood - Category: Hematology Authors: Tags: 602. Disordered Gene Expression in Hematologic Malignancy, including Disordered Epigenetic Regulation Source Type: research
Conclusions:We present the largest experience in EMH without associated MPN, in adults. We describe associated conditions and elaborate further on "idiopathic" EMH (n=12), which often represented an incidental discovery during evaluation of unrelated symptoms. None of the patients with idiopathic EMH harbored occult malignancies or subsequently developed MPN or other myeloid malignancies. Our observations do not support undertaking extensive investigations targeting MPN or other malignancies in idiopathic EMH and simple monitoring might be adequate.DisclosuresNo relevant conflicts of interest to declare.
Source: Blood - Category: Hematology Authors: Tags: 634. Myeloproliferative Syndromes: Clinical Source Type: research
Genomic analysis has greatly influenced the diagnosis and clinical management of patients affected by diverse forms of hematologic malignancies. Here, we review how genetic alterations define subclasses of patients with acute leukemias, myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPNs), non-Hodgkin lymphomas, and classical Hodgkin lymphoma. These include new subtypes of acute myeloid leukemia defined by mutations in RUNX1 or BCR-ABL1 translocations as well as a constellation of somatic structural DNA alterations in acute lymphoblastic leukemia. Among patients with MDS, detection of mutations in SF3B1 def...
Source: Blood - Category: Hematology Authors: Tags: Myeloid Neoplasia, Lymphoid Neoplasia, Review Articles, Review Series, Clinical Trials and Observations Source Type: research
Hematopoietic cell transplantation (HCT) is a potentially curative treatment for patients with high-risk hematologic malignancies [1,2]. Common indications for HCT in adults include acute myelogenous leukemia, myeloproliferative neoplasms, myelodysplastic syndromes, chronic myelogenous leukemia, chronic lymphocytic leukemia, acute lymphoblastic leukemia, lymphoma, multiple myeloma, Hodgkin lymphoma, non-Hodgkin lymphoma, and certain solid tumors [2].
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
CONCLUSION: The striking differences in the incidence patterns by histologic subtype strongly suggest a certain level of etiologic heterogeneity among hematological malignancies and support the pursuit of epidemiologic analysis by subtype for HMs in international studies. Age-standardized incidence rates are essential to analyze trends in risk, whereas the number of incident cases is necessary to make provisions for healthcare resources and to evaluate the overall burden of HM. PMID: 26973179 [PubMed - as supplied by publisher]
Source: Revue d Epidemiologie et de Sante Publique - Category: Epidemiology Tags: Rev Epidemiol Sante Publique Source Type: research
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