Scientists close in on mystery surrounding dangerous blood syndromes

(Cincinnati Children's Hospital Medical Center) Scientists may be on the road to solving the mystery of a group of mostly incurable blood diseases called myelodysplastic syndromes (MDS), which cause people to have immature, malfunctioning bone marrow cells that fuel a diverse set of health problems and can lead to leukemia. Researchers report in the journal Cancer Discovery identifying a gene that in laboratory experiments fuels the biological processes that cause the different types of MDS that physicians see in patients.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news

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In conclusion, although outcome of older patients with high‐risk AML is very poor, a significant proportion of patients treated by standard intensive chemotherapy but not HMA are long ‐term survivors.
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
We present a case of a 19-month infant who was taken to the Emergency Department due to fever and a gingival lesion that did not respond to antibiotic treatment. An ultrasound study was requested to assess the presence of an abscess. However, a lesion was identified and after performing a biopsy, pathologist found it was a myeloid sarcoma. The patient was diagnosed with AML and chemotherapy treatment was started. After three cycles of treatment, the patient is currently free of disease.
Source: Revista Espanola de Cirugia Oral y Maxilofacial - Category: ENT & OMF Source Type: research
We present a case of a 19-month infant who was taken to the Emergency Department due to fever and a gingival lesion that did not respond to antibiotic treatment. An ultrasound study was requested to assess the presence of an abscess. However, a lesion was identified and after performing a biopsy, pathologist found it was a myeloid sarcoma. The patient was diagnosed with AML and chemotherapy treatment was started. After three cycles of treatment, the patient is currently free of disease.
Source: Revista Espanola de Cirugia Oral y Maxilofacial - Category: ENT & OMF Source Type: research
Abstract Altered splicing contributes to the pathogenesis of human blood disorders including MyeloDysplastic Syndromes (MDS) and leukemias. Here we characterized the transcriptomic regulation of PRPF40B, which is a splicing factor mutated in a small fraction of MDS patients. We generated a full PRPF40B knockout in K562 cell line by CRISPR/Cas9 technology, and rescued its levels by transient overexpression of wild-type, P383L or P540S MDS alleles. Using RNA sequencing we identified hundreds of differentially expressed genes and alternative splicing events in the knockout that are rescued by wild-type PRPF40B, with ...
Source: RNA - Category: Genetics & Stem Cells Authors: Tags: RNA Source Type: research
This study is registered with ClinicalTrials.gov, number NCT01261312.FindingsBetween July 9, 2012, and April 7, 2014, 105 patients were enrolled: 55 (52%) were allocated to guadecitabine 60 mg/m2 (28 patients were treatment-naive and 27 had relapsed or refractory disease after previous hypomethylating agent treatment) and 50 (48%) patients to 90 mg/m2 (23 patients were treatment-naive and 27 had relapsed or refractory disease). Three (3%) patients of 105 did not receive study treatment and were excluded from analyses. Median follow-up was 3·2 years (IQR 2·8–3·5). The proportion of patients achiev...
Source: The Lancet Haematology - Category: Hematology Source Type: research
Publication date: Available online 3 May 2019Source: Best Practice &Research Clinical HaematologyAuthor(s): Hind Rafei, Courtney D. DiNardoAbstractMyelodysplastic syndromes and acute myeloid leukemia are sporadic for the majority of cases affecting the elderly population. Inherited cases, however, do occur. Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased risk of various malignancies including myelodysplasia and acute myeloid leukemia such as Li-Fraumeni syndrome and constitutional mismatch repair deficiency (CMMRD); germline mu...
Source: Best Practice and Research Clinical Haematology - Category: Hematology Source Type: research
CONCLUSIONS: Approximately 2 out of 10 hematological cancer patients experienced MI, ischemic stroke, VTE, or bleeding requiring hospital contact within 10 years. The hematological cancer cohort had higher hazards of MI, ischemic stroke, VTE, and bleeding requiring hospital contact than a general population comparison cohort. This article is protected by copyright. All rights reserved. PMID: 31054195 [PubMed - as supplied by publisher]
Source: Thrombosis and Haemostasis - Category: Hematology Authors: Tags: J Thromb Haemost Source Type: research
Conclusion: The findings confirmed the difference in frequency of SF3B1 and SRSF2 mutations among different populations. Specifically, we found a co-mutation of Q699H and K700E that has not been previously reported in MDS patients in the COSMIC database. It was also found that SF3B1mut was strongly associated with low hemoglobin level, and high platelet counts whereas SRSF2mut was mostly clustered in MDS with excess blasts subsequently increasing the probability of progression to acute myeloid leukemia. PMID: 31030497 [PubMed - in process]
Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Tags: Asian Pac J Cancer Prev Source Type: research
AbstractSirtuin 1 (SIRT1) is a protein deacetylase, which regulates various physiological activities by deacetylating different protein substrates. An increasing number of studies have revealed critical roles of SIRT1 in different aspects of cancers including metabolism, proliferation, genomic instability, and chemotherapy resistance. Depending on the protein targets in a certain oncogenic context, SIRT1 may play a unique role in each individual blood cancer subtype. Our previous work showed that activation of SIRT1 in primitive leukemia cells of acute myeloid leukemia (AML) and chronic myelogenous leukemia (CML) promotes ...
Source: Journal of Zhejiang University. Science. B. - Category: Universities & Medical Training Source Type: research
Abstract Sirtuin 1 (SIRT1) is a protein deacetylase, which regulates various physiological activities by deacetylating different protein substrates. An increasing number of studies have revealed critical roles of SIRT1 in different aspects of cancers including metabolism, proliferation, genomic instability, and chemotherapy resistance. Depending on the protein targets in a certain oncogenic context, SIRT1 may play a unique role in each individual blood cancer subtype. Our previous work showed that activation of SIRT1 in primitive leukemia cells of acute myeloid leukemia (AML) and chronic myelogenous leukemia (CML)...
Source: J Zhejiang Univ Sci ... - Category: Science Authors: Tags: J Zhejiang Univ Sci B Source Type: research
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