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Aplastic anemia and clonal evolution: germ line and somatic genetics.

Aplastic anemia and clonal evolution: germ line and somatic genetics. Hematology Am Soc Hematol Educ Program. 2016 Dec 02;2016(1):74-82 Authors: Shimamura A Abstract Clonal progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow failure (BMF). Recognizing risk factors for the development of MDS or AML would inform individualized treatment decisions and identify patients who may benefit from early or upfront hematopoietic stem cell transplantation. Now that next-generation DNA sequencing is available in the clinical laboratory, research has focused on the implications of germ line and somatic mutations for diagnosing and monitoring patients with BMF. Most germ line genetic BMF disorders are characterized by a high propensity to develop MDS or AML. Many affected patients lack the physical stigmata traditionally associated with the inherited marrow failure syndromes. Although any single inherited marrow failure disorder is rare, multiplexed genetic sequencing that allows simultaneous evaluation of marrow failure genes en masse demonstrated that, as a group, these inherited disorders compose a significant subset (5% to 10%) of patients with BMF. Early diagnosis of a germ line genetic marrow failure disorder allows individualized monitoring and tailored therapy. Recent studies of somatic variants in marrow failure revealed a high frequency of clonal hematopoiesis wit...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research

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Source: European Urology - Category: Urology & Nephrology Source Type: research
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Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research
Myeloid malignancies can be either primary or secondary, whether or not a specific cause can be determined. Fanconi anemia (FA), a rare constitutional bone marrow failure, usually presents an increased possibility of clonal evolution, due to the increase in chromosomal instability, TP53 activation, and cell death. The evolution of FA may include aplastic anemia by the progressive failure of the bone marrow and myelod neoplasias, such as acute myeloid leukemia and myelodysplastic syndrome. Chromosome abnormalities, particularly of chromosomes, 1, 3, and 7, during the aplastic phase of the disease are predictive of evolution...
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research
Clonal hematopoiesis (CH) in aplastic anemia (AA) has been closely linked to the evolution of late clonal disorders, including paroxysmal nocturnal hemoglobinuria and myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML), which are common complications after successful immunosuppressive therapy (IST). With the advent of high-throughput sequencing of recent years, the molecular aspect of CH in AA has been clarified by comprehensive detection of somatic mutations that drive clonal evolution. Genetic abnormalities are found in ~50% of patients with AA and, except for PIGA mutations and copy-neutral loss-of-heterozygosi...
Source: Blood - Category: Hematology Authors: Tags: Free Research Articles, Red Cells, Iron, and Erythropoiesis, CME article, Review Articles Source Type: research
Publication date: September–December 2014 Source:Best Practice & Research Clinical Haematology, Volume 27, Issues 3–4 Author(s): Blanche P. Alter Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and specific solid tumors. A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by age 7 years; the cancers are AML, brain ...
Source: Best Practice and Research Clinical Haematology - Category: Hematology Source Type: research
In conclusion, we suggest screening for GATA2 mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naive cells). PMID: 27013649 [PubMed - as supplied by publisher]
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
Conclusion: The incidence of C. difficile infection after hematopoietic stem cell transplantation was low, with a significant number of cases occurring shortly after transplantation. Allogeneic transplants had a three-time higher risk of infection compared to autologous transplants, but this was not associated with increased mortality, decreased overall survival or higher risk of acute graft-versus-host disease.
Source: Revista Brasileira de Hematologia e Hemoterapia - Category: Hematology Source Type: research
In the Myeloid session of the 30th Nagoya International Cancer Treatment Symposium, three speakers were invited. Prof. Clara Bloomfield emphasized the importance of genetic alterations for the prognostic stratification and treatment of acute myeloid leukemia (AML). Dr. Eytan Stein showed that there are promising anti-leukemia effects of IDH2 inhibitor, AG-221, and DOT1L inhibitor, EPZ-5676, based on early-phase clinical studies. Prof. Seishi Ogawa presented a review of the clonal dynamics of secondary myelodysplastic syndrome (MDS) derived from aplastic anemia (AA). From these presentations, we are confident that molecular...
Source: Oncology - Category: Cancer & Oncology Source Type: research
Abstract In the Myeloid session of the 30th Nagoya International Cancer Treatment Symposium, three speakers were invited. Prof. Clara Bloomfield emphasized the importance of genetic alterations for the prognostic stratification and treatment of acute myeloid leukemia (AML). Dr. Eytan Stein showed that there are promising anti-leukemia effects of IDH2 inhibitor, AG-221, and DOT1L inhibitor, EPZ-5676, based on early-phase clinical studies. Prof. Seishi Ogawa presented a review of the clonal dynamics of secondary myelodysplastic syndrome (MDS) derived from aplastic anemia (AA). From these presentations, we are confid...
Source: Oncology - Category: Cancer & Oncology Authors: Tags: Oncology Source Type: research
Publication date: March 2015 Source:Blood Cells, Molecules, and Diseases, Volume 54, Issue 3 Author(s): Sadudee Chotirat , Wanna Thongnoppakhun , Wanchai Wanachiwanawin , Chirayu U. Auewarakul Mutations of isocitrate dehydrogenase isoform 1 and 2 (IDH1 and IDH2) genes have been identified in glioblastoma and acute myeloid leukemia (AML). However, little is known about the molecular alterations of IDH genes in preleukemic disorders with a propensity to transform to AML. We performed polymerase chain reaction–denaturing high performance liquid chromatography (PCR–DHPLC) followed by direct sequencing to detect I...
Source: Blood Cells, Molecules, and Diseases - Category: Hematology Source Type: research
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