Idiopathic aplastic anemia vs hypocellular myelodysplastic syndrome.

Idiopathic aplastic anemia vs hypocellular myelodysplastic syndrome. Hematology Am Soc Hematol Educ Program. 2019 Dec 06;2019(1):97-104 Authors: Durrani J, Maciejewski JP Abstract Proper diagnostic distinction of bone marrow failure syndromes can often be challenging. In particular, for older patients with idiopathic aplastic anemia (AA), differential diagnosis includes myelodysplastic syndrome (MDS), which can atypically present in a hypocellular form. In addition to blasts and overt dysplasia, the presence of chromosomal abnormalities and a spectrum of somatic mutations may be revealing. Both clonal cytogenetic aberrations and somatic mutations most typically correspond to a clonal myelodysplasia, but clonal somatic mutations have also recently been found in AA. True driver myeloid mutations are uncommon in AA. Marrow hypocellularity in AA and occasionally in MDS patients points toward a similar immune mechanism responsible for deficient blood cell production and indicates that cytopenias in early hypocellular MDS might be treated with immunosuppressive modalities. Primary hypocellular MDS has to be distinguished from post-AA secondary MDS, most commonly associated with del7/7q. Post-AA MDS evolves at the rate of about 10% in 10 years, but recent observations suggest that widespread use of eltrombopag may influence the risk of progression to MDS. This complication likely represents a clonal escape, with founder hits occurring early on in the course of A...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research

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Immune-mediated processes are considered important in the pathogenesis of bone marrow failure syndromes (BFS). We previously reported that natural killer group 2D (NKG2D) ligands were expressed on pathological blood cells of patients with BFS and that NKG2D immunity may be involved in bone marrow failure. In addition to membranous NKG2D ligands on the cell surface, soluble NKG2D ligands can exist in plasma. We therefore examined the relationship between soluble NKG2D ligands and blood cell counts in 86 patients with BFS, including aplastic anemia, myelodysplastic syndrome with single lineage dysplasia, and paroxysmal noctu...
Source: Acta Haematologica - Category: Hematology Source Type: research
Abstract Immune-mediated processes are considered important in the pathogenesis of bone marrow failure syndromes (BFS). We previously reported that natural killer group 2D (NKG2D) ligands were expressed on pathological blood cells of patients with BFS and that NKG2D immunity may be involved in bone marrow failure. In addition to membranous NKG2D ligands on the cell surface, soluble NKG2D ligands can exist in plasma. We therefore examined the relationship between soluble NKG2D ligands and blood cell counts in 86 patients with BFS, including aplastic anemia, myelodysplastic syndrome with single lineage dysplasia, an...
Source: Acta Haematologica - Category: Hematology Authors: Tags: Acta Haematol Source Type: research
Myelodysplastic syndromes (MDS) are clonal diseases defined by clinical, morphologic, and genetic features often shared by related myeloid disorders. The diagnostic boundaries between these diseases can be arbitrary and not necessarily reflective of underlying disease biology or outcomes. In practice, measures that distinguish MDS from related disorders may be difficult to quantify and can vary as disease progression occurs. Patients may harbor findings that are not consistent with a single diagnostic category. Several overlap disorders have been formally described, such as the myelodysplastic/myeloproliferative neoplasms ...
Source: Blood - Category: Hematology Authors: Tags: Hematopoiesis and Stem Cells, Myeloid Neoplasia, Review Articles, Review Series, Clinical Trials and Observations Source Type: research
Conclusion18F-FLT PET can be used to noninvasively assess whole-body bone marrow proliferative activity and DWI may reflect the different aspects of bone marrow pathophysiology from18F-FLT PET.18F-FLT PET/MRI is useful for the diagnosis and monitoring of BMFS, except for the differentiation between non-severe AA and hypo-MDS, and the prediction of progression to leukemia.
Source: EJNMMI Research - Category: Radiology Source Type: research
This study may open up new potential therapeutic avenues for the treatment of patients with chronic infection, inflammatory diseases, and cancer.DisclosuresNo relevant conflicts of interest to declare.
Source: Blood - Category: Hematology Authors: Tags: 506. Hematopoiesis and Stem Cells: Microenvironment, Cell Adhesion, and Stromal Stem Cells Source Type: research
In conclusion, our results suggest that EPAG is well-tolerated and effective in restoring hematopoiesis in patients with low to intermediate-2 risk MDS, particular with a prior history of hypoplastic bone marrow failure syndromes. EPAG was discontinued for robust response in the majority of responders but declining blood cell counts were observed in about 50% of them. Variants in MCG were more common at study entry compared to patients with aplastic anemia (Yoshizato, NEJM, 2015). However, EPAG appears not to selectively promote expansion of clones harboring MCGs in this patient population.DisclosuresTownsley: National Ins...
Source: Blood - Category: Hematology Authors: Tags: 637. Myelodysplastic Syndromes-Clinical Studies: Novel Therapeutics I Source Type: research
Inherited bone marrow failure (IBMF) syndromes are a group of disorders associated with insufficient production of hematopoietic cells and are characterized by a predisposition for malignancies including myelodysplastic syndrome (MDS) and acute leukemia (AML). A majority of these disorders including aplastic anemia (AA) and dyskeratosis congenita (DKC) are characterized by defects in telomere maintenance and excessively short telomeres. Studies have demonstrated an association between shortened telomeres, advanced disease and increased risk of developing blood cancers. Heterozygous mutations in the gene encoding the telome...
Source: Blood - Category: Hematology Authors: Tags: 508. Bone Marrow Failure Source Type: research
Discussion. CTLTCR repertoire analysis of AA patients revealed a TCR signature that was typical of AA patients, but varied between different patients, and it was validated with an independent dataset. Thus, we could design a TCR-based framework which could identify AA patients based on their TCR repertoire, independently of sample type. A future application for our classifier could be distinguishing AA from other AA-like diseases, like hypoplastic myelodysplastic syndrome. Furthermore, we found groups of TCRs that look similar on amino acid level, and hence these clones may target the same epitope. These TCR clusters were ...
Source: Blood - Category: Hematology Authors: Tags: 508. Bone Marrow Failure: Acquired Bone Marrow Failure and Somatic Genetics Source Type: research
Inherited and acquired bone marrow failure syndromes (BMF) may be difficult to distinguish due to heterogeneity and overlap of clinical phenotypes. Genomic screening has been increasingly used to identify mutations in BMF-related genes that are known to be etiologic in inherited BMF. However, genomic testing is expensive, results may not return for several seeks, and findings can be difficult to interpret as some reported variants are of unclear clinical significance. To guide the decision-making for genetic testing and results interpretation, we aimed to identify clinical and molecular parameters associated with a higher ...
Source: Blood - Category: Hematology Authors: Tags: 508. Bone Marrow Failure: Poster II Source Type: research
ConclusionWe have established and evaluated a model of comprehensive multimodal genomic characterisation and multidisciplinary care for 100 patients with BMFS. Our results demonstrate a significant contribution to diagnostic categorisation and patient care in this area of clinical need.DisclosuresLieschke: CSL Behring Australia: Consultancy. Tam: Janssen: Honoraria, Research Funding; Gilead: Honoraria; AbbVie: Honoraria, Research Funding; Pharmacyclics: Honoraria, Travel funding; Pharmacyclics: Honoraria; Beigene: Honoraria, Other: Travel funding; Roche: Honoraria; Beigene: Honoraria, Other: Travel funding; Gilead: Honorar...
Source: Blood - Category: Hematology Authors: Tags: 508. Bone Marrow Failure: Poster III Source Type: research
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