Spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patients

We report the case of a patient with MDS whose cytogenetic analysis showed spontaneous chromatid breakage (chrb): 46,XY,add(13)(q34),chtb(15)(q24) [3]/47,XY,chtb(2)(q22),del(5)(q35),del(7)(q32),+8,del(11q)(q23),del(q22)[cp17]. He was considered a high-risk patient due to the complex karyotype and the presence of chtb. We suggest that this chromosomal abnormality may be considered as a marker of genomic instability in MDS.RESUMO A s índrome mielodisplásica (SMD) é uma desordem clonal das células-tronco hematopoiéticas caracterizada por citopenias periféricas devido à hematopoiese ineficaz e pelo aumento do risco de evolução para a leucemia mieloide aguda (LMA). As alterações cromossômicas representam o marcador mais importante da estratificação de risco para a transformação de LMA. Quebra das cromátides (chtb) é uma descontinuidade de uma única cromátide. Relatamos o caso de um paciente com SMD, cuja análise citogenética mostrou chtb espontâneo: 46,XY,add(13)(q34),chtb(15)(q24)[3]/47,XY,chtb(2)(q22) ,del(5) (q35),del(7)(q32),+8,del(11q)(q23),del(q22)[cp17]. O paciente foi considerado de alto risco devido ao cariótipo complexo e à presença de chtb. Sugerimos que essa anormalidade cromossômica possa ser considerada como marcador de instabilidade.
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - Category: Pathology Source Type: research

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CONCLUSIONS: We found no evidence for a difference between participants receiving ATRA in addition to chemotherapy or chemotherapy only for the outcome OS. Regarding DFS, CRR and on-study mortality, there is probably no evidence for a difference between treatment groups. Currently, it seems the risk of adverse events are comparable to chemotherapy only.As quality of life has not been evaluated in any of the included trials, further research is needed to clarify the effect of ATRA on quality of life. PMID: 30080246 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
z M, Alousi A, Couriel D, Pidala J, Arora M, Cutler C Abstract Upper gastrointestinal acute graft-versus-host disease is reported in approximately 30% of hematopoietic stem cell transplant recipients developing acute graft-versus-host disease. Currently classified as Grade II in Consensus criteria, upper gastrointestinal acute graft-versus-host disease is often treated with systemic immunosuppression. We reviewed the Center for International Blood and Marrow Transplant Research database to assess prognostic implications of upper gastrointestinal acute graft-versus-host disease in isolation or with other acute graf...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
Conditions:   Acute Lymphoblastic Leukemia in Remission;   Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome;   Acute Myeloid Leukemia in Remission;   Blasts 5 Percent or Less of Bone Marrow Nucleated Cells;   Chronic Myelomonocytic Leukemia;   Chronic Phase Chronic Myelogen ous Leukemia, BCR-ABL1 Positive;   Donor;   Minimal Residual Disease;   Myelodysplastic Syndrome;   Myelofibrosis;   Myeloproliferative Neoplasm;   Recurrent Acute Myeloid Leukemia;   ...
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Publication date: Available online 9 November 2017Source: Seminars in Cancer BiologyAuthor(s): Christian Flotho, Sebastian Sommer, Michael LübbertAbstractMyelodysplastic syndrome (MDS) is a clonal bone marrow disorder, typically of older adults, which is characterized by ineffective hematopoiesis, peripheral blood cytopenias and risk of progression to acute myeloid leukemia. Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloproliferative neoplasm occurring in young children. The common denominator of these malignant myeloid disorders is the limited benefit of conventional chemotherapy and a particular resp...
Source: Seminars in Cancer Biology - Category: Cancer & Oncology Source Type: research
We report a case of myeloid sarcoma with megakaryoblastic differentiation in the breast of a patient with history of essential thrombocythemia. The mass was composed of undifferentiated pleomorphic malignant cells in trabecular cords and nests with many scattered giant malignant cells and brisk abnormal mitoses. On immunohistochemistry, the neoplastic cells were positive for CD61, CD31, CD34, Factor VIII and CD43 which confirmed the diagnosis. To our knowledge, this is the first report of myeloid sarcoma with megakaryoblastic morphology occurring in the breast. Here we discuss the clinicopathologic features of this rare en...
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research
We report a case of myelodysplastic syndrome progressing to AML with calreticulin driver mutation in an adult male with TAR syndrome who was successfully treated with hematopoietic allogeneic stem cell transplantation.
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research
Myelodysplastic syndromes (MDS) comprise a group of heterogeneous clonal hematopoietic stem cell disorders characterized by cytopenias(s), morphologic evidence of dysplasia in one or more hematopoietic cell lines, and ineffective hematopoiesis. Patients with MDS have a variable risk of progression to acute myeloid leukemia (AML). The pathophysiology of MDS is complex and involves abnormalities in the regulation of cellular proliferation, maturation, and interactions with the bone marrow microenvironment that result in heterogeneous outcomes.
Source: Leukemia Research - Category: Hematology Authors: Tags: Letter to the Editor Source Type: research
We recently conducted a randomized double-blind study in which we demonstrated that moderate/severe chronic graft-versus-host disease (cGVHD) but not cGVHD-free survival was reduced in patients receiving anti-T lymphocyte globulin (ATLG) versus placebo. In a companion study we performed immunophenotypic analysis to determine the impact of ATLG on immune reconstitution (IR) and to correlate IR with clinical outcomes. The randomized study (n  = 254) included patients (aged 18 to 65 years) who underwent myeloablative transplants for acute myeloid leukemia, myelodysplastic syndrome, or acute lymphoblastic leukemia from HLA...
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
AbstractThe myelodysplastic syndromes, the chronic myeloproliferative neoplasms, and the acute myeloid leukemia are malignancies of the myeloid hematopoietic stem cells of the bone marrow. The diseases are characterized by a dysregulation of the immune system as both the cytokine milieu, immune phenotype, immune regulation, and expression of genes related to immune cell functions are deregulated. Several treatment strategies try to circumvent this deregulation, and several clinical and preclinical trials have shown promising results, albeit not in the same scale as chimeric antigen receptor T cells have had in the treatmen...
Source: Seminars in Immunopathology - Category: Pathology Source Type: research
AbstractPurpose of ReviewApoptosis results from the interaction between pro- and anti-apoptotic proteins, mediated by BCL-2 homology 3 (BH3) proteins. B cell lymphoma-2 (BCL-2) is an inhibitor of apoptosis which stabilizes the mitochondria, resulting in the prevention of activation of the pro-apoptotic proteins. In addition, BCL-2 is overexpressed in the leukemic stem cell (LSC) population, and its inhibition may lead to selective LSC eradication. Herein, we will discuss the mechanism and rationale of BCL-2 inhibition in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) with an overview of the selective BCL-...
Source: Current Hematologic Malignancy Reports - Category: Hematology Source Type: research
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