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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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Background: Studies of bone marrow cell clonal alterations in patients with Fanconi anemia (FA), a cancer-prone inherited bone marrow failure (BMF) syndrome, have focused on their role in progression from BMF to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). The role of such alterations on patient outcomes after hematopoietic cell transplantation (HCT) is unknown.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
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Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Background: We tried to clarify the clinical significance of Wilms tumor gene-1 expression in peripheral blood cells (PB-WT1) for early detection of relapse in patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) after allogeneic hematopoietic stem cell transplantation (allo-HSCT).
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Myelodysplastic syndrome (MDS) is an aging-associated group of clonal disorders characterized by ineffective hematopoiesis, leading to cytopenias and an increased risk of developing acute myeloid leukemia (AML). MDS arises from abnormal hematopoietic stem cells (HSCs). The only potentially curative therapy available for MDS patients is hematopoietic cell transplantation (HCT), but relapse is common, likely due to the inability of current therapies to effectively eliminate disease-initiating MDS HSCs.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Background: Patients (pts) with High-risk Acute Myeloid Leukemia (AML) or Myelodysplastic Syndrome (MDS) often proceed to allogeneic hematopoietic stem cell transplant (alloHSCT) due to poorer outcomes. This is the only chance of cure; however, relapse rates after alloHSCT remain high and range between 25-50%. Maintenance approaches post-HSCT, such as hypomethylating agents or tyrosine kinase inhibitors, have been used to decrease the relapse rate with mixed results. Lenalidomide is known to augment T/NK cell activity/proliferation which lead us to hypothesize that it will enhance the Graft-versus-Leukemia (GvL) effect wit...
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Background: Allogeneic hematopoietic stem cell transplantation (HCT) is a highly effective therapy for acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS), but can be associated with significant morbidity and mortality. Low pre-HCT diffusing capacity for carbon monoxide (DLCO) is a risk factor for death post-HCT. We sought to identify additional patient- or HCT-related variables that might modulate this risk.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Background: Outcomes of allogeneic stem cell transplantation (AHSCT) vary based on both disease and patient characteristics. Our group developed a model to predict survival in patients with AML/MDS using 3 factors, 2 disease-related (cytogenetics, disease status at transplant) and 1 patient-related (HCT-CI) (Bachegowda et  al.Blood.2017). This model effectively stratified patients into 3 risk groups with very different survival. Here we aim to validate this model in a large cohort of AML/MDS patients receiving AHSCT with different donors.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
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Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leukemic transformation. Hematopoietic stressors may contribute to leukemic transformation by increasing the mutation rate in hematopoietic stem/progenitor cells (HSPCs) and/or by promoting clonal hematopoiesis. We sequenced the exome of individual hematopoietic colonies derived from 13 patients with congenital neutropenia to measure total mutation burden and performed error-corrected sequencing on a panel of 46 genes on 80 patients with congenital neutropenia to assess for clonal hematopoiesis....
Source: Blood - Category: Hematology Authors: Tags: Hematopoiesis and Stem Cells, Pediatric Hematology, Phagocytes, Granulocytes, and Myelopoiesis Source Type: research
, Khandanpour C, no Abstract Differentiation of haematopoietic stem cells is regulated by a concert of different transcription factors. Disturbed transcription factors function can be the basis of (pre)malignancies such as myelodysplastic syndrome or acute myeloid leukaemia. Growth factor independence 1b is a repressing transcription factor regulating quiescence of hematopoietic stem cellss and differentiation of erythrocytes and platelets. Here, we show that low expression of Growth factor independence 1b in blast cells is associated with an inferior prognosis of myelodysplastic syndrome and acute myeloid leukaem...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
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