Myelodysplastic syndromes: 2018 update on diagnosis, risk ‐stratification and management

Abstract Disease overviewThe myelodysplastic syndromes (MDS) are a very heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic therapy. DiagnosisDiagnosis of MDS is based on morphological evidence of dysplasia upon visual examination of a bone marrow aspirate and biopsy. Information obtained from additional studies such as karyotype, flow cytometry or molecular genetics is usually complementary and may help refine diagnosis. Risk‐stratificationPrognosis of patients with MDS can be calculated using a number of scoring systems. In general, all these scoring systems include analysis of peripheral cytopenias, percentage of blasts in the bone marrow and cytogenetic characteristics. The most commonly used system is probably the International Prognostic Scoring System (IPSS). IPSS is now replaced by the revised IPSS‐R score. Although not systematically incorporated into new validated prognostic systems, somatic mutations can help define prognosis and should be considered as new prognostic factors. Risk‐adapted therapyTherapy is selected based on risk, transfusion needs, percent of bone marrow blasts and cytogenetic and mutational profiles. Goals of therapy are different in lower risk patients than in higher risk. In lower risk, the goal is to decrease transfusion needs and transfor...
Source: American Journal of Hematology - Category: Hematology Authors: Tags: ANNUAL CLINICAL UPDATES IN HEMATOLOGICAL MALIGNANCIES Source Type: research

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Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, ch...
Source: Molecular Cytogenetics - Category: Molecular Biology Authors: Tags: Case Report Source Type: research
We present a 2-year-old boy with splenomegaly, leukocytosis, thrombocytopenia, anemia, and excess myeloblasts with easily seen Auer rods, and marked dysgranulopoiesis and dyserythropoiesis. Conventional cytogenetic analysis showed a sole abnormality of t(3;5)(q25;q35). Microarray analysis showed a terminal 21 Mb region of copy-neutral loss of heterozygosity on 19q. Disease-related somatic NRAS mutation was detected. This case represents an unusual JMML with Auer rods and marked myelodysplasia. These unusual histopathologic features may be related to the t(3;5)(q25;q35). A t(3;5) with variable breakpoints has been reported ...
Source: Pathology Research and Practice - Category: Pathology Source Type: research
Publication date: August 2018Source: Hematology/Oncology Clinics of North America, Volume 32, Issue 4Author(s): Sharon A. Savage, Michael F. Walsh
Source: Hematology Oncology Clinics of North America - Category: Hematology Source Type: research
This study was aimed to investigate clinical characteristics and treatment outcomes of pulmonary invasive fungal infection (IFI) among patients with hematological malignancy.MethodsAll patients with hematological malignancy who were treated at a medical centre from 2008 to 2013 were evaluated. Pulmonary IFI was classified according to the European Organization for Research and Treatment of Cancer 2008 consensus.ResultsDuring the study period, 236 (11.3%) of 2083 patients with hematological malignancy were diagnosed as pulmonary IFI, including 41 (17.4%) proven, 75 (31.8%) probable, and 120 (50.8%) possible cases. Among the...
Source: Journal of Microbiology, Immunology and Infection - Category: Microbiology Source Type: research
Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid diseases characterized by ineffective hematopoiesis, peripheral blood (PB) cytopenia and a tendency to evolve into acute myeloid leukemia (AML). Patients with lower risk (LR)-MDS present with moderate to severe anemia in the majority of cases, due to ineffective hematopoiesis [1,2]. Current guidelines for anemia in LR-MDS recommend treatment with erythropoiesis stimulating agents (ESA) provided that hemoglobin (Hb) levels are lower than 10  g/dl and serum erythropoietin (EPO) lower than 500 IU/L [3].
Source: Leukemia Research - Category: Hematology Authors: Tags: Letter to the Editor Source Type: research
Publication date: August 2018Source: Hematology/Oncology Clinics of North America, Volume 32, Issue 4Author(s): Sharon A. Savage, Michael F. Walsh
Source: Hematology Oncology Clinics of North America - Category: Hematology Source Type: research
Acquired aplastic anemia and inherited bone marrow failure syndromes both present with pancytopenia and must be distinguished because they have differences in treatment decisions and continued monitoring requirements. Advances in the genetic interrogation of patient samples have led to identification of inherited germline diseases and appreciation that patients with inherited bone marrow failure disorders may be normal in appearance with few expected clinical clues. Somatic mutations in aplastic anemia may have prognostic value. Hematopoietic stem cells from inherited marrow failure diseases can correct the proliferative d...
Source: Hematology/Oncology Clinics of North America - Category: Cancer & Oncology Authors: Source Type: research
Fanconi anemia (FA) is a DNA repair disorder associated with a high risk of cancer and bone marrow failure. Patients with FA may present with certain dysmorphic features, such as radial ray abnormalities, short stature, typical facies, bone marrow failure, or certain solid malignancies. Some patients may be recognized due to exquisite sensitivity after exposure to cancer therapy. FA is diagnosed by increased chromosomal breakage after exposure to clastogenic agents. It follows autosomal recessive and X-linked inheritance depending on the underlying genomic alterations. Recognizing patients with FA is important for therapeu...
Source: Hematology/Oncology Clinics of North America - Category: Cancer & Oncology Authors: Source Type: research
We present a 2-year-old boy with splenomegaly, leukocytosis, thrombocytopenia, anemia, and excess myeloblasts with easily seen Auer rods, and marked dysgranulopoiesis and dyserythropoiesis. Conventional cytogenetic analysis showed a sole abnormality of t(3;5)(q25;q35). Microarray analysis showed a terminal 21 Mb region of copy-neutral loss of heterozygosity on 19q. Disease-related somatic NRAS mutation was detected. This case represents an unusual JMML with Auer rods and marked myelodysplasia. These unusual histopathologic features may be related to the t(3;5)(q25;q35). A t(3;5) with variable breakpoints has been reported ...
Source: Pathology Research and Practice - Category: Pathology Source Type: research
Conclusion: Complex karyotype was most frequently associated with myelodysplastic syndromes and acute myeloid leukemia. Trisomy 21 and deletion 5q were the commonest cytogenetic abnormalities found. We also assessed complex karyotype in benign diseases and detected one patient of aplastic anemia with complex karyotype. This is the first study highlighting the presence of complex karyotypes in hematological disorders in our region. PMID: 29971104 [PubMed]
Source: Journal of Oncology - Category: Cancer & Oncology Tags: J Oncol Source Type: research
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