Myelodysplasia

CONTEXT.—: BCR::ABL-negative myeloproliferative neoplasm (MPN) has a prolonged clinical course, and some cases eventually undergo transformation to blast phase; its pathogenesis remains to be elucidated. OBJECTIVE.—: To evaluate the clinicopathologic characteristics of MPN in blast phase. DESIGN.—: The study aimed to retrospectively analyze the clinical and laboratory data of 24 cases. RESULTS.—: Median latency to blast phase was 48 months (range, 7-384 months)...

In 2005, a new histologic variant of Sweet syndrome (SS) has been described and termed histiocytoid SS (HSS). Clinically, patients had a typical SS, but on skin biopsy, the infiltrates were composed of immature nonblast myeloid cells. Nearly 50% of patients with HSS have myelodysplastic syndrome (MDS). HSS may be the first manifestation leading to the diagnosis of MDS. In 2015, a new category of myeloid dermatosis has been proposed, called myelodysplasia cutis, describing the specific skin infiltration by myelodysplastic cells in patients with MDS...

Acute febrile neutrophilic dermatosis, or Sweet syndrome, has been described in 1964 and is now considered as a prototypical condition of the group of the neutrophilic dermatoses. Since this time, many clinical conditions have been included in this group and a clinical-pathological classification in 3 subgroups has been proposed. Neutrophilic infiltrates can localize in all internal organs. This defines the neutrophilic disease, which induces difficult diagnostic and therapeutic problems. Autoinflammation is the main pathophysiological mechanism of the neutrophilic dermatoses...

This study aimed to examine the characteristics and treatment outcomes of patients with TP53-mutant acute myeloid leukaemia (AML) and to explore potential prognostic factors. This retrospective analysis included 130 patients diagnosed with TP53-mutant AML at the Fujian Medical University Union Hospital between January 2016 and June 2023. Patients' ages ranged from 17 to 80 years, with a median age of 59 years. The proportions of de novo, therapy-related, and secondary AML cases were 71.5%, 7.7%, and 20.8%, respectively...

BACKGROUND: Acute myeloid leukemia (AML) with myelodysplasia-related characteristics is a heterogeneous subset of AML that has been challenged throughout the history of myeloid malignancies classifications, considered to have similar outcomes as intermediate- or adverse-risk AML depending on the subgroup. However, little is known about the fate of these patients in refractory or relapsed situation (R/R) after first line therapy. METHODS: A large series of R/R AML patients, recorded in the French DATAML registry, have received either intensive chemotherapy (ICT), azacitidine (AZA) as single agent, or best supportive care (BSC)...

Objective: To evaluate the clinical and prognostic differences in acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) children under different diagnostic criteria (World Health Organization (WHO) 2016 and WHO 2022 criteria). Methods: In this retrospective cohort study, clinical characteristics and prognosis information of 260 acute myeloid leukemia (AML) children admitted to Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences from August 2017 to August 2021 were analyzed retrospectively...

Subtyping of acute myeloid leukaemia (AML) is predominantly based on recurrent genetic abnormalities, but recent literature indicates that transcriptomic phenotyping holds immense potential to further refine AML classification. Here we integrated five AML transcriptomic datasets with corresponding genetic information to provide an overview (n = 1224) of the transcriptomic AML landscape. Consensus clustering identified 17 robust patient clusters which improved identification of CEBPA-mutated patients with favourable outcomes, and uncovered transcriptomic subtypes for KMT2A rearrangements (2), NPM1 mutations (5), and AML with myelodysplasia-related changes (AML-MRC) (5)...

To compare the main features of patients with secondary acute myeloid leukemias (AMLs) after post-myelodysplastic syndrome (AML-post-MDS) or post-myeloproliferative neoplasms (AML-post-MPN) and myeloid blast crisis of chronic myeloid leukemia (CML-BC) vs. de novoAMLs with myelodysplastic characteristics (dn-AML-MDS).

Myelodysplastic syndrome (MDS) is a rare clonal hematopoietic disorder in children. The risk stratification system and treatment strategy for adults are unfit for children. The role of hypomethylating agents (HMAs) in higher-risk childhood MDS has not been identified. This study aimed to investigate the outcomes of hematopoietic stem cell transplantation (HSCT) in children with higher-risk MDS at one single center. A retrospective study was conducted in children with higher-risk MDS undergoing HSCT between September 2019 and March 2023 at Blood Diseases Hospital CAMS...

The proposed 5th edition of the WHO classification of hematolymphoid tumors (WHO-HAEM5) and International Consensus Classification (ICC) employ different definitions of acute myeloid leukemia with myelodysplasia-related genetics (AML-MR). We conducted a retrospective study which included a cohort of 432 patients treated at our institution, with 354 WHO-AML-MR patients if classified according to WHO-HAEM5 or 276 ICC-AML-MR by gene mutation or cytogenetics (ICC-AML-MR-M/CG) patients if classified according to ICC...

CPX-351, a liposomal combination of cytarabine plus daunorubicin, has been approved for the treatment of adults with newly diagnosed, therapy-related acute myeloid leukaemia (t-AML) or AML with myelodysplasia-related changes as it improves survival and outcome of haematopoietic stem cell transplanted patients as compared to the continuous infusion of cytarabine plus daunorubicin (referred to as "7+3" combination). Because gut dysbiosis occurring in patients with AML during induction chemotherapy heavily impacts on the subsequent phases of therapy, we have assessed whether the superior activity of CPX-351 versus "7+3" combination in the real-life setting implicates an action on and by the intestinal microbiota...

mDia formin proteins regulate the dynamics and organization of the cytoskeleton through their linear actin nucleation and polymerization activities. We previously showed that mDia1 deficiency leads to aberrant innate immune activation and induces myelodysplasia in a mouse model, and mDia2 regulates enucleation and cytokinesis of erythroblasts and the engraftment of hematopoietic stem and progenitor cells (HSPCs). However, whether and how mDia formins interplay and regulate hematopoiesis under physiological and stress conditions remains unknown...

OBJECTIVE: We sought to evaluate the use of quantitative Dixon (Q-Dixon) and intravoxel incoherent motion diffusion imaging (IVIM) for the differential diagnosis of aplastic anemia (AA) and acute myeloid leukemia (AML). METHODS: Between August 2021 and October 2023, we enrolled 68 diagnosed patients, including 36 patients with AA and 32 patients with AML, as well as 26 normal controls. All patients underwent 3-Tesla magnetic resonance imaging, which included IVIM and T2*-corrected Q-Dixon imaging at the L2-4 level...

BACKGROUND: The European LeukemiaNet (ELN) risk classification system for acute myeloid leukemia (AML) patients has been used worldwide. In 2022, the ELN risk classification system modified risk genes including CEBPA mutation status, myelodysplasia-related (MR) gene mutations and internal tandem duplications of FLT3 (FLT3-ITD). METHODS: We include newly diagnosed de novo AML patients at our center from January 2017 to December 2021, regardless of the further treatment received...

The goal of a disease classification system is (or should be) to provide a tool for researchers and clinicians to study and treat the disease. The last decade has seen a markedly improved understanding of the pathophysiology of acute myeloid leukemia (AML), the development of new methods to measure the disease, and approval by the Food and Drug Administration (FDA) of at least ten new therapies targeted to its treatment. In response, in 2022 one updated and one new AML classification system were published. In the same year, the European LeukemiaNet updated their recommendations about how to incorporate the advances in diagnosis and treatment into the risk stratification of AML and its treatment...

Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic neoplasms resulting from mutations in stem cells. They carry a risk of transformation to acute myeloid leukemia. Cutaneous manifestations of MDS, including myelodysplasia cutis or infiltration by MDS tumor cells, are rare, but significantly associated with increased risk of progression to high-grade myeloid tumors. The clinical and histopathologic differential diagnosis for myelodysplasia cutis includes interstitial granulomatous dermatitis (IGD), a reactive granulomatous dermatitis (RGD) associated with systemic diseases including rheumatologic diseases, and hematologic malignancy like MDS...

INTRODUCTION: Chronic Myelomonocytic Leukemia (CMML) and Myelodysplastic Syndromes (MDS) are increasingly represented in the general population. We propose a screening strategy based on algorithms calculated from quantitative and analytical data from the XN analyser. MATERIALS AND METHODS: We tested the performance of previously published MDS and CMML scores on an evaluation cohort of 749 individual eligible patients over 50 years of age. These patients were classified into 3 groups as follows: 713 patients without MDS or CMML, 18 patients with MDS, and finally 18 patients with CMML...

The design of clinical protocols and the selection of drugs with appropriate posology are critical parameters for therapeutic outcomes. Optimal therapeutic protocols could ideally be designed in all diseases including for millions of patients affected by excess iron deposition (EID) toxicity based on personalised medicine parameters, as well as many variations and limitations. EID is an adverse prognostic factor for all diseases and especially for millions of chronically red-blood-cell-transfused patients. Differences in iron chelation therapy posology cause disappointing results in neurodegenerative diseases at low doses, but lifesaving outcomes in thalassemia major (TM) when using higher doses...

CPX-351, a dual-drug liposomal encapsulation of daunorubicin and cytarabine in a 1:5 molar ratio, is approved for the treatment of newly diagnosed therapy-related acute myeloid leukemia (AML) or AML with myelodysplasia-related changes. In a pivotal phase III trial, CPX-351 significantly improved overall survival compared with standard-of-care 7 + 3 chemotherapy (7 days cytarabine; 3 days daunorubicin) in adults aged 60-75 years with newly diagnosed high-risk or secondary AML (median = 9.56 months vs. 5.95 months; hazard ratio = 0...

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