Myelodysplastic syndromes: 2023 update on diagnosis, risk‐stratification, and management

Abstract

Disease overview: The 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. Diagnosis: Diagnosis 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, and molecular genetics is usually complementary and may help refine diagnosis. A new WHO classification of MDS was proposed in 2022. Under this classification, MDS is now termed myelodysplastic neoplasms. Risk-stratification: Prognosis of patients with MDS can be calculated using a number of scoring systems. All these scoring systems include analysis of peripheral cytopenias, percentage of blasts in the bone marrow, and cytogenetic characteristics. The most commonly accepted system is the Revised International Prognostic Scoring System (IPSS-R). Recently, genomic data has been incorporated resulting in the new IPSS-M classification.Risk-adapted therapy: Therapy is selected based on risk, transfusion needs, percent of bone marrow blasts, cytogenetic and mutational profiles, comorbidities, potential for allogeneic stem cell transplantation (alloSCT), and prior exposure to hypomethylating agents (HMA). Goals of therapy are different in lower risk patients than in higher risk and in those with HMA failure. In lower risk, the goal is to decrease transfusion needs and transformation to higher risk disease or AML, as well as to improve survival. In higher risk, the goal is to prolong survival. In 2020, two agents were approved in the US for patients with MDS: luspatercept and oral decitabine/cedazuridine. In addition, currently other available therapies include growth factors, lenalidomide, HMAs, intensive chemotherapy, and alloSCT. A number of phase 3 combinations studies have been completed or are ongoing at the time of this report.At the present time there are no approved interventions for patients with progressive or refractory disease particularly after HMA based therapy. In 2021, several reports indicated improved outcomes with alloSCT in MDS as well as early results from clinical trials using targeted intervention.

Role of reactive oxygen species in myelodysplastic syndromes

“…Leitch et al. reported that patients with transfusion-dependent LR-MDS had significantly longer median overall survival time after receiving ICT from the onset of transfusion dependence compared with those who did not [ 198 ], and the survival advantage persisted even after conducting a matched pair analysis that accounted for age, frailty, comorbidities, and R-IPSS [ 199 ]. Recent studies of 2200 patients with MDS, of whom 224 received ICT, also confirmed that ICT can ameliorate the overall survival and hematopoiesis of transfused patients with LR-MDS.…”

Raman Spectroscopy as a Research and Diagnostic Tool in Clinical Hematology and Hematooncology

“…Validation specificity ranged between 92% and 100% and sensitivity between 75 and 100% [ 78 ]. Serum-based Raman spectral analysis could be a rapid label-free identification tool that would improve the diagnostic efficiency of MDS and AML as MDS can develop into secondary AML and its diagnostics is mostly exclusive [ 79 ].…”

Myelodysplastic syndrome with IgG4‑related disease: A case report

“…The etiology of this disease is unknown and may be related to genetic, infectious or immune factors ( 2 ). In individuals aged ≥60 years, the prevalence was 7–35 cases per 100,000 individuals over the last two decades ( 3 ). MDS can be categorized into subtypes that are associated with lower or higher risk for acute myeloid leukemia transformation, which assists with therapy selection.…”

“…For those with higher-risk MDS, hypomethylating agents such as azacitidine, or decitabine, are first-line therapy. Hematopoietic cell transplantation is considered for higher-risk patients and represents the only potential cure ( 3 ). IgG4-related disease (IgG4-RD) is an immune-mediated progressive inflammatory disease associated with fibrosis ( 4 ), a specific organ predisposition involving the submandibular glands, parotid glands, lymph nodes, liver, and biliary tract ( 5 ).…”