Forthcoming Issues
Diagnostics Stewardship in Molecular Microbiology: From at-home Testing to Next Generation Sequencing (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - October 20, 2023 Category: Laboratory Medicine Source Type: research
Significance of SF3B1 Mutations in Myeloid Neoplasms
This article reviews the basic biology of SF3B1, iron metabolism, and dysfunction that leads to the formation of ring sideroblasts. It highlights neoplastic and non-neoplastic considerations to the differential diagnoses. Finally, a review on the evolution of the prognostic scoring system and treatment regimens that are available to patients with a diagnosis of MDS is presented. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - September 2, 2023 Category: Laboratory Medicine Authors: David C. Gajzer, Cecilia C.S. Yeung Source Type: research
Advances in Myelodysplastic Syndromes
The practice of laboratory medicine is becoming increasingly specialized to accurately diagnose and ultimately care for patients, particularly in the era of personalized medicine. Myelodysplastic syndromes/neoplasms (MDS) have been a recognized group of clonal myeloid diseases for decades, with a continually evolving understanding of their pathogenesis. MDS was originally defined by morphology and the number of blasts in peripheral blood and marrow. Later, the incorporation of cytogenetics and fluorescence in situ hybridization testing further helped to refine subclassification. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - August 26, 2023 Category: Laboratory Medicine Authors: Alexa J. Siddon Tags: Preface Source Type: research
Acute Myeloid Leukemia Arising from Myelodysplastic Syndromes
Myelodysplastic syndromes (MDS) are a group of myeloid neoplasms characterized by clonal hematopoiesis and abnormal maturation of hematopoietic cells, resulting in cytopenias. The transformation of MDS to acute myeloid leukemia (AML) reflects a progressive increase in blasts due to impaired maturation of the malignant clone, and thus MDS and many AML subtypes form a biological continuum rather than representing two distinct diseases. Recent data suggest that, in addition to previously described translocations, NPM1 mutations and KMT2A rearrangements are also AML-defining genetic alterations that lead to rapid disease progr...
Source: Clinics in Laboratory Medicine - August 18, 2023 Category: Laboratory Medicine Authors: Adelaide Kwon, Olga Weinberg Source Type: research
Diagnosis and Classification of Myelodysplastic Syndromes with Mutated TP53
The genetic underpinnings of myeloid neoplasms are becoming increasingly well understood. The accessibility to sequencing technology, in particular next-generation sequencing (NGS), has highlighted the importance of gene mutations in myelodysplastic syndromes (MDS) in conjunction with traditional cytogenetics. With the relatively recent influx of molecular information to complement known cytogenetic abnormalities, the diagnosis, classification, and prognosis of MDS and acute myeloid leukemia (AML) have been increasingly refined, which has also led to therapeutic advancements. It has been shown that TP53 mutations have a si...
Source: Clinics in Laboratory Medicine - August 18, 2023 Category: Laboratory Medicine Authors: Alexa J. Siddon, Olga K. Weinberg Source Type: research
Transfusion Support of Patients with Myelodysplastic Syndromes
Patients with MDS often suffer from anemia, and less often thrombocytopenia, and thus are a frequently transfused population. Red blood cell (RBC) transfusion may be used to improve functional capacity and quality of life in this population, while platelet transfusion is typically used to decrease bleeding risk. Despite the frequency of transfusion in patients with MDS, there are few well-defined guidelines for RBC and platelet transfusion support in this patient population. Transfusion is not without risk –patients with MDS who are frequently transfused may develop alloantibodies to RBC antigens, which can lead to hemol...
Source: Clinics in Laboratory Medicine - August 11, 2023 Category: Laboratory Medicine Authors: Juliana Guarente, Christopher Tormey Source Type: research
Morphologic Characteristics of Myelodysplastic Syndromes
Morphologic characterization remains a cornerstone in the diagnosis and classification of myelodysplastic syndromes (MDS) in the updated International Consensus Classification (ICC) and 5th edition World Health Organization Classification of Myeloid Neoplasms (Arber, Orazi,& Hasserjian, 2022; Khoury& Solary, 2022). The presence of dysplasia is one of the key diagnostic criteria required for establishing a diagnosis of MDS, and the percentage of myeloblasts in the blood and bone marrow impacts both disease classification and prognostication. Morphologic features also aid in distinguishing MDS from a myriad of other myeloid ...
Source: Clinics in Laboratory Medicine - August 9, 2023 Category: Laboratory Medicine Authors: Lisa D. Yuen, Robert P. Hasserjian Source Type: research
Germline Predisposition to Myeloid Neoplasms
Molecular and sequencing advances have led to substantial breakthroughs in the discovery of new genes and inherited mutations associated with increased risk of developing myeloid malignancies. Many of the same germline mutated genes are also drivers of malignancy in sporadic cancer. Recognition of myeloid malignancy associated with germline mutations is essential for proper therapy, disease surveillance, informing related donor selection for hematopoietic stem cell transplantation, and genetic counseling of the patient and affected family members. Some germline mutations are associated with syndromic features that precede ...
Source: Clinics in Laboratory Medicine - August 8, 2023 Category: Laboratory Medicine Authors: Ifeyinwa E. Obiorah, Kalpana D. Upadhyaya, Katherine R. Calvo Source Type: research
Treatment Considerations of Myelodysplastic Syndromes/Neoplasms for Pathologists
The diagnosis of myelodysplastic syndromes/neoplasms (MDS) has evolved over the years with the incorporation of genetic abnormalities to establish a diagnosis, their impact on risk stratification, prognostication, and therapeutic options. Hematopathologists are the cornerstone to establish an accurate diagnosis and ensure patients receive the best available treatment option. Hematopathologists and clinicians must work closely together to establish the best disease subclassification, by combining pathologic findings with the clinical presentation. This will ensure patients receive the best therapeutic approach by better und...
Source: Clinics in Laboratory Medicine - August 8, 2023 Category: Laboratory Medicine Authors: Yazan F. Madanat, Amer M. Zeidan Source Type: research
Childhood Myelodysplastic Syndrome
Myelodysplastic syndrome (MDS) in children is rare, accounting for (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - August 7, 2023 Category: Laboratory Medicine Authors: Karen M. Chisholm, Sandra D. Bohling Source Type: research
Flow Cytometric Assessment of Myelodysplastic Syndromes/Neoplasms
Myelodysplastic syndromes/neoplasms (MDS) are a heterogeneous class of hematopoietic stem cell neoplasms characterized by ineffective hematopoiesis leading to peripheral cytopenias. This group of diseases is typically diagnosed using a combination of clinical, morphologic, and genetic criteria. Many studies have described the value of multiparametric flow cytometry (MFC) in the diagnosis, classification, and prognostication of MDS. This review summarizes the approach to MDS diagnosis and immunophenotypic characterization using MFC and describes the current state while highlighting future opportunities and potential pitfall...
Source: Clinics in Laboratory Medicine - August 7, 2023 Category: Laboratory Medicine Authors: Xueyan Chen, Ulrika Johansson, Sindhu Cherian Source Type: research
Premalignant Clonal Hematopoiesis (Clonal Hematopoiesis of Indeterminate Potential and Clonal Cytopenia of Undetermined Significance)
Premalignant clonal hematopoiesis is the presence of somatic alterations in the blood of otherwise healthy individuals. Although the condition is not considered as a cancer, it carries an increased risk of developing a hematologic malignancy, particularly in those with large neoplastic clones, multiple pathogenic mutations, and high-risk mutations. In addition to the increased risk of malignancy, clonal hematopoiesis carries a markedly increased risk of cardiovascular events and death. Appropriate identification of this entity is critical to mitigate cardiovascular risk factors and ensure appropriate monitoring for the eme...
Source: Clinics in Laboratory Medicine - August 5, 2023 Category: Laboratory Medicine Authors: Kelly E. Craven, Mark D. Ewalt Source Type: research
Molecular Techniques and Gene Mutations in Myelodysplastic Syndromes
Sequencing technology, particularly next-generation sequencing, has highlighted the importance of gene mutations in myelodysplastic syndromes (MDSs). Mutations affecting DNA methylation, chromatin modification, RNA splicing, cohesin complex, and other pathways are present in most MDS cases and often have prognostic and clinical implications. Updated international diagnostic guidelines as well as the new International Prognostic Scoring System-Molecular incorporate molecular data into the diagnosis and prognostication of MDS. With whole-genome sequencing predicted to become the future standard of genetic evaluation, it is l...
Source: Clinics in Laboratory Medicine - August 5, 2023 Category: Laboratory Medicine Authors: Hadrian Mendoza, Alexa J. Siddon Source Type: research
Advances in Clinical Cytometry
CLINICS IN LABORATORY MEDICINE (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 21, 2023 Category: Laboratory Medicine Authors: Christopher B. Hergott Source Type: research
Copyright
Elsevier (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - July 21, 2023 Category: Laboratory Medicine Source Type: research
