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Articles by Constance Baer
Two ways to complex karyotype in MDS—the role of del(5q) and TP53 - Blood Cancer Journal
Dear Editor, Myelodysplastic neoplasms (MDS) are defined as clonal hematopoietic stem cell neoplasms characterized by cytopenias and morphological dysplasia, and ineffective hematopoiesis with an increased risk of leukemic transformation [1]. In addition, MDS are very heterogeneous with respect to their underlying genetic landscape encompassing also cytogenetic abnormalities [2].
Parallel genomic analysis from paired bone marrow and peripheral blood samples of 200 cytopenic patients - Leukemia
To the Editor: Bone marrow (BM) analysis is required for morphological and genetic assessment in patients evaluated for myelodysplastic neoplasms (MDS) and thus currently represents the gold standard in patients with unexplainable cytopenia [1, 2].
Genomic landscape of CCUS compared to MDS and its implications on risk prediction - Leukemia
To the Editor: The 5th edition of the WHO classification (WHO HAEM5) newly included myeloid precursor lesions introducing clonal cytopenia of undetermined significance (CCUS) as an entity [1]. CCUS is defined as clonal hematopoiesis (CH) in the presence of unexplained, persistent cytopenia requiring detection of either somatic mutations in certain genes or clonal chromosomal abnormalities. Discriminating CCUS from MDS primarily relies on morphologic bone marrow (BM) dysplasia.
Risk assessment according to IPSS-M is superior to AML ELN risk classification in MDS/AML overlap patients defined by ICC - Leukemia
To the Editor: MDS/AML overlap has recently been introduced as novel myeloid disease entity by the International Consensus Classification (ICC) with 10–19% blasts in the absence of AML-defining recurrent genetic abnormalities, acknowledging the biologic continuum between MDS and AML [1]. MDS/AML is not recognized as separate entity according to the 5th edition of the WHO classification (WHO 2022; [2]) where it largely overlaps with MDS with increased blasts 2 (MDS-IB2).
UBA1 Non-M41 Variants Are More Aggressive than UBA1 M41 Variants in Their Haematological Manifestations
BACKGROUND AND AIMS In 2020, three somatic mutations in the X-linked gene UBA1, coding for an essential ubiquitin activating enzyme, were reported to cause VEXAS syndrome, a novel haemato-inflammatory disease that manifests with both cytopenias and autoinflammation.1 The mutations alter the start codon (M41) of the cytoplasmic isoform of UBA1, resulting in the cytoplasmic-only loss of function of UBA1.
AML classification in the year 2023: How to avoid a Babylonian confusion of languages - Leukemia
Abstract In parallel to the 5th edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO 2022), an alternative International Consensus Classification (ICC) has been proposed. To evaluate the impact of the new classifications on AML diagnoses and ELN-based risk classification, we analyzed 717 MDS and 734 AML non-therapy-related patients diagnosed according to the revised 4th WHO edition (WHO 2017) by whole genome and transcriptome sequencing.
MDS subclassification—do we still have to count blasts? - Leukemia
Since their definition, the classification of myelodysplastic neoplasms (MDS) relied on cytomorphology determining dysplasia, cytopenia, and blast count [1, 2]. The revised 4th edition of the WHO classification (WHO 2017) [3], encompasses only one genetically defined entity (MDS with isolated del(5q)). Since then, next-generation sequencing identified many driver genes in MDS [4,5,6].
Risk prediction in MDS: independent validation of the IPSS-M—ready for routine? - Leukemia
Myelodysplastic neoplasms (MDS) are clonal disorders of hematopoietic cells characterized by peripheral cytopenias, morphologic dysplasia, ineffective hematopoiesis and risk of leukemic transformation (LT) [1, 2]. Biology and clinical outcome within MDS are extremely heterogeneous, making individual risk prediction key for management and therapy decision.
Molecular patterns in cytopenia patients with our without evidence of myeloid neoplasm-a comparison of 756 cases
1.Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391–405.2.Malcovati L, Hellstrom-Lindberg E, Bowen D, Ades L, Cermak J, Del Canizo MC, et al. Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet. Blood.
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