Immunophenotypic, cytogenetic, and mutational features of chronic lymphocytic leukemia/small lymphocytic lymphoma with atypical immunophenotype.

Flow cytometric analysis plays an important role in the diagnosis of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Most CLL cases show a typical immunophenotype characterized by the expression of CD5, CD23, CD43, ROR1, and CD200, along with dim expression of B-cell markers. However, some show an atypical immunophenotype.

Optical Genome Mapping in Myelodysplastic Syndromes: Clinical Value and Limitations Derived from a Cohort of 236 Patients.

Identification of cytogenetic abnormalities is critical for the classification and risk stratification of myelodysplastic syndromes (MDS). Optical genome mapping (OGM) is an emerging cytogenomic platform that enables high-resolution genome-wide cytogenetic analysis. We analyzed bone marrow specimens of 236 MDS patients, 149 newly diagnosed and 87 with relapsed/refractory disease, using OGM, conventional karyotyping and next-generation sequencing analysis.

Technical and Clinical Validity of Assessing Measurable Residual Disease by Multicolor Flow Cytometry in an Unselected Acute Myeloid Leukemia Patient Cohort.

Context.—: Following the validation of a multicolor flow cytometry (MFC) assay for measurable residual disease (MRD) in acute myeloid leukemia (AML), this study examines its clinical applicability.

Objective.

Optical genome mapping reveals diverse mechanisms of cyclin activation in mantle cell lymphomas lacking IGH::CCND1.

The t(11;14)(q13; q32)/IGH::CCND1 is a genetic hallmark of mantle cell lymphoma (MCL), reported to be present in about 95% of cases. In this study, we performed optical genome mapping (OGM) on 91 patients with MCL, in conjunction with next-generation sequencing (NGS), conventional chromosomal analysis and fluorescence in situ hybridization (FISH). The t(11;14)/IGH::CCND1 was detected in 82 cases, whereas 9 (10%) cases lacked this abnormality.

Clinical Utility of Optical Genome Mapping as an Additional Tool in a Standard Cytogenetic Workup in Hematological Malignancies.

Background And Objective: The primary objective of this study is to evaluate the added value of optical genome mapping (OGM) when integrated into the standard cytogenetic workup (SCGW) for hematological malignancies.

Methods: The study cohort comprised 519 cases with different types of hematological malignancies. OGM and SCGW (including G-banded karyotyping and fluorescence in situ hybridization) were performed on blood and/or bone marrow.

Unusually Indolent CML: Absence of Complete Cytogenetic Response after 10 Years of Tyrosine Kinase Inhibitor Therapy.

Background: With BCR::ABL1 tyrosine kinase inhibitor (TKI) therapy, most patients with chronic-phase chronic myeloid leukemia (CML-CP) can achieve complete cytogenetic response (CCyR) within 6 months of therapy. However, no studies have investigated patients who do not achieve CCyR yet maintains stable disease on long-term TKI treatment. Here we investigated 30 CML-CP patients who did not achieve CCyR but remained free of blastic progression for at least 10-year while on TKI therapy.

BCL11B helps to define T-lineage in lymphomas/leukaemias with a mixed/ambiguous immunophenotype.

BCL11B is a pan-T-cell transcription factor that plays a pivotal role in guiding T-cell differentiation and maturation. BCL11B is lineage specific, and its expression is confined to T cells; B, NK ​and myeloid cells are usually negative. In this study, we aim to explore the value of BCL11B in the diagnosis and differential diagnosis of lymphomas/leukaemias exhibiting an ambiguous immunophenotype or which simultaneously express both T- and B-cell markers.

Steroids combined with anticoagulant in acute/subacute severe cerebral venous thrombosis.

Background: Inflammation plays a critical role in severe cerebral venous thrombosis (CVT) pathogenesis, but the benefits of anti-inflammatory therapies remain unclear. This study aimed to investigate the association between steroid therapy combined with anticoagulation and the prognosis of acute/subacute severe CVT patients.

Methods: A prospective cohort study enrolled patients with acute/subacute severe CVT at Xuanwu Hospital (July 2020-January 2024).

Chromoanagenesis Is Frequently Associated With Highly Complex Karyotypes, Extensive Clonal Heterogeneity, and Treatment Refractoriness in Acute Myeloid Leukemia.

Chromoanagenesis (CAG) encompasses a spectrum of catastrophic genomic events, including chromothripsis, chromoanasynthesis, and chromoplexy. We studied CAG in 410 patients with a diagnosis of acute myeloid leukemia (AML), 292 newly diagnosed (ND), and 118 refractory/relapsed, using optical genome mapping. CAG was identified by the presence of clusters (with 10 or more breakpoints) of structural abnormalities and/or segmental copy number alterations within one or more chromosomal regions.

Differences of longitudinal plasma biomarkers between single memory domain and multidomain subject cognitive decline: Evidence from SILCODE.

Background: Plasma biomarkers demonstrated potential in identifying amyloid pathology in early Alzheimer's disease. Different subtypes of subjective cognitive decline (SCD) may lead to different cognitive impairment conversion risks.

Objective: To investigate the differences of plasma biomarkers in SCD subtypes individuals, which were unclear.

Detection of Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.

partial tandem duplication (PTD) involves intragenic duplications and has been associated with poorer prognosis. In this study, we evaluated PTD in 1277 patients with hematological malignancies using optical genome mapping (OGM). PTD was detected in 35 patients with acute myeloid leukemia (AML) (7%), 5 patients with myelodysplastic syndrome (MDS) (2.

The Synchronous Diagnosis of Multiple Myeloma (MM) and Chronic Myeloid Leukemia (CML).

The synchronous presentation of chronic myeloid leukemia (CML) and multiple myeloma (MM) is extremely rare. CML is a myeloproliferative neoplasm originating from an abnormal pluripotent hematopoietic stem cell. It is associated with the - fusion gene located on the Philadelphia chromosome.

Optical Genome Mapping for Detection of -Another Tool in Our Toolbox.

fusion is mostly derived from a reciprocal translocation t(9;22)(q34.1;q11.2) and is rarely caused by insertion.

Learning Virtual View Selection for 3D Scene Semantic Segmentation.

2D-3D joint learning is essential and effective for fundamental 3D vision tasks, such as 3D semantic segmentation, due to the complementary information these two visual modalities contain. Most current 3D scene semantic segmentation methods process 2D images "as they are", i.e.