1. Disease characteristics and outcomes of acute myeloidleukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy)Martijn P. T. Ernst, Jurjen Versluis, Peter J. M. Valk, Marc Bierings, Rienk Y. J. Tamminga, Louise H. Hooimeijer, Helena Podgornik, Matjaž Sever, 2025, izvirni znanstveni članek Povzetek: Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, RUNX1-FPD), caused by monoallelic deleterious germline RUNX1 variants, is characterized by bleeding diathesis and predisposition for hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Clinical data on FPDMM-associated AML (FPDMM-AML) are limited, complicating evidence-based clinical decision-making. Here, we present retrospective genetic and clinical data of the largest cohort of FPDMM patients reported to date. We describe 159 European patients (from 94 families) of whom 134 were evaluable for the development of malignant disease. Sixty developed a hematologic malignancy (44.8%), most frequently AML (36/134, 26.9%) or MDS (18/134, 13.4%). Somatic alterations of RUNX1 by gene mutation (48%) and chromosome 21 aberrations (14.3%) were the most common somatic genetic aberrations in FPDMM-AML, followed by FLT3-ITD mutations (24.1%). Somatic RUNX1 and FLT3-ITD mutations were not detected in FPDMM-associated MDS, suggesting important contributions to leukemic transformation. Remission-induction chemotherapy resulted in complete remission in 80% of FPDMM-AML patients with a 5-year overall survival (OS) of 50.4%. Survival outcome was non-inferior compared to a large cohort of newly diagnosed adult RUNX1-mutated AML (5-year OS 36.6%, p = 0.5), with relatively infrequent concurrent adverse risk somatic aberrations (ASXL1 mutation, monosomal karyotype, monosomy 5/del 5q) in FPDMM-AML. Collectively, data support the notion that step-wise leukemic evolution in FPDMM is associated with distinct genetic events and indicate that a substantial subset of FPDMM-AML patients achieves prolonged survival with conventional AML treatment, including allogeneic stem cell transplant. These findings are anticipated to inform personalized clinical decision-making in this rare disorder
Ključne besede: acute myeloidleukemia, Familial Platelet Disorder
Objavljeno v DiRROS: 27.02.2026; Ogledov: 112; Prenosov: 26
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2. A case report and a literature review of Myeloid/Lymphoid Neoplasm with Eosinophilia and PCM1::JAK2 rearrangement representing as B-cell acute lymphoblastic leukemia B-ALLLuka Čemažar, Klara Šlajpah, Njetočka Gredelj Šimec, Helena Podgornik, 2026, izvirni znanstveni članek Povzetek: Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions (MLN-eo-TK) represent a distinct and heterogeneous group of hematologic malignancies characterized by recurrent gene fusions involving tyrosine kinases, such as PDGFRA, PDGFRB, FGFR1, JAK2, FLT3, ETV::ABL1 and other partner genes/variants. Among these, gene rearrangements involving PCM1::JAK2 are rare and may present diagnostic challenges, particularly when manifesting as acute lymphoblastic leukemia (ALL). We describe a case of a patient who presented with B-cell acute lymphoblastic leukemia (B-ALL) with a JAK2 rearrangement. After the induction therapy, strong myeloid proliferation in bone marrow without evidence of residual lymphoblasts was observed and JAK2 rearrangement was recognized to be a consequence of translocation t(8;9)(p22;p24)] resulting in PCM1::JAK2 fusion. This finding indicated the presence of an underlying chronic myeloid/lymphoid neoplasm, meeting criteria for MLN-eo-TK. Following an inadequate response to standard chemotherapy, salvage regimens incorporating targeted agents (JAK2 and BCL-2 inhibitors) and allogeneic bone marrow transplantation were administered, all of which unfortunately resulted in short-lived clinical benefit. The case highlights the importance of distinguishing de novo lymphoid malignancies from MLN-eo-TK, especially when JAK2 rearrangements are detected. Recognition of the clonal myeloid component during or after lymphoid-directed therapy has important diagnostic and therapeutic implications, supporting the use of targeted JAK2 inhibition in addition to standard chemotherapy
Ključne besede: Eosinophilia, MLN-eo-TK, PCM1:JAK2, B-ALL, acute lymphoblastic leukemia, therapy, lymphoid malignancies
Objavljeno v DiRROS: 16.01.2026; Ogledov: 191; Prenosov: 97
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3. Precursor dendritic cell proliferation in multiple myeloma : a precursor to acute myeloid leukemiaKatarina Reberšek, Saša Anžej Doma, Matevž Škerget, Helena Podgornik, 2026, drugi znanstveni članki Povzetek: Background: Dendritic cells (DCs) are heterogeneous antigen-presenting cells that bridge innate and adaptive immunity. Recent classifications of hematolymphoid neoplasms highlight the complex origins of DC-related neoplasms. DCs have also been associated with the progression of multiple myeloma (MM). This report presents the case of a patient with MM in whom bone marrow analysis revealed an unusual additional clonal population of immature cells, in addition to plasmacytoid DCs, that later evolved into plasmacytoid dendritic cell proliferation associated with acute myeloid leukemia (pDC-AML). Methods: The bone marrow of a 69-year-old man with neutropenia and thrombocytopenia was examined by morphology, immunohistochemistry, flow cytometry, cytogenetics, fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS). Serial assessments were performed before and during treatment with bortezomib and dexamethasone for MM, and later with daunorubicin/cytarabine for AML. Results: Initial bone marrow analysis revealed coexisting clonal plasma cells with t(11;14) and a population of CD34+/CD123+/CD45RA+ cells lacking lineage markers, in addition to pDCs, suggestive of precursor DCs rather than acute undifferentiated leukemia. Cytogenetic analysis identified a small clone with isolated del(20q), which corresponded in size to the clone of undifferentiated cells and to the clone with pathogenic variants detected by NGS in the BCOR, RUNX1, and SRSF2 genes. Myeloma therapy decreased both MM and undifferentiated cells; however, within four months, pDC-AML evolved with del(20q) and higher variant allele frequencies of the previously detected gene variants. Remission was achieved with standard AML chemotherapy. Conclusions: This case supports evidence that MM-associated immune dysfunction and bone marrow niche alterations may promote secondary myeloid malignancies independently of cytotoxic therapy. It demonstrates the earliest events in pDC-AML evolution. Furthermore, the immature immunophenotype raises the question of appropriate treatment, since a diagnosis of acute undifferentiated leukemia can be established.
Ključne besede: dendritic cells, multiple myeloma, acute undifferentiated leukemia
Objavljeno v DiRROS: 05.01.2026; Ogledov: 388; Prenosov: 141
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4. Adjuvant treatment with empagliflozin or semaglutide increases endothelial progenitor cells in subjects with well-controlled type 1 diabetes mellitusMaja Navodnik-Preložnik, Katarina Reberšek, Katarina Klinar, Andrej Janež, Helena Podgornik, 2025, izvirni znanstveni članek Povzetek: Circulating endothelial cells (CECs) and endothelial progenitor cells (EPCs) are promising markers of vascular damage and endothelial regeneration potential. We focused on the detection of CECs and EPCs using flow cytometry with regard to analytical challenges and its suitability for routine testing. As part of a clinical validation, CECs and EPCs were measured in blood samples from 83 subjects with type 1 diabetes (T1DM), evaluating an adjuvant intervention with two different antidiabetic drugs, empagliflozin (N = 28) and semaglutide (N = 29). Both groups receiving adjuvant therapy were compared with the insulin-only group (N = 26) at two time points: before the start of therapy and after 12 weeks of adjuvant therapy. All three groups were comparable regarding demographic characteristics and concomitant risk factors. Absolute and relative endothelial cell count at baseline were low and comparable to those of healthy individuals. In the group receiving empagliflozin or semaglutide, a significant increase in EPC was observed after 12 weeks of treatment. We demonstrated that EPCs have the potential to serve as markers for monitoring the efficacy of adjuvant therapy in T1DM patients. However, before their implementation in clinical practice, the flow cytometry protocol for CEC and EPC identification and quantification must be standardized.
Ključne besede: flow cytometry, type 1 diabetes mellitus, endothelial progenitor cells
Objavljeno v DiRROS: 28.11.2025; Ogledov: 439; Prenosov: 170
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5. A cross-sectional study of laboratory parameters 5–6 months after the first COVID-19 infectionTaja Zore, Jasna Lojk, Katarina Reberšek, Elizabeta Božnar Alič, Urška Čegovnik Primožič, Alenka France Štiglic, Aleš Jerin, Irena Prodan Žitnik, Helena Podgornik, Nada Snoj, Barbara Ostanek, Gabriele Turel, Tatjana Lejko-Zupanc, Janja Marc, Darko Černe, 2025, izvirni znanstveni članek Povzetek: Objectives: Despite extensive study of COVID-19 disease, only a few studies also addressed the aftermath of the disease and potential long-term consequences. The aim of this study was to assess COVID-19 resolution through the cross-sectional analysis of an extensive range of haematological and biochemical laboratory parameters and to find potential markers still associated with disease severity 5-6-months post infection.
Methods: In this study, we analysed 92 routine biochemical, haematological and immunological parameters in 75 non-vaccinated patients 5–6 months after recorded first time SARS-CoV-2 infection without reinfection. Demographic and disease severity data were obtained through surveys.
Results: The majority of analysed parameters were within the normal reference intervals, however, statistically significant correlations with the disease severity were detected in 15 parameters: B lymphocytes, NK cells, interleukin (IL)-12, IL-1β, cortisol, ferritin, SARS-CoV-2 specific IgG and IgM antibodies, Na, Cl, creatinine, alkaline phosphatase, cholesterol, HbA1c and alpha 2 and beta 2 globulin fractions of the proteinogram.
Conclusions: Although most observed parameters returned to their normal reference intervals, significant correlations were still observed with disease severity, that could indicate either the pre-infection baseline state which affected disease outcome or minor remaining alterations in function of certain organs, pertaining their stress or damage during the acute phase of the disease.
Ključne besede: disease severity, laboratory parameters, resolution, COVID-19, SARS-CoV-2, laboratory diagnosis
Objavljeno v DiRROS: 07.11.2025; Ogledov: 357; Prenosov: 157
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