Lymphoproliferative diseases

BACKGROUND AND AIMS: X lymphoproliferative syndrome type 1 (XLP1) is a rare inborn error of immunity due to mutations of SH2D1A , encoding for slam-associated protein (SAP). The clinical phenotype includes severe mononucleosis, hemophagocytic lymphohistiocytosis (HLH), and B-cell lymphomas. METHODS: We report the case of a child affected with XLP1 who presented with an incomplete HLH, triggered by Epstein-Barr virus (EBV) and treated with rituximab, involving orbits and paranasal sinuses...

BACKGROUND: Although oncogenic RAS mutants are thought to exert mutagenic effects upon blood cells, it remains uncertain how a single oncogenic RAS impacts non-transformed multipotent hematopoietic stem or progenitor cells (HPCs). Such potential pre-malignant status may characterize HPCs in patients with RAS-associated autoimmune lymphoproliferative syndrome-like disease (RALD). This study sought to elucidate the biological and molecular alterations in human HPCs carrying monoallelic mutant KRAS (G13C) with no other oncogene mutations...

Patients with Epstein-Barr virus (EBV)-positive post-transplant lymphoproliferative disease (EBV+ PTLD) in whom initial treatment fails have few options and historically low median overall survival (OS) of 0.7 months following allogeneic hematopoietic cell transplant (HCT) and 4.1 months following solid organ transplant (SOT). Tabelecleucel is an off-the-shelf, allogeneic EBV-specific cytotoxic T-lymphocyte immunotherapy for EBV+ PTLD. Previous single-center experience showed responses in patients with EBV+ PTLD following HCT or SOT...

A 10-year-old neutered male Maltese dog was presented for an investigation of lymphocytosis. The dog was up-to-date on vaccinations and deworming. Physical examination did not reveal any significant abnormalities. A complete blood cell count (CBC) showed mild leukocytosis with moderate lymphocytosis, basophilia, and moderate neutropenia, but no significant left shift or toxic change. Serum biochemistry and urinalysis were unremarkable. All performed tests for infectious agents common in this geographical region were negative...

Epstein-Barr virus-positive mucocutaneous ulcer (EBV-MCU) is characterized by ulcers confined to the skin and mucus membranes. EBV-MCU is an EBV-positive lymphoproliferative disorder that occurs during the use of immunosuppressive drugs such as methotrexate. We herein report a case of EBV-MCU in the maxillary gingiva. A 73-year-old woman was referred to our department in March 2021. During the initial examination, bone exposure and ulceration were observed in the extraction socket of the maxillary bilateral central incisors...

Human herpesvirus 8 (HHV8)-associated diseases include Kaposi sarcoma (KS), multicentric Castleman disease (MCD), germinotropic lymphoproliferative disorder (GLPD), Kaposi sarcoma inflammatory cytokine syndrome (KICS), HHV8-positive diffuse large B-cell lymphoma (HHV8+ DLBCL), primary effusion lymphoma (PEL), and extra-cavitary PEL (ECPEL). We report the case of a human immunodeficiency virus (HIV)-negative male treated for cutaneous KS, who developed generalized lymphadenopathy, hepatosplenomegaly, pleural and abdominal effusions, renal insufficiency, and pancytopenia...

Large granular lymphocytic (LGL) leukemia is a lymphoproliferative disorder characterized by persistent clonal expansion of mature T- or natural killer cells in the blood via chronic antigenic stimulation. LGL leukemia is associated with specific immunophenotypic and molecular features, particularly STAT3 and STAT5 mutations and activation of the JAK-STAT3 , Fas/Fas-L and NF-κB signaling pathways. Disease-related deaths are mainly due to recurrent infections linked to severe neutropenia. The current treatment is based on immunosuppressive therapies, which frequently produce unsatisfactory long-term responses, and for this reason, personalized approaches and targeted therapies are needed...

Autoimmune haemolytic anaemia (AIHA) is an acquired heterogenous clinical entity with variable presentations like acute haemolysis or mild, chronic haemolysis compounded with acute exacerbation in winters or fatal uncompensated haemolysis. A step-wise approach to the diagnosis and characterisation of AIHA should be undertaken, firstly the diagnosis of haemolysis followed by the establishment of immune nature with the aid of direct agglutination tests (DAT). Simultaneously the other causes of immune haemolysis need to be excluded too...

Objectives: To determine the effect of glucose-6-phosphate-dehydrogenase (G6PD) deficiency on patients' complications and prognosis following allogeneic stem cell hematopoietic transplantation (allo-HSCT) . Methods: 7 patients with G6PD deficiency (study group) who underwent allo-HSCT at Peking University People's Hospital from March 2015 to January 2021 were selected as the study group, and thirty-five patients who underwent allo-HSCT during the same period but did not have G6PD deficiency were randomly selected as the control group in a 1∶5 ratio...

Posttransplant lymphoproliferative disease (PTLD) is a major therapeutic challenge that has been difficult to study using human cells because of a lack of suitable models for mechanistic characterization. Here, we show that ex vivo-differentiated B cells isolated from a subset of healthy donors can elicit pathologies similar to PTLD when transferred into immunodeficient mice. The primary driver of PTLD-like pathologies were IgM-producing plasmablasts with Epstein-Barr virus (EBV) genomes that expressed genes commonly associated with EBV latency...

BACKGROUND: Paediatric-onset immune-mediated inflammatory diseases (pIMID) show more aggressive phenotypes than when diagnosed in adults. However, data on mortality are often extrapolated from adult studies. AIM: To estimate the effect of pIMID on mortality. METHODS: In a population-based cohort study using the nationwide Danish healthcare registers, we included all patients diagnosed with pIMID in Denmark from 1980 to 2018. PIMID were defined as ICD codes indicative of autoimmune hepatitis, primary sclerosing cholangitis, Crohn's disease, ulcerative colitis, juvenile idiopathic arthritis, lupus erythematosus, or vasculitis registered before age 18 years...

Respiratory manifestations of chronic liver disease have a profound impact on patient clinical outcomes. Certain conditions within paediatric liver disease have an associated respiratory pathology. This overlap between liver and respiratory manifestations can result in complex challenges when managing patients and requires clinicians to be able to recognise when referral to specialists is required. While liver transplantation is at the centre of treatment, it opens up further potential for respiratory complications...

BACKGROUND: Lymphomatoid Papulosis (LyP) is a rare cutaneous T-cell lymphoproliferative disorder. Comprehensive data on LyP in the paediatric population is scarce. OBJECTIVES: To characterize epidemiological, clinical, histopathological, and prognostic features of paediatric LyP. METHODS: This was a retrospective, multicentre international cohort study including 87 cases of children and adolescents with LyP diagnosed between 1998 and 2022...

BACKGROUND: Lymphadenopathy is a common finding in clinical practice. The cause of enlarged nodes on clinical examination alone is challenging and there may be multiple reasons for this enlargement. It may become enlarged due to stimulation by infectious agents or the involvement of metastasis or malignant diseases, such as lymphoma. OBJECTIVE: The aim of the study was to investigate the diagnostic role of fine needle aspiration cytology of lymph nodes in metastatic cancer and lymphoma...

BACKGROUND: In oncohematology, both the development of the disease and the side effects of antineoplastic treatment often take a toll on patients' physical and nutritional well-being. In this era of digital transformation, we launched a pioneering project for oncohematologic patients to promote adherence to a healthy lifestyle and improve their physical and nutritional well-being. We aim to achieve this goal by involving doctors and nutritionists through the Nootric app. OBJECTIVE: This study aims to assess the impact of the use of eHealth tools to facilitate nutrition and well-being in oncohematologic patients...

UNLABELLED: Chronic lymphocytic leukaemia (CLL) is a lymphoproliferative disorder characterised by an accumulation of monoclonal B lymphocytes, with an increased risk of secondary cancers. The coexistence of CLL and chronic myeloid leukaemia (CML) is a rare phenomenon, with three main types being classified: CML preceding CLL, CLL preceding CML and simultaneous occurrence. The coexistence of these chronic leukaemias poses a complex clinical challenge, with the underlying mechanisms of their association remaining enigmatic...

Wild turkeys (Meleagris gallopavo) are an important game species throughout the geographic range. Populations throughout multiple regions of the US have been declining, including in Kentucky, US, raising concerns among managers and resource users. To better understand the overall population health, we performed postmortem examinations and targeted pathogen, mineral, and toxicant testing on 36 adult male, apparently healthy, wild turkeys that were hunter harvested in western Kentucky during April 2018. We found that birds were in fair to good nutritional condition with no significant gross or microscopic lesions...

METHODS: This retrospective analysis aimed to assess whether a 12-hour mean temperature (measured around either diagnosis of HLH or peak ferritin value) has value as a quick and simple diagnostic test for HLH in people with lymphoproliferative disease (LPD). Hospital records from 2018 to 2022 were retrospectively screened for patients with LPD and peak ferritin during admission to hospital >3000ng/mL. Patients were grouped as either HLH or non-HLH after consensus discussion at a multi-disciplinary meeting with access to full, detailed patient records and H-scores...

Lymphoid malignancies are a heterogeneous group of hematological disorders characterized by a diverse range of morphological, immunophenotypic and clinical features. Next generation sequencing (NGS) is increasingly being applied to delineate the complex nature of these malignancies and identify high value biomarkers with diagnostic, prognostic, or therapeutic benefit. However, there are various challenges in using NGS routinely to characterize lymphoid malignancies including pre-analytic issues such as sequencing DNA from formalin-fixed paraffin-embedded tissue and optimizing the bioinformatic workflow for accurate variant calling and filtering...

The classification of primary cutaneous lymphomas and lymphoproliferative disorders (LPD) is continuously evolving by integrating novel clinical, pathological and molecular data. Recently two new classifications for haematological malignancies including entities of cutaneous lymphomas were proposed: the 5th edition of the WHO classification of haematolymphoid tumours and the International Consensus Classification (ICC) of mature lymphoid neoplasms. This article provides an overview of the changes introduced in these two classifications compared to the previous WHO classification...