[Relapse-related candidate genes and their clinicopathological connections of diffuse large B cell lymphoma]Gong, Yang, Sun
et alZhonghua Bing Li Xue Za Zhi (2025) 54 (4), 348-353
Abstract: Objective: To explore the relapse-related genes and their clinicopathological connections of diffuse large B cell lymphoma (DLBCL). Methods: Targeted panel sequencing was conducted on 32 eligible DLBCL samples; the patients were diagnosed, treated, and went into complete remission at the First Affiliated Hospital of Nanjing Medical University from January 2015 to December 2019, including 14 cases with recurrence (relapsed group) and 18 cases with long-term complete remission of over five years (remission group). Clinical and pathological data were further reviewed. Fisher's exact test was employed to compare the differences in clinicopathological characteristics and mutation patterns between the two groups. Results: Among the 32 patients, there were 18 males and 14 females, with a male to female ratio of 1.3∶1.0 and a median age of 53 (45.5, 67.0) years. In the relapsed group, PIM1 (11/14), KMT2D (7/14), PRDM1 (6/14), MYD88 (6/14), DTX1 (6/14) emerged as the most frequently mutated genes. In the remission group, while recurrent PIM1, KMT2D and MYD88 mutations were also observed, the TP53 gene exhibited the highest mutation frequency (6/18). Compared to the remission group, relapsed group showed elevated mutation frequencies of PIM1 (P=0.013) and FAT4 (P=0.010), alongside a reduced incidence of TP53 mutations. In all 32 patients, DLBCL with CD79B, CCND3, DTX1, KMT2D and PRDM1 mutations demonstrated a propensity towards advanced clinicopathologic stage. Conclusions: Relapsed DLBCL has distinctive clinicopathological and genetic features. PIM1 and FAT4 may be served as potential biomarkers for screening relapsed DLBCL-NOS and as targets for novel therapeutic strategies.
Exploring Genetic Factors Associated with Moniezia spp. Tapeworm Resistance in Central Anatolian Merino Sheep via GWAS ApproachArzik, Kizilaslan, Behrem
et alAnimals (Basel) (2025) 15 (6)
Abstract: Gastrointestinal parasite (GIP) infections pose significant challenges in pasture-based sheep farming, leading to economic losses and welfare concerns. This study aimed to uncover the genetic basis of resistance to Moniezia spp. infections in Central Anatolian Merino (CAM) sheep. Genome-Wide Association Analysis (GWAS) was conducted between Moniezia spp. egg burden and genomic data from 226 CAM lambs. Thirteen significant Single-Nucleotide Polymorphisms (SNPs) were identified, with five surpassing the genome-wide threshold and eight exceeding the chromosome-wide threshold. Functional annotation revealed associations with genes involved in immune function, notably CD79A and MAP3K7. CD79A, integral to B-cell activation and antibody production, plays a key role in the immune response against parasitic infections. Its interaction with helminth-derived proteins modulates B-cell function, highlighting its potential as a therapeutic target. MAP3K7, a central regulator of immune signaling pathways, modulates host responses to helminth infections by influencing NF-κB activity. Additionally, it regulates macrophage function in bacterial infections, showcasing its versatility in mediating immune responses against diverse pathogens. From a practical perspective, the findings of the current research underscore the potential of integrating genomic information into breeding programs to bolster disease resilience in livestock populations for sustainable production purposes. However, further research is needed to elucidate the functional significance of identified SNPs and associated genes. This study underscores the potential of genomic approaches in combating parasitic diseases and promoting sustainable agriculture in sheep production systems.
Pulmonary extranodal NK/T-cell lymphoma: A clinicopathological analysis of five patientsLi, Zhang, Sun
et alCytojournal (2025) 22, 14
Abstract: Our goal was to investigate the clinicopathological features of extranodal natural killer (NK)/T-cell lymphoma (ENKTL).A total of five newly identified (5 biopsy samples) untreated cases of pulmonary ENKTL were collected between January 2016 and January 2024. The clinical characteristic pathology features on hematoxylin-eosin-staining sections, immunohistochemistry stating, treatment responses, and prognoses were retrospectively analyzed.Among the five patients, four were male and one was female, and their ages varied between 48 and 63 years. All five patients were initially diagnosed with stage IV disease. Histological examination revealed either scattered or localized clusters of highly pleomorphic tumor lymphocytes associated with necrosis and a significant presence of inflammatory cells. Most tumor cells expressed cluster of differentiation (CD)3, T-cell intracellular antigen-1, and granzyme B, whereas there was an absence of CD20, CD79a, or CD5 expression. The expression of CD56 was detected in four out of the five patients. Only two patients were tested for programmed cell death ligand 1, with one out of two patients exhibiting positivity (Tumor Proportion Score (TPS) 80%). The Ki-67 proliferation index varied from 40% to 90%. All patients tested positive for Epstein- Barr virus-encoded ribonucleic acid (RNA) (EBER) through fluorescence in situ hybridization (FISH). Five of the patients died during follow-up. Four of these patients underwent standard chemotherapy, with survival durations ranging from 3 to 24 months. One patient received only supportive treatment, resulting in a survival time of 1 month.Pulmonary ENKTL is an uncommon, aggressive cancer associated with a bleak prognosis. The likelihood of misdiagnosis is high because of the presence of necrotic lesions and various cell types. Accurate diagnosis relies heavily on immunohistochemistry and EBER FISH. The aim of our study was to facilitate improved diagnosis of pulmonary ENKTL and to identify treatment strategies for affected individuals.© 2025 The Author(s). Published by Scientific Scholar.
Development of a clinically relevant rat model of chronic thromboembolic pulmonary hypertension by combining splenectomy with pulmonary thromboembolismZhang, Lu, Guo
et alThromb Res (2025) 249, 109310
Abstract: Chronic thromboembolic pulmonary hypertension (CTEPH) is a severe condition resulting from unresolved thrombi in the pulmonary arteries, leading to increased pulmonary vascular resistance and right heart failure. Currently, the scarcity of clinically relevant animal models of CTEPH significantly hampers mechanistic studies and drug development.This study aimed to establish a rat model of CTEPH by combining splenectomy with thrombus injection, simulating key clinical risk factors associated with the disease. Rats underwent splenectomy and subsequent intravenous administration of thrombi, followed by hemodynamic and histological measurements as well as lung tissue RNA sequencing.Splenectomized rats exhibited significant increases in platelets and delayed thrombolysis. Five weeks after splenectomy and thrombus injection, the rats exhibited thrombus retention in large pulmonary arteries, increased right ventricular systolic pressure, and pulmonary vascular remodeling, which were characteristic of CTEPH. Transcriptomic analysis revealed increased expression of inflammatory cytokines Ccl2 and Ccl3, as well as the B cell marker Cd79a, which was confirmed as an increase in CD79A+ B cells in the lung tissue.Overall, this novel approach of combining splenectomy with thrombus injection provides a clinically relevant model for studying CTEPH pathophysiology and evaluating potential therapeutic interventions.Copyright © 2025 Elsevier Ltd. All rights reserved.
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