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Cesarman, E.

Publications and source records attributed to Cesarman, E..

8 recordsLinked to original sources

LINE-1 transposable element is expressed in Kaposi's sarcoma and regulates gene expression in KSHV-infected cells

Long interspersed nuclear element-1 (LINE-1/L1) retrotransposons are expressed in various human cancers. Kaposis sarcoma-associated herpesvirus (KSHV) is the etiologic agent of Kaposis Sarcoma (KS) and Primary Effusion Lymphoma (PEL), which are characterized by global transcriptional reprogramming. Previously, we have found upregulation of L1 in PEL. Here, we show that knockdown of L1 in PEL cells significantly impaired their proliferation and induced broad transcriptional changes encompassing DNA replication, mitotic progression, and genome maintenance pathways. Analysis of KSHV-infected mouse and human mesenchymal stem cell models revealed that the KS-mimicking microenvironment robustly upregulates L1 expression, with sustained expression observed in KSHV-induced tumor cells even after the loss of the viral episome. Reanalysis of RNA-seq data from KS patient biopsies further showed elevated L1 expression in both endemic and AIDS-associated epidemic KS, with partial reduction following antiretroviral therapy. L1 ORF1p protein expression was confirmed by immunohistochemistry in KS tissues. Reanalysis of the enzymes that can modulate DNA methylation, a process that regulates L1 expression, revealed upregulation of DNMT3A and TET2 in both mouse KSHV tumor models and human KS. Altogether, our findings establish the L1 activation as a hallmark of KSHV-driven oncogenesis.

microbiology↗

EBV Triggers a Distinct Antiviral Response in HMC3 Cells

Epstein-Barr Virus (EBV) is a gamma herpesvirus found in >90% of the world population that is associated with primary central nervous system (CNS) malignancy development in immunocompromised people. To provide mechanistic links between EBV infection and CNS malignancies, we investigated the capacity for EBV particles to suppress anti-tumor immunity in human microglia through a cell line model. With this approach, we exposed HMC3 cells to EBV-derived glycoprotein 350 (GP350), UV-inactivated EBV (UVi-EBV), and lipoteichoic acid (LTA) for up to 72 hours. Acute impacts of EBV particles and glycoprotein on microglial physiology were characterized at various timepoints in this model through measures of cytokine production, mRNA expression, and endocytosis. We found that UVi-EBV exposure significantly suppressed microglial production of anti-tumor interferons (IFNs) and upregulated microglial expression of the proto-oncogenic immediate early genes FOS and EGR1. Notably, there was no impairment of microglial endocytic functions following UVi-EBV stimulation, suggesting a compartmentalized suppression on IFN signaling. Overall, these findings reveal that the EBV-mediated inhibition of microglial IFN production may contribute to CNS malignancies and emphasize the urgency of innovating therapeutic strategies which target EBV to restore microglial anti-tumoral immunity. ImportanceEvidence linking EBV infection with primary CNS lymphomas and leiomyosarcomas are abundant, yet it is unclear whether EBV infection influences the CNS microenvironment and whether these effects then promote tumorigenesis. This study demonstrates evidence for EBV particle exposure to influence microglial immune phenotypes by suppressing IFN production, providing a putative mechanism for EBV virion expression in the CNS to suppress anti-tumoral immunity against EBV+ cancers. These results are particularly relevant to the etiology of EBV+ primary CNS cancers in immunocompromised people, where microglial play a heightened role in protecting the CNS in the absence of adaptive immunity.

microbiology↗

HIV-associated non-Hodgkin lymphoma tumor-microenvironment axes differ by EBV status across cellular origins

Non-Hodgkin Lymphoma (NHL) is the main cancer-related mortality for people living with HIV (PLWH). NHL genetic and molecular classifications have been intensely studied and correlated with clinical outcomes, but critical unanswered questions relevant to malignancy persist. For example, tumors positive for Epstein-Barr virus (EBV) are aggressive and account for 30-50% of HIV-associated NHLs, yet insights on the nature of EBV in NHL pathogenesis or potential therapeutic vulnerabilities have been limited. Here, we examined HIV-associated NHLs stratified by histopathologic classification, cell of origin (COO), molecular subtype, and EBV status using genome-wide spatial transcriptomic analyses. Tumor tissues in EBV+ HIV-NHLs displayed enriched expression of mitochondrial respiration and purine metabolism signatures versus EBV- tumors. Immune infiltration of EBV+ tumors was limited, and immune and stromal regions of EBV+ HIV-NHLs displayed upregulation of the gene for the iron exporter ferroportin (SLC40A1), indicating immunosuppressive macrophage polarization. An immunosuppressive SPP1-CD44 axis and oncogenic GAS6-AXL interaction between tumor and stroma were specifically predicted for EBV+ HIV-NHLs with plasmablastic features. Tumor microenvironment (TME) similarities to secondary lymphoid tissues such as inverse CXCL12-CXCL13 gradients and evidence of matching between tumor B cell phenotypes and reticular cell signatures were also observed. Finally, we developed a simple yet flexible approach to quantify expression gradients and cell proximity to annotated regions. Thus, this study highlights potential avenues for NHL therapy tailored by EBV status and provides a unique resource to examine tumor-TME interactions in the HIV-immunocompromised context. Key PointsO_LISpatial transcriptomic landscapes resolve cell-of-origin- and EBV-associated HIV-NHL heterogeneity including immunosuppressive myeloid responses to EBV+ tumors C_LIO_LISpatial gradients including CXCL12 and CXCL13 indicate that tumor-stromal interactions mimic lymphoid tissue organization and depend on B cell development stage C_LIO_LIDevelopment of a direction-agnostic method to calculate spatial expression gradients relative to annotated tissue and cell types of interest C_LIO_LIPredicted pharmacologic vulnerabilities in clinical samples are replicated in vitro and confirmed by small molecule screening C_LI

cancer biology↗

Transcriptome sequencing of Hodgkin lymphoma Hodgkin and Reed-Stenberg cells reveals escape from NK cell recognition and an unfolded protein response

The mutational profile of classic Hodgkin lymphoma (cHL) overlaps with that of related B cell lymphomas, including primary mediastinal B cell lymphoma (PMBL), and yet these are different histologically and clinically. To discover the molecular features that distinguish cHL, we deployed flow cytometric cell sorting and low-input RNA sequencing to generate full transcriptome data from viable, isolated Hodgkin and Red-Sternberg (HRS) cells from eighteen primary tumors, alongside matched intra-tumoral non-neoplastic B cells and four cell lines. Comparison of HRS cells to normal cellular subsets revealed evidence of abortive plasma cell differentiation, with an unfolded protein response signature, shared with plasma cell neoplasms, but not other B-cell lymphoma types. Comparison of cHL to PMBL revealed similarities but also key differences in B cell differentiation programs accompanied by upregulation of genes involved in microtubule cytoskeleton organization in cHL, which may be related to the unique multinucleated nature of HRS cells. In HRS cells, we also observed a downregulation of SLAM family receptors, which are crucial for NK cell activation, providing a potential mechanism for immune evasion from NK-mediated killing. STATEMENT OF SIGNIFICANCEThis study defines a unique transcriptional program in classic Hodgkin Lymphoma (cHL) marked by oncogenic signaling, chromatin integrity, DNA repair, and immune escape including loss of NK-activating receptors. HRS cells resemble plasma cells and have an unfolded protein response signature, which distinguishes them from diffuse large and primary mediastinal B cell lymphomas.

cancer biology↗

HIV Infection and Opioid Treatment Enable the Engraftment of Kaposi Sarcoma-like Tumors into Immunocompetent Mice

The Kaposi Sarcoma herpesvirus (KSHV) causes Kaposi sarcoma (KS), primary effusion lymphoma, a lymphoproliferative disease (KSHV-multicentric Castlemans disease), and a cytokine inflammatory syndrome (KICS). These diseases occur more frequently, though not exclusively, among people living with HIV or other types of immune dysregulation. While limited KS can regress with immune reconstitution, such as through antiretroviral therapy (ART) in people living with HIV, there are currently no curative treatments for advanced KS. Preventive or therapeutic vaccines targeting KSHV could have a significant clinical impact; however, the development and testing of such strategies have been limited by the lack of preclinical models that faithfully recapitulate KS, including the presence of infected spindle cells and a relevant immune microenvironment. HIV/AIDS is an important cofactor for KS, and globally, the majority of individuals with KS are HIV-infected. Current evidence indicates that HIV-1 may enable KS progression through immunosuppression and promote pathogenesis by inducing inflammatory cytokines and producing secreted regulatory proteins like Tat and Nef. The design and testing of new therapeutic approaches based on pathogenesis are hampered by the lack of models that replicate KSHV oncogenesis in the context of HIV/AIDS. In the present study, we demonstrate that KSHV-infected cells can form tumors in an immunocompetent mouse model, but only when these mice are pretreated with EcoHIV and morphine, both of which have immunomodulatory and pro-inflammatory effects. These tumors exhibit gene expression profiles and immune microenvironments that closely resemble those observed in human KS lesions. This novel KSHV tumor model in immunocompetent mice provides a valuable platform to test immunotherapeutic strategies for KS, including immunomodulatory agents, targeted antibody therapies, checkpoint inhibitors, and vaccines. Author SummaryKaposi sarcoma (KS) is a cancer caused by the Kaposis sarcoma-associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV-8). A vaccine against this virus could prevent or cure this malignancy. However, there are no good animal models with an immune system to test new immunization approaches. The possibility of having KSHV-driven tumors develop in immunocompetent mice due to EcoHIV infection presents a unique opportunity to create an AIDS-KS mouse model suitable for testing immune-based therapies and KSHV vaccines in a scenario that replicates important aspects of AIDS-KS. These first-in-kind murine models incorporating a biologically relevant mouse HIV infection tool make our models unique and original, with the potential to provide novel mechanistic and pathobiological insights.

microbiology↗

Germinal Center Cytokines Driven Epigenetic Control of Epstein-Barr Virus Latency Gene Expression

Epstein-Barr virus (EBV) persistently infects 95% of adults worldwide and is associated with multiple human lymphomas that express characteristic EBV latency programs used by the virus to navigate the B-cell compartment. Upon primary infection, the EBV latency III program, comprised of six Epstein-Barr Nuclear Antigens (EBNA) and two Latent Membrane Protein (LMP) antigens, drives infected B-cells into germinal center (GC). By incompletely understood mechanisms, GC microenvironmental cues trigger the EBV genome to switch to the latency II program, comprised of EBNA1, LMP1 and LMP2A and observed in GC-derived Hodgkin lymphoma. To gain insights into pathways and epigenetic mechanisms that control EBV latency reprogramming as EBV-infected B-cells encounter microenvironmental cues, we characterized GC cytokine effects on EBV latency protein expression and on the EBV epigenome. We confirmed and extended prior studies highlighting GC cytokine effects in support of the latency II transition. The T-follicular helper cytokine interleukin 21 (IL-21), which is a major regulator of GC responses, and to a lesser extent IL-4 and IL-10, hyper-induced LMP1 expression, while repressing EBNA expression. However, follicular dendritic cell cytokines including IL-15 and IL-27 downmodulate EBNA but not LMP1 expression. CRISPR editing highlighted that STAT3 and STAT5 were necessary for cytokine mediated EBNA silencing via epigenetic effects at the EBV genomic C promoter. By contrast, STAT3 was instead necessary for LMP1 promoter epigenetic remodeling, including gain of activating histone chromatin marks and loss of repressive polycomb repressive complex silencing marks. Thus, EBV has evolved to coopt STAT signaling to oppositely regulate the epigenetic status of key viral genomic promoters in response to GC cytokine cues. Author SummaryA longstanding question has remained how Epstein-Barr virus (EBV) epigenetically switches between latency programs as it navigates the B-cell compartment. EBV uses its latency III program to stimulate newly infected B cell growth and then trafficking into secondary lymphoid tissue germinal centers (GC). In latency III, the viral C promoter stimulates expression of six Epstein-Barr nuclear antigens (EBNA) that in turn induce two latent membrane proteins (LMP). However, knowledge has remained incomplete about how GC microenvironmental cues trigger switching to latency II, where only one EBNA and two LMP are expressed, a program observed in Hodgkin lymphoma. Building on prior evidence that GC cytokines are a major cue, we systematically tested effects of cytokines secreted by GC-resident T follicular helper and follicular dendritic cells on EBV latency gene expression and on epigenetic remodeling of their promoters. This highlighted that a range of GC cytokines repress latency III EBNA, while only several support LMP1 expression, major events in the transition between the latency III and II programs. We identified key downstream roles of JAK/STAT signaling in relaying cytokine signals to the EBV epigenome, including obligatory STAT3 and 5 roles in rewiring of C and LMP promoter histone epigenetic marks.

microbiology↗

Locus specific human endogenous retroviruses reveal new lymphoma subtypes

The heterogeneity of cancers are driven by diverse mechanisms underlying oncogenesis such as differential cell-of-origin (COO) progenitors, mutagenesis, and viral infections. Classification of B-cell lymphomas have been defined by considering these characteristics. However, the expression and contribution of transposable elements (TEs) to B cell lymphoma oncogenesis or classification have been overlooked. We hypothesized that incorporating TE signatures would increase the resolution of B-cell identity during healthy and malignant conditions. Here, we present the first comprehensive, locus-specific characterization of TE expression in benign germinal center (GC) B-cells, diffuse large B-cell lymphoma (DLBCL), Epstein-Barr virus (EBV)-positive and EBV-negative Burkitt lymphoma (BL), and follicular lymphoma (FL). Our findings demonstrate unique human endogenous retrovirus (HERV) signatures in the GC and lymphoma subtypes whose activity can be used in combination with gene expression to define B-cell lineage in lymphoid malignancies, highlighting the potential of retrotranscriptomic analyses as a tool in lymphoma classification, diagnosis, and the identification of novel treatment groups.

cancer biology↗

Molecular evolution of classic Hodgkin lymphoma revealed through whole genome sequencing of Hodgkin and Reed Sternberg cells

The rarity of malignant Hodgkin and Reed Sternberg (HRS) cells within a classic Hodgkin lymphoma (cHL) biopsy limits the ability to study the genomics of cHL. To circumvent this, our group has previously optimized fluorescence-activated cell sorting to purify HRS cells. Here we leveraged this method to report the first whole genome sequencing landscape of HRS cells and reconstruct the chronology and likely etiology of pathogenic events prior to the clinical diagnosis of cHL. We identified alterations in driver genes not previously described in cHL, a high activity of the APOBEC mutational signature, and the presence complex structural variants including chromothripsis. We found that the high ploidy observed in cHL is often acquired through multiple, independent large chromosomal gain events including whole genome duplication. The first of these likely occurs several years prior to the diagnosis of cHL, and the last gains typically occur very close to the time of diagnosis. Evolutionary timing analyses revealed that driver mutations in B2M, BCL7A, GNA13, and PTPN1, and the onset of AID driven mutagenesis usually preceded large chromosomal gains. The study provides the first temporal reconstruction of cHL pathogenesis and suggests a relatively long time course between the first pathogenic event and the clinical diagnosis.

cancer biology↗