A novel colony‐stimulating factor 1 (CSF1) translocation  involving human endogenous retroviral element in a tenosynovial giant cell tumor

Lipplaa, Astrid; Meijer, Debora M; Sande, Michiel A.J. van de; Gelderblom, Hans; Bovée, Judith V.M.G.; Mei, Hailiang; Szuhai, Károly

doi:10.1002/gcc.23116

Cited by 3 publications

(1 citation statement)

References 64 publications

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“…The vast majority of fusions identified in MPS studies are non-recurring, and, as such, have been identified as stochastic events [19]. While large-scale MPS efforts have been enormously productive in identifying fusion break points, novel oncofusions and their acting mechanisms are still being identified from MPS data at an accelerating pace [85][86][87][88][105][106][107][108][109][110][111][112][113][114][115][116][117][118][119][120], and while multiple fusion databases are available [64,121,122], a centralized and standardized hub akin to, for example, IntAct [123] for interaction data or UniProt [124] for protein information has yet to emerge.…”

Section: Protein-level Analysis Of Oncofusionsmentioning

confidence: 99%

Decoding Oncofusions: Unveiling Mechanisms, Clinical Impact, and Prospects for Personalized Cancer Therapies

Salokas

Dashi

Varjosalo

2023

Cancers

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Cancer-associated gene fusions, also known as oncofusions, have emerged as influential drivers of oncogenesis across a diverse range of cancer types. These genetic events occur via chromosomal translocations, deletions, and inversions, leading to the fusion of previously separate genes. Due to the drastic nature of these mutations, they often result in profound alterations of cellular behavior. The identification of oncofusions has revolutionized cancer research, with advancements in sequencing technologies facilitating the discovery of novel fusion events at an accelerated pace. Oncofusions exert their effects through the manipulation of critical cellular signaling pathways that regulate processes such as proliferation, differentiation, and survival. Extensive investigations have been conducted to understand the roles of oncofusions in solid tumors, leukemias, and lymphomas. Large-scale initiatives, including the Cancer Genome Atlas, have played a pivotal role in unraveling the landscape of oncofusions by characterizing a vast number of cancer samples across different tumor types. While validating the functional relevance of oncofusions remains a challenge, even non-driver mutations can hold significance in cancer treatment. Oncofusions have demonstrated potential value in the context of immunotherapy through the production of neoantigens. Their clinical importance has been observed in both treatment and diagnostic settings, with specific fusion events serving as therapeutic targets or diagnostic markers. However, despite the progress made, there is still considerable untapped potential within the field of oncofusions. Further research and validation efforts are necessary to understand their effects on a functional basis and to exploit the new targeted treatment avenues offered by oncofusions. Through further functional and clinical studies, oncofusions will enable the advancement of precision medicine and the drive towards more effective and specific treatments for cancer patients.

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Section: Protein-level Analysis Of Oncofusionsmentioning

confidence: 99%

Decoding Oncofusions: Unveiling Mechanisms, Clinical Impact, and Prospects for Personalized Cancer Therapies

Salokas

Dashi

Varjosalo

2023

Cancers

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Chlorin e6 and BLZ945 Based Self‐Assembly for Photodynamic Immunotherapy Through Immunogenic Tumor Induction and Tumor‐Associated Macrophage Depletion

Huang,

Zhao,

Rao

et al. 2024

Adv Healthcare Materials

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Immunotherapeutic effect is restricted by the non‐immunogenic tumor phenotype and immunosuppression behaviors of tumor associated macrophages (TAMs). In this work, a drug self‐assembly (designated as CeBLZ) is fabricated based on chlorin e6 (Ce6) and BLZ945 to activate photodynamic immunotherapy through tumor immunogenic induction and tumor associated macrophage depletion. It is found that Ce6 tends to assemble with BLZ945 without any drug excipients, which can enhance the cellular uptake, tumor penetration and blood circulation behaviors. The robust photodynamic therapy effect of CeBLZ efficiently suppresses the primary tumor growth and also triggers immunogenic cell death to reverse the non‐immunogenic tumor phenotype. Moreover, CeBLZ can deplete TAMs in tumor tissues to reverse the immunosuppression microenvironment, activating abscopal effect for distant tumor inhibition. In vitro and in vivo results confirm the superior anti‐tumor effect of CeBLZ with negligible side effect, which might promote the development of sophisticated drug combinations for systematic tumor management.This article is protected by copyright. All rights reserved

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A novel colony‐stimulating factor 1 (CSF1) translocation involving human endogenous retroviral element in a tenosynovial giant cell tumor

Lipplaa

Meijer

Sande

et al. 2023

Genes Chromosomes & Cancer

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Tenosynovial giant cell tumors (TSGCTs) are rare tumors arising in tendons or the synoviae of joints and bursae. The localized type is benign while the diffuse type shows expansive growth leading to greater morbidity and is therefore considered locally aggressive. Typical recurrent chromosomal aberrations are found in the majority of TSCGT and the CSF1 gene is frequently involved. In this article, we describe a newly identified gene fusion mediated by an inversion in a case of diffuse TSGCT.Multicolor-fluorescence in situ hybridization (FISH) molecular karyotyping identified a pericentric inversion of chromosome 1 in 7 out of 17 analyzed cells 46,XX,inv(1) (p13.3q24.3) [7]/46,XX [10], and with interphase FISH the involvement the CSF1 locus was detected. After performing transcriptome sequencing analysis for fusion detection, only one out of five fusion gene algorithms detected a fusion involving the CSF1 gene product. The resulting chimera fuses a sequence from a human endogenous retrovirus (HERV) gene to CSF1 Exon 6 on chromosome 1, abrogating the regulatory element of the 3 0 untranslated region of the CSF1 gene. This new translocation involving Exon 6 of the CSF1 gene fused to 1q24.1, supports the hypothesis that a mutated CSF1 protein is likely to play a vital role in the pathogenesis of TSGCT. The role of the HERV partner identified as a translocation partner, however, remains unclear. Our data add to the complexity of involved translocation partners in TSGCT and point to the potential difficulty of identifying fusion partners in tumor diagnostics using transcriptome sequencing when HERV or other repeat elements are involved.

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A novel colony‐stimulating factor 1 (CSF1) translocation involving human endogenous retroviral element in a tenosynovial giant cell tumor

Cited by 3 publications

References 64 publications

Decoding Oncofusions: Unveiling Mechanisms, Clinical Impact, and Prospects for Personalized Cancer Therapies

Decoding Oncofusions: Unveiling Mechanisms, Clinical Impact, and Prospects for Personalized Cancer Therapies

Chlorin e6 and BLZ945 Based Self‐Assembly for Photodynamic Immunotherapy Through Immunogenic Tumor Induction and Tumor‐Associated Macrophage Depletion

A novel colony‐stimulating factor 1 (CSF1) translocation involving human endogenous retroviral element in a tenosynovial giant cell tumor

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