Novel BRAF::EPB41L2 gene fusion in posterior fossa pilocytic astrocytoma. Brief communication

Ryzhova, Marina; Шайхаев, Е. Г.; Snigireva, G P; Gorelyshev, Sergey; Zheludkova, Olga; Golanov, Andrey

doi:10.17116/patol20228405140

Cited by 1 publication

(1 citation statement)

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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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