The evolving role of next generation sequencing in myelodysplastic syndromes

Spaulding, Travis; Stockton, Shannon; Savona, Michael R.

doi:10.1111/bjh.16212

Cited by 15 publications

(21 citation statements)

References 142 publications

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“…Disease evolution is driven by positive selection of driver mutations. So far, more than 30 driver genes have been associated with the pathogenesis of leukemia [1,2]. Gene functional analysis has clustered these genes into pathways including DNA methylation, chromatin remodeling, RNA-splicing, cohesion complex, RAS family signaling, gene transcription, and DNA repair.…”

Section: Genetics Of Myeloid Malignanciesmentioning

confidence: 99%

Mutations in Splicing Factor Genes in Myeloid Malignancies: Significance and Impact on Clinical Features

Visconte

Nakashima

Rogers

2019

Cancers

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Components of the pre-messenger RNA splicing machinery are frequently mutated in myeloid malignancies. Mutations in LUC7L2, PRPF8, SF3B1, SRSF2, U2AF1, and ZRSR2 genes occur at various frequencies ranging between 40% and 85% in different subtypes of myelodysplastic syndrome (MDS) and 5% and 10% of acute myeloid leukemia (AML) and myeloproliferative neoplasms (MPNs). In some instances, splicing factor (SF) mutations have provided diagnostic utility and information on clinical outcomes as exemplified by SF3B1 mutations associated with increased ring sideroblasts (RS) in MDS-RS or MDS/MPN-RS with thrombocytosis. SF3B1 mutations are associated with better survival outcomes, while SRSF2 mutations are associated with a shorter survival time and increased AML progression, and U2AF1 mutations with a lower remission rate and shorter survival time. Beside the presence of mutations, transcriptomics technologies have shown that one third of genes in AML patients are differentially expressed, leading to altered transcript stability, interruption of protein function, and improper translation compared to those of healthy individuals. The detection of SF mutations demonstrates the importance of splicing abnormalities in the hematopoiesis of MDS and AML patients given the fact that abnormal splicing regulates the function of several transcriptional factors (PU.1, RUNX1, etc.) crucial in hematopoietic function. This review provides a summary of the significance of the most frequently mutated SF genes in myeloid malignancies and an update on novel targeted therapies in experimental and clinical trial stages.

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Section: Genetics Of Myeloid Malignanciesmentioning

confidence: 99%

Mutations in Splicing Factor Genes in Myeloid Malignancies: Significance and Impact on Clinical Features

Visconte

Nakashima

Rogers

2019

Cancers

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“…The data provided by NGS have proven valuable and reliable for both research and in the clinic to improve the diagnosis, prognosis, and treatment of several diseases [ 23 , 24 , 25 , 26 ], and are widely used in the oncology field [ 27 , 28 ]. In lung cancer, this technique has been used for early diagnosis biomarker identification, targeted treatment decisions, and identification of causative mutations [ 29 , 30 , 31 , 32 , 33 , 34 ].…”

Section: Next Generation Sequencingmentioning

confidence: 99%

Next Generation Sequencing Technology in Lung Cancer Diagnosis

Căinap

Bălăcescu

Căinap

et al. 2021

Biology

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Lung cancer is still one of the most commonly diagnosed cancers, and one of the deadliest. The high death rate is mainly due to the late stage of diagnosis and low response rate to therapy. Previous and ongoing research studies have tried to discover new reliable and useful cbiomarkers for the diagnosis and prognosis of lung cancer. Next generation sequencing has become an essential tool in cancer diagnosis, prognosis, and evaluation of the treatment response. This article aims to review the leading research and clinical applications in lung cancer diagnosis using next generation sequencing. In this scope, we identified the most relevant articles that present the successful use of next generation sequencing in identifying biomarkers for early diagnosis correlated to lung cancer diagnosis and treatment. This technique can be used to evaluate a high number of biomarkers in a short period of time and from small biological samples, which makes NGS the preferred technique to develop clinical tests for personalized medicine using liquid biopsy, the new trend in oncology.

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“…The jump from investigational NGS to the clinical field in myelodysplastic syndromes (MDS) and other neoplasia is helping us to better understand and stratify patient risk, potentially enabling the use of targeted therapies in clinical trials, when available. The current and potential use of NGS in the field of MDS was recently reviewed by Spaulding et al 1 . and will be further expanded in the next few years with new applications.…”

Section: Figurementioning

confidence: 99%