Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas
| العنوان: | Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas |
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| المؤلفون: | Yusuke Okuno, Shinsuke Kataoka, Asahito Hama, Nozomu Kawashima, Kyoko Yamashita, Daiei Kojima, Eri Nishikawa, Kenji Kasai, Rieko Taniguchi, Masato Nakaguro, Atsushi Narita, Motoharu Hamada, Atsuko Nakazawa, Daisuke Ichikawa, Hajime Okita, Kyogo Suzuki, Seiji Mizuno, Seiji Kojima, Norihiro Murakami, Nobuhiro Nishio, Hideki Muramatsu, Yoshiyuki Takahashi, Yoshie Shimoyama |
| المصدر: | NPJ Genomic Medicine npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021) |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Pathology, medicine.medical_specialty, QH426-470, Genetic analysis, Article, Paediatric cancer, Transcriptome, Fusion gene, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Medical diagnosis, Molecular Biology, Pathological, Genetics (clinical), business.industry, RNA sequencing, Pediatric cancer, 030104 developmental biology, 030220 oncology & carcinogenesis, Medicine, Immunohistochemistry, business, Unsupervised clustering |
| الوصف: | Pediatric solid tumors are a heterogeneous group of neoplasms with over 100 subtypes. Clinical and histopathological diagnosis remains challenging due to the overlapping morphological and immunohistochemical findings and the presence of atypical cases. To evaluate the potential utility of including RNA-sequencing (RNA-seq) in the diagnostic process, we performed RNA-seq in 47 patients with suspected pediatric sarcomas. Histopathologists specialized in pediatric cancer re-evaluated pathological specimens to reach a consensus diagnosis; 42 patients were diagnosed with known subtypes of solid tumors whereas 5 patients were diagnosed with undifferentiated sarcoma. RNA-seq analysis confirmed and refined consensus diagnoses and further identified diagnostic genetic variants in four of the five patients with undifferentiated sarcoma. Genetic lesions were detected in 23 patients, including the novel SMARCA4-THOP1 fusion gene and 22 conventional or recently reported genetic events. Unsupervised clustering analysis of the RNA-seq data identified a distinct cluster defined by the overexpression of rhabdomyosarcoma-associated genes including MYOG and CHRNG. These findings suggest that RNA-seq-based genetic analysis may aid in the diagnosis of suspected pediatric sarcomas, which would be useful for the development of stratified treatment strategies. |
| تدمد: | 2056-7944 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8156ca9edd65b86ca568c78cd0b55b6Test https://doi.org/10.1038/s41525-021-00210-yTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f8156ca9edd65b86ca568c78cd0b55b6 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20567944 |
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