التفاصيل البيبلوغرافية
| العنوان: |
Comprehensive Genomic Profiling of Neuroendocrine Carcinomas of the Gastrointestinal System |
| المؤلفون: |
Yachida, Shinichi, Totoki, Yasushi, Noe, Michael, Nakatani, Yoichiro, Horie, Masafumi, Kawasaki, Kenta, Nakamura, Hiromi, Saito-Adachi, Mihoko, Suzuki, Masami, Takai, Erina, Hama, Natsuko, Higuchi, Ryota, Hirono, Seiko, Shiba, Satoshi, Kato, Mamoru, Furukawa, Eisaku, Arai, Yasuhito, Rokutan, Hirofumi, Hashimoto, Taiki, Mitsunaga, Shuichi, Kanda, Mitsuro, Tanaka, Hidenori, Takata, So, Shimomura, Ayaka, Oshima, Minoru, Hackeng, Wenzel M, Okumura, Tomoyuki, Okano, Keiichi, Yamamoto, Masakazu, Yamaue, Hiroki, Morizane, Chigusa, Arihiro, Koji, Furukawa, Toru, Sato, Toshiro, Kiyono, Tohru, Brosens, Lodewijk A A, Wood, Laura D, Hruban, Ralph H, Shibata, Tatsuhiro |
| المساهمون: |
Pathologie Groep Brosens, Cancer, Pathologie Pathologen staf |
| سنة النشر: |
2022 |
| مصطلحات موضوعية: |
Oncology, Journal Article |
| الوصف: |
The neuroendocrine carcinoma of the gastrointestinal system (GIS-NEC) is a rare but highly malignant neoplasm. We analyzed 115 cases using whole-genome/exome sequencing, transcriptome sequencing, DNA methylation assays, and/or ATAC-seq and found GIS-NECs to be genetically distinct from neuroendocrine tumors (GIS-NET) in the same location. Clear genomic differences were also evident between pancreatic NECs (Panc-NEC) and nonpancreatic GIS-NECs (Nonpanc-NEC). Panc-NECs could be classified into two subgroups (i.e., "ductal-type" and "acinar-type") based on genomic features. Alterations in TP53 and RB1 proved common in GIS-NECs, and most Nonpanc-NECs with intact RB1 demonstrated mutually exclusive amplification of CCNE1 or MYC. Alterations of the Notch gene family were characteristic of Nonpanc-NECs. Transcription factors for neuroendocrine differentiation, especially the SOX2 gene, appeared overexpressed in most GIS-NECs due to hypermethylation of the promoter region. This first comprehensive study of genomic alterations in GIS-NECs uncovered several key biological processes underlying genesis of this very lethal form of cancer. SIGNIFICANCE: GIS-NECs are genetically distinct from GIS-NETs. GIS-NECs arising in different organs show similar histopathologic features and share some genomic features, but considerable differences exist between Panc-NECs and Nonpanc-NECs. In addition, Panc-NECs could be classified into two subgroups (i.e., "ductal-type" and "acinar-type") based on genomic and epigenomic features. This article is highlighted in the In This Issue feature, p. 587. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| تدمد: |
2159-8274 |
| العلاقة: |
https://dspace.library.uu.nl/handle/1874/444574Test |
| الإتاحة: |
https://dspace.library.uu.nl/handle/1874/444574Test |
| حقوق: |
info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: |
edsbas.D4CCDC0 |
| قاعدة البيانات: |
BASE |
