Genetic analysis of Japanese patients with small bowel adenocarcinoma using next-generation sequencing

Background: Small bowel adenocarcinomas (SBAs) are rare and there is little comprehensive data on SBA genomic alterations for Asian patients. This study aimed to profile genomic alterations of SBA in Japanese patients using targeted next-generation sequencing (NGS). Methods: We examined 22 surgical...

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Main Authors: Akimoto, N. (Author), Fujimori, S. (Author), Furuki, H. (Author), Gudis, K. (Author), Hoshimoto, A. (Author), Iwakiri, K. (Author), Nishimoto, T. (Author), Omori, J. (Author), Shimizu, A. (Author), Tanaka, S. (Author), Tatsuguchi, A. (Author), Ueda, K. (Author), Yamada, T. (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2022
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Online Access:View Fulltext in Publisher
LEADER 02675nam a2200337Ia 4500
001 10.1186-s12885-022-09824-6
008 220718s2022 CNT 000 0 und d
020 |a 14712407 (ISSN) 
245 1 0 |a Genetic analysis of Japanese patients with small bowel adenocarcinoma using next-generation sequencing 
260 0 |b BioMed Central Ltd  |c 2022 
856 |z View Fulltext in Publisher  |u https://doi.org/10.1186/s12885-022-09824-6 
520 3 |a Background: Small bowel adenocarcinomas (SBAs) are rare and there is little comprehensive data on SBA genomic alterations for Asian patients. This study aimed to profile genomic alterations of SBA in Japanese patients using targeted next-generation sequencing (NGS). Methods: We examined 22 surgical resections from patients with primary SBA. SBA genomic alterations were analyzed by NGS. Mismatch repair (MMR) status was determined by immunohistochemical analysis. Mucin phenotypes were classified as gastric (G), intestinal (I), gastrointestinal (GI), and null (N) types on MUC2, MUC5AC, MUC6, and CD10 immunostaining. Results: The most common genomic alterations found in SBA tumors were TP53 (n = 16), followed by KRAS (n = 6), APC (n = 5), PIK3CA (n = 4), CTNNB1 (n = 3), KIT (n = 2), BRAF (n = 2), CDKN2A (n = 2), and PTEN (n = 2). Deficient MMR tumors were observed in 6 out of 22 patients. Tumor mucin phenotypes included 2 in G-type, 12 in I-type, 3 in GI-type, and 5 in N-type. APC and CTNNB1 mutations were not found in G-type and GI-type tumors. KRAS mutations were found in all tumor types except for G-type tumors. TP53 mutations were found in all tumor types. Although no single gene mutation was associated with overall survival (OS), we found that KRAS mutations were associated with significant worse OS in patients with proficient MMR tumors. Conclusions: SBA genomic alterations in Japanese patients do not differ significantly from those reports in Western countries. Tumor localization, mucin phenotype, and MMR status all appear to impact SBA gene mutations. © 2022, The Author(s). 
650 0 4 |a Genomic alterations 
650 0 4 |a Japanese 
650 0 4 |a MMR status 
650 0 4 |a Mucin phenotype 
650 0 4 |a Small bowel adenocarcinoma 
700 1 |a Akimoto, N.  |e author 
700 1 |a Fujimori, S.  |e author 
700 1 |a Furuki, H.  |e author 
700 1 |a Gudis, K.  |e author 
700 1 |a Hoshimoto, A.  |e author 
700 1 |a Iwakiri, K.  |e author 
700 1 |a Nishimoto, T.  |e author 
700 1 |a Omori, J.  |e author 
700 1 |a Shimizu, A.  |e author 
700 1 |a Tanaka, S.  |e author 
700 1 |a Tatsuguchi, A.  |e author 
700 1 |a Ueda, K.  |e author 
700 1 |a Yamada, T.  |e author 
773 |t BMC Cancer