Search Results

You are looking at 1 - 1 of 1 items for

  • Author: Yiying Guo x
  • Refine by access: Content accessible to me x
Clear All Modify Search
Yuanliang Li Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

Search for other papers by Yuanliang Li in
Google Scholar
PubMed
Close
,
Yiying Guo Department of Integrative Oncology, China-Japan Friendship Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

Search for other papers by Yiying Guo in
Google Scholar
PubMed
Close
,
Zixuan Cheng Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

Search for other papers by Zixuan Cheng in
Google Scholar
PubMed
Close
,
Chao Tian Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

Search for other papers by Chao Tian in
Google Scholar
PubMed
Close
,
Yingying Chen Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

Search for other papers by Yingying Chen in
Google Scholar
PubMed
Close
,
Ruao Chen Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

Search for other papers by Ruao Chen in
Google Scholar
PubMed
Close
,
Fuhuan Yu Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China

Search for other papers by Fuhuan Yu in
Google Scholar
PubMed
Close
,
Yanfen Shi Department of Pathology, China-Japan Friendship Hospital, Beijing, China

Search for other papers by Yanfen Shi in
Google Scholar
PubMed
Close
,
Fei Su Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing, China

Search for other papers by Fei Su in
Google Scholar
PubMed
Close
,
Shuhua Zhao Department of Biological Information Research, HaploX Biotechnology Co., Ltd, Shenzhen, Guangdong, China

Search for other papers by Shuhua Zhao in
Google Scholar
PubMed
Close
,
Zhizheng Wang Academic Department, HaploX Biotechnology, Co., Ltd, Shenzhen, Guangdong, China

Search for other papers by Zhizheng Wang in
Google Scholar
PubMed
Close
,
Jie Luo Department of Pathology, China-Japan Friendship Hospital, Beijing, China

Search for other papers by Jie Luo in
Google Scholar
PubMed
Close
, and
Huangying Tan Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China
Department of Integrative Oncology, China-Japan Friendship Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China
Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing, China

Search for other papers by Huangying Tan in
Google Scholar
PubMed
Close

The genetic characteristics of rectal neuroendocrine tumors (R-NETs) were poorly understood. Depicting the genetic characteristics may provide a biological basis for prognosis prediction and novel treatment development. Tissues of 18 R-NET patients were analyzed using whole-exome sequencing. The median tumor mutation burden (TMB) and microsatellite instability (MSI) were 1.15 Muts/MB (range, 0.03–23.28) and 0.36 (range, 0.00–10.97), respectively. Genes involved in P53 signaling, PI3K-AKT signaling, DNA damage repair, WNT signaling, etc. were frequently altered. Higher TMB (P = 0.078), higher CNV (P = 0.110), somatic mutation of CCDC168 (P = 0.049), HMCN1 (P = 0.040), MYO10 (P = 0.007), and amplification of ZC3H13 (P < 0.001) were associated with shorter OS. Potentially targetable gene alterations (PTGAs) were seen in 72% of the patients. FGFR1 amplification (22%) was the most common PTGA followed by BARD1 and BRCA2 mutation (each 17%). As for gene variations associated with the efficacy of immune checkpoint blockade (ICB), FAT1 alteration (39%) and PTEN depletion (28%) were commonly observed. In conclusion, frequently altered oncogenic pathways might contribute to the development and progression of R-NETs. Gene alterations significantly associated with prognosis might be potential novel targets. Targeted therapy might be a promising strategy as targetable alterations were prevalent in R-NETs. FAT1 alteration and PTEN depletion might be the main genetic alterations influencing the response to ICB besides overall low TMB and MSI in R-NETs.

Open access