Genomic analysis for the prediction of prognosis in small-bowel cancer

The current understanding of clinicopathological features and genomic variants of small-bowel cancer is limited, in part due to the rarity of the disease. However, understanding of these factors is necessary for the development of novel therapeutic agents for small-bowel cancer. Thus, we aimed to id...

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Published in:PloS one 2021-05, Vol.16 (5), p.e0241454-e0241454
Main Authors: Tsuboi, Akiyoshi, Urabe, Yuji, Oka, Shiro, Sumioka, Akihiko, Iio, Sumio, Yuge, Ryo, Hayashi, Ryohei, Kuwai, Toshio, Kitadai, Yasuhiko, Kuraoka, Kazuya, Arihiro, Koji, Tanaka, Shinji, Chayama, Kazuaki
Format: Article
Language:English
Subjects:
Analysis
Antibodies
Autoimmune diseases
Biology and Life Sciences
Body mass
Body mass index
Body size
Cancer
Celiac disease
Classification
Colorectal cancer
Diagnosis
Digestive tract
Disease
Editing
Endoscopy
Gastroenterology
Gastrointestinal cancer
Gastrointestinal tract
Genetic aspects
Genetic testing
Genomic analysis
Genomics
Health aspects
Health care facilities
Hospitals
Low fat diet
Medical prognosis
Medical records
Medicine and Health Sciences
Metabolism
Metastasis
Nutrient deficiency
Obesity
Pathology
Patients
Population
Prognosis
Race factors
Regeneration
Research facilities
Small intestine
Small intestine cancer
Tumors
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creator Tsuboi, Akiyoshi
Urabe, Yuji
Oka, Shiro
Sumioka, Akihiko
Iio, Sumio
Yuge, Ryo
Hayashi, Ryohei
Kuwai, Toshio
Kitadai, Yasuhiko
Kuraoka, Kazuya
Arihiro, Koji
Tanaka, Shinji
Chayama, Kazuaki
description The current understanding of clinicopathological features and genomic variants of small-bowel cancer is limited, in part due to the rarity of the disease. However, understanding of these factors is necessary for the development of novel therapeutic agents for small-bowel cancer. Thus, we aimed to identify the clinicopathological features and genomic variants associated with its prognosis and recurrence. We retrospectively examined 24 consecutive patients with primary small-bowel cancer surgically treated between May 2005 and August 2018 and collected 29 tumor specimens. The 29 lesions were subjected to mismatch repair status evaluation, using immunohistochemistry (IHC), and targeted genomic sequencing, after which they were analyzed using a panel of 90 cancer-related genes. IHC revealed that 45% (13/29) of the lesions exhibited deficient mismatch repair. The most common genomic variants in small-bowel cancers were in TP53 (48%, 13/27), followed by KRAS (44%, 12/27), ARID1A (33%, 9/27), PIK3CA (26%, 7/27), APC (26%, 7/27), and SMAD4, NOTCH3, CREBBP, PTCH1, and EP300 (22%, 6/27 each). Overall survival and disease-specific survival of patients with tumor mutational burden (TMB) ≥10 mutations/Mb (n = 17) were significantly better than those of patients with TMB
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However, understanding of these factors is necessary for the development of novel therapeutic agents for small-bowel cancer. Thus, we aimed to identify the clinicopathological features and genomic variants associated with its prognosis and recurrence. We retrospectively examined 24 consecutive patients with primary small-bowel cancer surgically treated between May 2005 and August 2018 and collected 29 tumor specimens. The 29 lesions were subjected to mismatch repair status evaluation, using immunohistochemistry (IHC), and targeted genomic sequencing, after which they were analyzed using a panel of 90 cancer-related genes. IHC revealed that 45% (13/29) of the lesions exhibited deficient mismatch repair. The most common genomic variants in small-bowel cancers were in TP53 (48%, 13/27), followed by KRAS (44%, 12/27), ARID1A (33%, 9/27), PIK3CA (26%, 7/27), APC (26%, 7/27), and SMAD4, NOTCH3, CREBBP, PTCH1, and EP300 (22%, 6/27 each). Overall survival and disease-specific survival of patients with tumor mutational burden (TMB) ≥10 mutations/Mb (n = 17) were significantly better than those of patients with TMB &lt;10 mutations/Mb (n = 6). Additionally, patients with a mutant SMAD4 had poorer recurrence-free survival than those with wild-type SMAD4. Our results suggested that TMB and SMAD4 mutations were associated with the prognosis of small-bowel cancer patients. Thus, cancer genomic analysis could be useful in the search for biomarkers of prognosis prediction in small-bowel cancers.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>34014970</pmid><doi>10.1371/journal.pone.0241454</doi><tpages>e0241454</tpages><orcidid>https://orcid.org/0000-0003-0942-1541</orcidid><orcidid>https://orcid.org/0000-0002-1652-0743</orcidid><oa>free_for_read</oa></addata></record>
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identifier ISSN: 1932-6203
ispartof PloS one, 2021-05, Vol.16 (5), p.e0241454-e0241454
issn 1932-6203
1932-6203
language eng
recordid cdi_plos_journals_2529910064
source PMC (PubMed Central); Publicly Available Content (ProQuest)
subjects Analysis
Antibodies
Autoimmune diseases
Biology and Life Sciences
Body mass
Body mass index
Body size
Cancer
Celiac disease
Classification
Colorectal cancer
Diagnosis
Digestive tract
Disease
Editing
Endoscopy
Gastroenterology
Gastrointestinal cancer
Gastrointestinal tract
Genetic aspects
Genetic testing
Genomic analysis
Genomics
Health aspects
Health care facilities
Hospitals
Low fat diet
Medical prognosis
Medical records
Medicine and Health Sciences
Metabolism
Metastasis
Nutrient deficiency
Obesity
Pathology
Patients
Population
Prognosis
Race factors
Regeneration
Research facilities
Small intestine
Small intestine cancer
Tumors
title Genomic analysis for the prediction of prognosis in small-bowel cancer
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