Cargando…

Novel mutations in a second primary gastric cancer in a patient treated for primary colon cancer

A 60-year-old man presented with complaints of abdominal pain and melena. Patient had a history of colon cancer 16 years back and had undergone right hemi colectomy for microsatellite instability (MSI) negative, mismatch repair (MMR) stable, T2N0 disease with no mutations on next-generation sequenci...

Descripción completa

Detalles Bibliográficos
Autores principales: Purwar, Roli, Tripathi, Madhumita, Rajput, Monika, Pal, Manjusha, Pandey, Manoj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246045/
https://www.ncbi.nlm.nih.gov/pubmed/37287033
http://dx.doi.org/10.1186/s12957-023-03057-y
_version_ 1785054967755702272
author Purwar, Roli
Tripathi, Madhumita
Rajput, Monika
Pal, Manjusha
Pandey, Manoj
author_facet Purwar, Roli
Tripathi, Madhumita
Rajput, Monika
Pal, Manjusha
Pandey, Manoj
author_sort Purwar, Roli
collection PubMed
description A 60-year-old man presented with complaints of abdominal pain and melena. Patient had a history of colon cancer 16 years back and had undergone right hemi colectomy for microsatellite instability (MSI) negative, mismatch repair (MMR) stable, T2N0 disease with no mutations on next-generation sequencing (NGS). Investigations revealed a second primary in stomach (intestinal type of adenocarcinoma) with no recurrent lesions in colon or distant metastasis. He was started on CapOx with Bevacizumab and developed gastric outlet obstruction. Total gastrectomy with D2 lymphadenectomy and Roux-en-Y oesophageao-jejunal pouch anastomosis was done. The histopathology showed intestinal type of adenocarcinoma with pT3N2 disease. NGS showed 3 novel mutations in KMT2A, LTK, and MST1R gene. The pathway enrichment analysis and Gene Ontology were carried out, followed by the construction of protein–protein interaction network to discover associations among the genes. The results suggested that these mutations have not been reported in gastric cancer earlier and despite not having a direct pathway of carcinogenesis they probably act through modulation of host of miRNA’s. Further studies are needed to investigate the role of KMT2A, LTK, and MST1R gene in gastric carcinogenesis.
format Online
Article
Text
id pubmed-10246045
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-102460452023-06-08 Novel mutations in a second primary gastric cancer in a patient treated for primary colon cancer Purwar, Roli Tripathi, Madhumita Rajput, Monika Pal, Manjusha Pandey, Manoj World J Surg Oncol Review A 60-year-old man presented with complaints of abdominal pain and melena. Patient had a history of colon cancer 16 years back and had undergone right hemi colectomy for microsatellite instability (MSI) negative, mismatch repair (MMR) stable, T2N0 disease with no mutations on next-generation sequencing (NGS). Investigations revealed a second primary in stomach (intestinal type of adenocarcinoma) with no recurrent lesions in colon or distant metastasis. He was started on CapOx with Bevacizumab and developed gastric outlet obstruction. Total gastrectomy with D2 lymphadenectomy and Roux-en-Y oesophageao-jejunal pouch anastomosis was done. The histopathology showed intestinal type of adenocarcinoma with pT3N2 disease. NGS showed 3 novel mutations in KMT2A, LTK, and MST1R gene. The pathway enrichment analysis and Gene Ontology were carried out, followed by the construction of protein–protein interaction network to discover associations among the genes. The results suggested that these mutations have not been reported in gastric cancer earlier and despite not having a direct pathway of carcinogenesis they probably act through modulation of host of miRNA’s. Further studies are needed to investigate the role of KMT2A, LTK, and MST1R gene in gastric carcinogenesis. BioMed Central 2023-06-07 /pmc/articles/PMC10246045/ /pubmed/37287033 http://dx.doi.org/10.1186/s12957-023-03057-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Review
Purwar, Roli
Tripathi, Madhumita
Rajput, Monika
Pal, Manjusha
Pandey, Manoj
Novel mutations in a second primary gastric cancer in a patient treated for primary colon cancer
title Novel mutations in a second primary gastric cancer in a patient treated for primary colon cancer
title_full Novel mutations in a second primary gastric cancer in a patient treated for primary colon cancer
title_fullStr Novel mutations in a second primary gastric cancer in a patient treated for primary colon cancer
title_full_unstemmed Novel mutations in a second primary gastric cancer in a patient treated for primary colon cancer
title_short Novel mutations in a second primary gastric cancer in a patient treated for primary colon cancer
title_sort novel mutations in a second primary gastric cancer in a patient treated for primary colon cancer
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246045/
https://www.ncbi.nlm.nih.gov/pubmed/37287033
http://dx.doi.org/10.1186/s12957-023-03057-y
work_keys_str_mv AT purwarroli novelmutationsinasecondprimarygastriccancerinapatienttreatedforprimarycoloncancer
AT tripathimadhumita novelmutationsinasecondprimarygastriccancerinapatienttreatedforprimarycoloncancer
AT rajputmonika novelmutationsinasecondprimarygastriccancerinapatienttreatedforprimarycoloncancer
AT palmanjusha novelmutationsinasecondprimarygastriccancerinapatienttreatedforprimarycoloncancer
AT pandeymanoj novelmutationsinasecondprimarygastriccancerinapatienttreatedforprimarycoloncancer