Novel mutations in a second primary gastric cancer in a patient treated for primary colon cancer.
Journal
World journal of surgical oncology
ISSN: 1477-7819
Titre abrégé: World J Surg Oncol
Pays: England
ID NLM: 101170544
Informations de publication
Date de publication:
07 Jun 2023
07 Jun 2023
Historique:
received:
29
04
2023
accepted:
30
05
2023
medline:
9
6
2023
pubmed:
8
6
2023
entrez:
7
6
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37287033
doi: 10.1186/s12957-023-03057-y
pii: 10.1186/s12957-023-03057-y
pmc: PMC10246045
doi:
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
173Informations de copyright
© 2023. The Author(s).
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