A unique case of rectal cancer with coexistence of multiple pathways of carcinogenesis.
World J Surg Oncol
; 21(1): 275, 2023 Sep 01.
Article
em En
| MEDLINE
| ID: mdl-37658412
ABSTRACT
BACKGROUND:
Colorectal cancer with a global incidence of 10% has multiple pathways implicated in its carcinogenesis. WNT signaling is the principal underlying pathway via APC gene, while defective mismatch repair genes and epigenetic changes also are known to contribute. CASE PRESENTATION Here, we present an unusual case of rectal adenocarcinoma in a woman, with germline MSH6 and PMS1 mutations, and simultaneous somatic APC and TP53 mutations treated with surgery and adjuvant capecitabine.CONCLUSIONS:
The case is unique suggesting a possible interaction between the two pathways and contributing to carcinogenesis in this patient. This also suggests need for a thorough germline and somatic mutation evaluation in select colorectal cancer patients to direct a tailored therapy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Limite:
Female
/
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article