Cohort Definition Name: Primary adenocarcinoma of colon MSI-H or dMMR
Contributor name: Andreas Weinberger Rosen
Contributor OrcId: 0000-0001-9990-8155
Logic Description: First event of a primary adenocarcinoma of colon with MSI-H / pMMR molecular profile
Recommended study application: exposure.
Assertion statement: This cohort definition was executed on at least one real person-level observational health data source and resulted in a cohort with at least 1 person.
Submitted cohort definition:
Primary adenocarcinoma of colon MSI-H or dMMR.txt.txt (59.7 KB)
Target Clinical Description
Colon cancer, an adenocarcinoma of the colon, is a significant malignant entity affecting the large intestine. This malignancy initiates in the epithelial cells lining the colon and can evolve into a malignant mass via multiple molecular pathways. The clinical manifestations of colon cancer are influenced by its anatomical positioning, size, and stage at the time of diagnosis.
Presentation of Colon Cancer
Common Symptoms:
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Hematochezia or blood in the stool -
Altered bowel habits, including diarrhea and constipation -
Feeling of incomplete evacuation of the bowels -
Abdominal pain or discomfort -
Sudden weight loss -
Night sweats -
Anemia
A subset of patients may be asymptomatic and could be identified through screening initiatives or during unrelated medical evaluations.
In severe cases, colon cancer may present emergently, manifesting as complications such as bowel obstruction, acute gastrointestinal bleeding, or perforation.
Assessment for Colon Cancer
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Colonoscopy for the gross examination and biopsy procurement -
Histopathological evaluation of the biopsy is foundational for diagnosis -
Advanced imaging techniques like CT, PET, and MRI for clinical staging -
Histological assessment of surgical or metastatic tissue for pathological staging
Differential Diagnosis of Colon Cancer
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Alternative intestinal tumors, including neuroendocrine tumors or advanced adenomatous polyps -
Diverticulitis -
Irritable Bowel Syndrome (IBS) -
Inflammatory Bowel Disease (IBD)
Treatment Plan for Colon Cancer
Standard treatment for localized or regionally confined cancer involves surgical resection of the tumor and the segment of the colon, with the possibility of addition of neoadjuvant or adjuvant antineoplastic drug treatment or radiotherapy. For solitary metastases, curative treatment might be possible through surgery combind with radiofrequency ablation, metastectomy, sterotatic radiation and other oncological therapies. For patients with non-curable disease oncological and surgical tretment might be used to improve quality of life of improce lifespan. Patients with tumor with deficient mismatch repair or microsatellite instability-high may be candidates for immune checkpoint inhibitor therapy.
Prognosis for Colon Cancer
The prognosis depends on several factors such as the stage of the disease at diagnosis and the possibility to offer curative treatment, along with other comorbidities. A diagnosis at an early stage followed by curative surgery usually indicates a more favorable prognosis, while late-stage or emergency presentations are generally associated with poorer outcomes. Tunors with an dMMR/ MSI-H molecular profile generally have a better prognosis compared with tumors with a pMMR/MSI-L
Assignment for Peer Review:
Peer review of the phenotype would be more than welcome