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Phenotype submission - Primary adenocarcinoma of colon or rectum, MSI-H or dMMR, oncological treatment no surgery

Cohort Definition Name: Primary adenocarcinoma of colon or rectum, MSI-H or dMMR, oncological treatment no surgery

Contributor name: Andreas Weinberger Rosen

Contributor OrcId: 0000-0001-9990-8155

Logic Description: First event primary adenocarcinoma of the colon or rectum, with MSI-H or dMMR molecular subtype, treated with oncological treatment no curative surgery

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:
Colorectal cancer MSI-H or dMMR, oncological treatment no surgery.txt (112.5 KB)

Target Clinical Description

Colorectal cancer, primarily an adenocarcinoma, stands as the most prevalent malignant tumor affecting the intestinal tract. Originating in the epithelial cells that line the colon or rectum, the disease can escalate into a full-fledged malignant tumor through various molecular mechanisms. The disease manifests differently based on its anatomical location, its size, and its stage of development.
Presentation of Colorectal Cancer
Common Symptoms:

  • Hematochezia or blood in the stool
  • Diarrheal episodes or constipation
  • Sensation of incomplete bowel evacuation
  • Abdominal discomfort or pain
  • Unintentional weight loss
  • Nocturnal sweating
  • Anemia

Some patients may not display symptoms and are often diagnosed either via screening programs or incidental findings during other medical evaluations.

In some instances, colorectal cancer can escalate into an emergency scenario, leading to complications like bowel obstruction, acute lower gastrointestinal bleeding, or even bowel perforation.
Assessment for Colorectal Cancer

  • Colonoscopy for macroscopic evaluation and biopsy collection
  • Histopathology of the biopsy tissue serves as a cornerstone for diagnosis
  • Various imaging modalities such as CT, PET, and MRI for clinical staging
  • Histological evaluation of surgical or metastatic samples for pathological staging

Differential Diagnosis of Colorectal Cancer

  • Other intestinal neoplasms like neuroendocrine tumors or advanced polyps
  • Diverticular disease
  • Hemorrhoidal issues
  • Anal fissures
  • Irritable Bowel Syndrome (IBS)
  • Inflammatory Bowel Disease (IBD)

Treatment Plan for Colorectal Cancer

  • For localized or regionally-confined cancers, surgical resection along with the affected intestinal segment remains the standard care, often supplemented by neoadjuvant or adjuvant therapies like chemotherapy or radiation.
  • In cases of solitary metastasis, radical surgery may be augmented by radiofrequency ablation, stereotactic radiation, or additional surgeries for metastatic lesions, aiming for curative outcomes.
  • For those without curative options, palliative measures, including oncological treatments and surgical interventions, are employed to improve symptoms and extend life expectancy.
  • Patients with specific molecular profiles, such as 'deficient mismatch repair' or high microsatellite instability, may benefit from treatments involving immune checkpoint inhibitors.

Prognosis for Colorectal Cancer

The prognosis hinges on multiple factors, in general when no curative surgery is avaliable prognosis is poor. In general patients with advanced disease with the dMMR/MSI-H subtype have worse progosis compared with pMMR/MSI-L, and dMMR/MSI-H is associated with less response to oncological therapy

Assignment for Peer Review:
Peer review of the phenotype would be more than welcome

Imported to the OHDSI Phenotype Library. It may be expected to be found with id = 823 in the next release. Thank you