To describe disease stage, symptoms, tumor characteristics, recurrence, and outcomes among patients aged 21 or younger diagnosed with colorectal cancer.
Approach:
Study design: Researchers retrospectively reviewed records for 84 patients diagnosed from 2012 to 2023 at 34 institutions.
Participants: Patients with previously diagnosed hereditary cancer predisposition syndromes or inflammatory bowel disease were excluded; median age at diagnosis was 16.5 years.
Key Findings:
At diagnosis, 80% had stage III or IV disease; 20% reported a first- or second-degree relative with colorectal cancer.
Common symptoms included abdominal or back pain (74%), changes in bowel habits (45%), weight loss (43%), and rectal bleeding (38%). Median symptom duration was 12 weeks, and median time to colonoscopy was 13 weeks.
About 42% had poorly differentiated tumors, one-third had signet ring features, and 39% had mucinous features.
Disease recurred in 37% of patients, typically within 11 months. Recurrence was associated with lymph node involvement, poor differentiation, and signet ring features.
During the study period, 45% died from colorectal cancer. Germline testing identified variants involving mismatch repair genes, TP53, and APC among tested patients.
Interpretation:
The study authors emphasize investigating persistent gastrointestinal symptoms in younger patients, including those without known hereditary predisposition, and note the relevance of histopathological assessment and genetic evaluation.
Limitations:
The retrospective study cannot establish whether colorectal cancer incidence is increasing or determine the causes of delayed diagnosis.
Conclusion:
The authors highlight the need for timely investigation and coordinated pediatric and adult oncology care.
The session will provide practical insights for pathologists, molecular biologists, and laboratory professionals interested in applying digital PCR technologies for ESR1 research and assay workflow optimization.
