JPGN Reports · 6 authors, 3 centres
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Colorectal cancer (CRC) is extremely rare in children (1 case per million annually) and often diagnosed at advanced stages with poor prognosis. This case series of 5 pediatric patients found that bloody stool was the most common symptom, and 4 of 5 had mucinous adenocarcinoma, a histology associated with worse outcomes. Clinicians should consider CRC in children with unexplained abdominal pain, weight loss, or rectal bleeding to enable earlier diagnosis and treatment.
**Background:** Colorectal carcinoma (CRC) is exceedingly rare in individuals under 20 years of age, with an annual incidence of 1 case per million. Most published cases involve older adolescents, and pediatric-specific series are limited. CRC is often overlooked in the differential diagnosis of common pediatric symptoms such as abdominal pain, weight loss, and anemia. Children typically present with advanced-stage disease and unfavorable histopathology, leading to poorer outcomes compared to adults.
**Methods:** This retrospective case series reviewed five patients diagnosed with CRC between 2013 and 2018 at a single pediatric gastroenterology center. Data collected included demographics, presenting symptoms, endoscopic findings, histopathology, radiologic characteristics, treatments, and outcomes. All patients underwent colonoscopy and abdominal MRI. Histopathology was confirmed via biopsy or surgical specimen.
**Key Results:** The cohort included four males and one female, with ages at diagnosis ranging from 12 to 16 years. The most common presenting symptom was bloody stool (present in all 5 patients). Three patients (60%) had prominent weight loss, and one patient reported abdominal pain. Symptom duration ranged from 2 to 12 months. No patient had a family history of colorectal malignancy or polyposis syndromes. Colonoscopy revealed a rectal solid mass in 3 patients and a mass in the descending colon in 2 patients. Abdominal MRI detected liver metastasis in one patient (patient 1) at diagnosis. Histopathology showed poorly differentiated adenocarcinoma in one patient and mucinous adenocarcinoma in the remaining four. One patient (patient 2) refused treatment and was lost to follow-up. Of the four patients who underwent surgical resection, all received chemotherapy, and one also received radiotherapy. At the time of reporting, two patients were in remission, one was alive under surveillance, one had died (exitus), and one was lost to follow-up.
**Clinical Implications:** This case series highlights the rarity of pediatric CRC and the tendency for late-stage presentation. The predominance of mucinous adenocarcinoma (80% of cases) and the presence of metastasis at diagnosis in one patient underscore the aggressive nature of the disease in children. The absence of family history in most cases suggests that sporadic CRC can occur in this age group. Clinicians should maintain a high index of suspicion for CRC in children presenting with unexplained rectal bleeding, weight loss, or abdominal pain, even in the absence of known risk factors. Early colonoscopy is critical for diagnosis. Treatment strategies are largely extrapolated from adult protocols, but outcomes remain poor. Genetic testing for mismatch repair mutations should be considered in early-onset cases, as was relevant in one patient with a family history of adenomatous polyposis. The study is limited by its small sample size, retrospective design, and lack of genetic analysis in four patients.