Early-onset colorectal cancer in pediatric patient.

Abstract

The incidence of early-onset colorectal cancer is rising, largely driven by underlying genetic mutations. While many countries have implemented screening programs for individuals under 45 years of age, colorectal cancer in pediatric patients remains exceedingly rare and often unexpected. As a result, children diagnosed with colorectal cancer frequently present with advanced-stage disease, commonly due to obstructive symptoms. In this case report, we describe the clinical presentation and management of a 17-year-old female patient who was admitted with an obstructing tumor at the splenic flexure.A 17-year-old girl with cerebral palsy was referred to our center with a 10-day history of obstructive symptoms. She had a four-month history of constipation with multiple hospital admissions. Following an evaluation by the pediatric surgery team in the emergency department, a computed tomography scan was performed, revealing a 4 cm tumor at the splenic flexure with signs of obstruction and suspected metastatic mesenteric lymphadenopathy. Once the diagnosis was confirmed, the pediatric surgery team referred the patient to the colorectal surgery team. The colorectal surgeons recommended laparotomy, which was performed through a midline incision. An extended left hemicolectomy with a Mikulicz colostomy was carried out. The patient was discharged on postoperative day 7 without complications. Histopathological analysis revealed mucinous adenocarcinoma with 17 metastatic lymph nodes out of 42 harvested. No BRAF, KRAS, or NRAS mutations were detected; mismatch repair protein expression was intact. Genetic counseling identified a variant of uncertain significance in the ATM gene. The patient was subsequently referred for adjuvant chemotherapy. Pediatric-onset colorectal cancer should be considered in the differential diagnosis of children presenting with persistent gastrointestinal symptoms, as delayed recognition may lead to advanced disease. Genetic counseling plays a crucial role in management, underscoring the need for surgeon awareness and multidisciplinary collaboration.