Immature enteric ganglion cells were observed in a 13-year-old colon signet ring cell carcinoma patient: A case report and literature review

RATIONALE: All the enteric ganglion cells are fully mature by 2 to 5 years of age in human. No one had reported the presentation of immature enteric ganglion cells in elder ones. Colorectal carcinoma is also rare in the adolescent population. The coincidence of these 2 rare events in a 13-year-old boy has never been reported elsewhere, which may suggest some linkage between them. PATIENT CONCERN: A 13-year-old boy presented with progressive abdominal pain and melena for 3 months. Computed tomography (CT) scan and endoscopic ultrasonography showed significant abnormality in the transverse colon characteristic of marked mural thickening. The biopsy results indicated signet ring cell carcinoma. DIAGNOSES: A 13-year-old male patient with advanced colon signet ring cell carcinoma. In addition, immature but not mature ganglion cells could be observed in almost all of the slices of the resected nontumorous area of the specimen. INTERVENTIONS: The transverse colon tumor was resected and the subsequent histopathological examination confirmed the diagnosis of primary colon signet ring cell carcinoma. Then the patient received adjuvant chemotherapy and biological target therapies subsequently. OUTCOMES: After 6 cycles of adjuvant chemotherapy and biological target therapies, metastasis was however detected within a year. LESSONS: In this case, a 13-year-old male patient with advanced colon signet ring cell carcinoma were presented. Unexpectedly, immature ganglion cells could be observed in almost all of the slices of the resected nontumorous area of the specimen. It is critical to raise medical awareness and improve the diagnosis and treatment of the signet ring cell carcinoma. This malignancy and the immature ganglion cells may be associated, possibly caused by some unidentified genetic defects. Genome sequencing, histopathological examination, and long-term follow-up of young patients with related diseases, would help further reveal the potential relationship between tumorigenesis and ganglion cells’ immaturity, contributing to understanding the molecular mechanisms.