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Abstract：
BACKGROUND: 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.
METHODS: 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.
METHODS: 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.
METHODS: 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.
RESULTS: After 6 cycles of adjuvant chemotherapy and biological target therapies, metastasis was however detected within a year.
CONCLUSIONS: 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.
METHODS: 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.
METHODS: 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.
METHODS: 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.
RESULTS: After 6 cycles of adjuvant chemotherapy and biological target therapies, metastasis was however detected within a year.
CONCLUSIONS: 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.
摘要：
背景：人类所有的肠神经节细胞在2至5岁时都完全成熟。没有人报道过未成熟的肠神经节细胞在老年人中的出现。大肠癌在青少年人群中也很少见。一个13岁男孩发生的这两个罕见事件的巧合从未在其他地方报道过，这可能表明它们之间存在某种联系。
方法：一名13岁男孩出现进行性腹痛和黑便3个月。计算机断层扫描（CT）扫描和内窥镜超声检查显示横结肠明显异常，具有明显的壁增厚特征。活检结果提示印戒细胞癌。
方法：一名13岁男性晚期结肠印戒细胞癌患者。此外,在标本切除的非肿瘤区域的几乎所有切片中都可以观察到未成熟但不成熟的神经节细胞。
方法：切除横结肠肿瘤，随后的组织病理学检查证实诊断为原发性结肠印戒细胞癌。随后患者接受辅助化疗和生物靶向治疗。
结果：经过6个周期的辅助化疗和生物靶向治疗，然而，在一年内检测到转移。
结论：在这种情况下，报道1例13岁男性晚期结肠印戒细胞癌患者.出乎意料的是,在标本切除的非肿瘤区域的几乎所有切片中都可以观察到未成熟的神经节细胞。提高医学认识，提高印戒细胞癌的诊断和治疗水平至关重要。这种恶性肿瘤可能与未成熟的神经节细胞有关，可能是由一些身份不明的遗传缺陷造成的.基因组测序，组织病理学检查,以及相关疾病的年轻患者的长期随访，将有助于进一步揭示肿瘤发生和神经节细胞不成熟之间的潜在关系，有助于理解分子机制。
方法：一名13岁男孩出现进行性腹痛和黑便3个月。计算机断层扫描（CT）扫描和内窥镜超声检查显示横结肠明显异常，具有明显的壁增厚特征。活检结果提示印戒细胞癌。
方法：一名13岁男性晚期结肠印戒细胞癌患者。此外,在标本切除的非肿瘤区域的几乎所有切片中都可以观察到未成熟但不成熟的神经节细胞。
方法：切除横结肠肿瘤，随后的组织病理学检查证实诊断为原发性结肠印戒细胞癌。随后患者接受辅助化疗和生物靶向治疗。
结果：经过6个周期的辅助化疗和生物靶向治疗，然而，在一年内检测到转移。
结论：在这种情况下，报道1例13岁男性晚期结肠印戒细胞癌患者.出乎意料的是,在标本切除的非肿瘤区域的几乎所有切片中都可以观察到未成熟的神经节细胞。提高医学认识，提高印戒细胞癌的诊断和治疗水平至关重要。这种恶性肿瘤可能与未成熟的神经节细胞有关，可能是由一些身份不明的遗传缺陷造成的.基因组测序，组织病理学检查,以及相关疾病的年轻患者的长期随访，将有助于进一步揭示肿瘤发生和神经节细胞不成熟之间的潜在关系，有助于理解分子机制。
