周祁林 1李玉强 1郑林熠 1陶醉 1谭风波 1裴谦 1周园 1裴海平1
作者信息
- 1. 中南大学湘雅医院 胃肠外科,湖南 长沙 410008
- 折叠
摘要
Abstract
Background and Aims:Rhabdoid carcinoma of the colon(RCC)is an exceptionally rare and highly aggressive malignancy characterized by early metastasis and poor prognosis,with no standardized treatment available.We report a case of ascending colon RCC and summarize previously published cases to improve understanding of its clinicopathologic and molecular features.
Methods:The clinical data,imaging,pathology,and immunohistochemistry of one patient treated at Xiangya Hospital were retrospectively analyzed.In addition,36 published RCC cases were systematically reviewed.Clinical characteristics,tumor location,immunophenotype,molecular alterations,treatments,and survival outcomes were extracted and summarized.
Results:A 71-year-old man presented with abdominal distension,pain,and altered bowel habits.Imaging and colonoscopy indicated an obstructing ascending colon mass.Laparoscopic right hemicolectomy was performed.Pathology revealed poorly differentiated RCC infiltrating the serosa with 4/21 lymph-node metastases.Immunohistochemistry showed AE1/AE3(+),vimentin(+),CDX2(-),CK20(-),and Ki-67(80%+),with retained INI1 expression.Genetic testing indicated KRAS mutation and wild-type BRAFV600E.The patient received no adjuvant therapy and died of peritoneal metastasis within 3 months.Including this case,37 RCC patients(male to female ratio=1.3∶1;mean age 66 years)have been documented.Sixty-two percent of tumors were right-sided.Most exhibited rhabdoid morphology with diffuse vimentin positivity(97.06%)and AE1/AE3 positivity(100.00%),while CDX2 was negative in 85.71%.BRAFV600E mutation was present in 65.00%,and KRAS mutation in 22.73%of tested cases.Among 28 patients with MMR data,60.71%were pMMR and 39.29%dMMR.Although surgery was the primary treatment,78.79%of patients died within 1 year(median survival 6.0 months),with only a few long-term survivors following adjuvant chemotherapy or immunotherapy.
Conclusion:RCC is a rapidly progressive colorectal malignancy with extremely poor prognosis and limited response to conventional chemotherapy.Tumor dedifferentiation,INI1 deficiency,and alterations in KRAS/BRAF-MAPK signaling may contribute to its pathogenesis.Surgery remains the mainstay of treatment,but incorporation of immunotherapy,targeted agents,and radiotherapy may offer potential benefits.Further studies are urgently needed to define effective therapeutic strategies.关键词
结肠肿瘤/横纹肌样癌/SMARCB1蛋白/预后Key words
Colonic Neoplasms/Rhabdoid Carcinoma/SMARCB1 Protein/Prognosis分类
医药卫生
