Clinicopathologic features and prognostic analysis of colonic rhabdoid carcinoma:a case report and literature review
10.7659/j.issn.1005-6947.240650
- VernacularTitle:结肠横纹肌样癌的临床病理特征及预后分析:病例报告与文献回顾
- Author:
Qilin ZHOU
1
;
Yuqiang LI
1
;
Linyi ZHENG
1
;
Zui TAO
1
;
Fengbo TAN
1
;
Qian PEI
1
;
Yuan ZHOU
1
;
Haiping PEI
1
Author Information
1. 中南大学湘雅医院 胃肠外科,湖南 长沙 410008
- Publication Type:Journal Article
- Keywords:
Colonic Neoplasms;
Rhabdoid Carcinoma;
SMARCB1 Protein;
Prognosis
- From:
Chinese Journal of General Surgery
2025;34(10):2148-2158
- CountryChina
- Language:Chinese
-
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.
