1.Clinicopathologic features and prognostic analysis of colonic rhabdoid carcinoma:a case report and literature review
Qilin ZHOU ; Yuqiang LI ; Linyi ZHENG ; Zui TAO ; Fengbo TAN ; Qian PEI ; Yuan ZHOU ; Haiping PEI
Chinese Journal of General Surgery 2025;34(10):2148-2158
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.
2.Clinicopathologic features and prognostic analysis of colonic rhabdoid carcinoma:a case report and literature review
Qilin ZHOU ; Yuqiang LI ; Linyi ZHENG ; Zui TAO ; Fengbo TAN ; Qian PEI ; Yuan ZHOU ; Haiping PEI
Chinese Journal of General Surgery 2025;34(10):2148-2158
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.
3.Association of NLRC3 with prognosis and tumor immunity in patients with stage III colorectal cancer.
Dan WANG ; Qian PEI ; Fengbo TAN ; Yuan ZHOU ; Kangtao WANG ; Haiping PEI
Journal of Central South University(Medical Sciences) 2019;44(5):535-543
To explore the association of nucleotide binding oligomerization domain-like receptor family caspase recruitment domain containing 3 (NLRC3) with prognosis and tumor immunity in patients with stage III colorectal cancer.
Methods: Data of 122 patients with stage III colorectal cancer, who underwent radical resection from 2012 to 2013 in Xiangya Hospital of Central South University, were retrospectively collected. The expressions of NLRC3 and CD8+ were examined by immumohistochemical (IHC) staining. The preoperative clinical data were used to obtain neutrophil to lymphocyte ratio (NLR), and the stability of microsatellite was determined. The relationship between NLRC3 and clinicopathological factors was analyzed by χ2 test, and the independent prognostic factors for patients with stage III colorectal cancer were determined by COX regression model.
Results: The expression of NLRC3 was significantly associated with CD8+ T cells infiltration (χ2=27.79, P<0.01), NLR (χ2=6.35, P<0.05), lymph node metastasis (LN) (χ2=10.12, P<0.01) and microsatellite stability (χ2=6.05, P<0.05). NLRC3 (OR=0.066, 95% CI 0.020 to 0.218), vascular emboli (OR=3.119, 95% CI 1.547 to 6.286) and NLR (OR=5.103, 95% CI 2.465 to 10.563) had an effect on overall survival (OS) for patients with stage III colorectal cancer (all P<0.05). In addition, NLRC3 (OR=0.144, 95% CI 0.055 to 0.377), vascular emboli (OR=3.589, 95% CI 1.859 to 6.932) and NLR (OR=2.939, 95% CI 1.509 to 5.723) also had an effect on disease-free survival (DFS) for patients with stage III colorectal cancer (all P<0.05).
Conclusion: NLRC3, intravascular emboli and NLR are independent prognostic factors for patients with stage III colorectal cancer. NLRC3 might be a good prognostic factor for patients with stage III colorectal cancer due to its capacity of inhibiting systemic inflammation and promoting local anti-tumor immunity.
Colorectal Neoplasms
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Humans
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Intercellular Signaling Peptides and Proteins
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metabolism
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Lymphocytes
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Neoplasm Staging
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Neutrophils
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Prognosis
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Retrospective Studies
4.Expression of regulatory factor R-spondin family in Wnt signaling pathway in colorectal cancer and its clinical significance
Heli LIU ; Yuan ZHOU ; Fengbo TAN ; Yinan WANG ; Haiping PEI
Journal of Central South University(Medical Sciences) 2017;42(5):501-506
Objective:To explore the expression of R-spondin family in colorectal cancer tissues and adjacent tissues,and to evaluate its relationship with clinic-pathological stage.Methods:A total of 64 samples of colorectal cancer tissues and adjacent tissues were collected from the patients,who received radical surgery in Xiangya Hospital,Central South University between January 2014 and August 2014.The mRNA and protein expression levels of R-spondin 1-4 and β-catenin in the colorectal cancer tissues and adjacent tissues were detected by qRT-PCR and immunohistochemistry.The relationship between the expression level of R-spondin 1-4 and the clinic-pathological factors were analyzed to explore the correlation between the expression level of R-spondin 1-4 and β-catenin in colorectal cancer.Results:Compared with the adjacent tissues,the mRNA and protein expression levels of R-spondin 1 were elevated in the colorectal cancer tissues (P<0.05).The mRNA and protein expression levels of R-spondin 2-4 were increased in the colorectal cancer tissues than those in the normal tissues (P<0.05),but there was no significant difference between the colorectal cancer tissues and adjacent tissues (P>0.05).The expression level of R-spondin i was positively correlated with the nuclear expression of β-catenin in the colorectal cancer tissues (r=0.6307,P<0.05).Conclusion:Compared with the adjacent tissues,the mRNA and protein expression levels of R-spondin 1 are significantly elevated in the colorectal cancer tissues.R-spondin 1 may play a role in promoting carcinogenesis by regulating the activity of β-catenin in the downstream of Wnt signaling pathway.

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