SMARCA4-deficient undifferentiated carcinoma of the gastrointestinal tract: a clinicopathological and immunohistochemical study of nine cases.
10.3760/cma.j.cn112151-20220226-00130
- Author:
Pei Pei ZHU
1
;
Xin Xing LI
2
;
Jia Han LIU
3
;
Xiu Luan DU
4
;
Hai Yan SU
5
;
Jian WANG
3
Author Information
1. Department of Pathology, Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, China.
2. Department of General Surgery, Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, China.
3. Department of Pathology, Fudan University, Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Shanghai 200032, China.
4. Department of Pathology, the Affiliated Suzhou Science and Technology Town Hospital of Nanjing Medical University, Suzhou 215153, China.
5. Department of Pathology, Zhangzhou Municipal Hospital of Fujian Medical University, Zhangzhou 363000, China.
- Publication Type:Journal Article
- MeSH:
Biomarkers, Tumor/genetics*;
Carcinoma/pathology*;
China;
DNA Helicases;
Female;
Gastrointestinal Tract/pathology*;
Humans;
Keratins;
Male;
Nuclear Proteins;
Retrospective Studies;
Transcription Factors
- From:
Chinese Journal of Pathology
2022;51(9):868-874
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To investigate the clinicopathological features, immunophenotype and differential diagnoses of SMARCA4-deificient undifferentiated carcinoma (SMARCA4-DUC) of the gastrointestinal tract. Methods: The clinicopathological data and immunohistochemical profiles of nine cases of SMARCA4-DUC of the gastrointestinal tract diagnosed in Fudan University Shanghai Cancer Center, from 2018 to 2021, were analyzed retrospectively. The relevant literature was reviewed. Results: There were seven males and two females with age at presentation ranging from 39 to 74 years (mean 58 years, median 64 years). The tumor occurred in the stomach (6 cases), right hemicolon (2 cases) and duodenum (1 case). The main symptoms included dysphagia, abdominal pain, diarrhea and melena. Five cases were resected, and the tumor sizes ranged from 5.0 to 8.7 cm (mean 6.7 cm). Microscopically, the tumor was composed of sheets of undifferentiated round to epithelioid cells with large vesicular nuclei harboring prominent nucleoli and displaying brisk mitotic activity. Foci of dyscohesive rhabdoid cells were also noted. The tumor cells were generally uniform; however, prominent pleomorphism and spindle cell component was present in one case each. Five cases contained areas of coagulative necrosis, and one case showed myxoid change of the stroma. By immunohistochemistry, eight cases showed complete loss of BRG1 (SMARCA4) and BRM (SMARCA2) expression. Whereas the expression of these two markers was lost in the epithelioid component of one case, it remained in the spindle cell component (mosaic pattern). Apart from one case with partial expression of pan-cytokeratin, all other eight cases showed either limited (<5%, n=5) or totally negative (n=3) staining of pan-cytokeratin. In addition, four cases also expressed CD34, SOX2 and SALL4. Six patients had follow-up data: four died of disease within 1 year. Conclusions: SMARCA4-DUC of the gastrointestinal tract represents a highly aggressive malignancy with poor outcome. Due to lack of cell-specific differentiation, it is not uncommonly misdiagnosed as a wide variety of poorly-differentiated or undifferentiated tumors. Increased recognition of this rare but distinctive entity not only facilitates the diagnosis and differential diagnosis, but also provides important therapeutic and prognostic information for the clinicians.
