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SMARCA4-deficient rectal carcinoma with a sarcomatoid component: a case report
Yuki Meda1, Hideo Miyake1, Hidemasa Nagai1
1Department of Gastrointestinal Surgery, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, 3-35 Michishita-cho, Nakamura-ku, Nagoya, 453-8511, Japan.
Clinical Journal of Gastroenterology
|February 7, 2022
Summary
A rare case of SMARCA4-deficient rectal carcinoma with a sarcomatoid component, mimicking carcinosarcoma, was identified. This finding expands the understanding of SMARCA4-deficient tumors in colorectal cancer.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- A recent classification proposed SMARCA4-deficient tumors in thoracic malignancies, noting similarities to carcinosarcoma.
- SMARCA4-deficient tumors are increasingly recognized across various cancer types.
Observation:
- A 46-year-old male presented with a rectal mass.
- Initial biopsy showed moderately differentiated adenocarcinoma.
- Resected specimen revealed a complex tumor with adenocarcinoma and atypical spindle cells.
Findings:
- The tumor exhibited both adenocarcinoma and sarcomatoid components.
- Immunohistochemistry confirmed SMARCA4 deficiency in the adenocarcinoma cells.
- Spindle cells expressed mesenchymal markers, while adenocarcinoma cells expressed epithelial markers.
Implications:
- This case represents a SMARCA4-deficient colorectal carcinoma with a sarcomatoid component.
- The histological features resemble carcinosarcoma, highlighting diagnostic challenges.
- This finding contributes to the characterization of SMARCA4-deficient neoplasms in the colorectum.
