SMARCA4-deficient rectal carcinoma with a sarcomatoid component: a case report

被引：2

作者：

Meda, Yuki ^{[1
]}

Miyake, Hideo ^{[1
]}

Nagai, Hidemasa ^{[1
]}

Yoshioka, Yuichiro ^{[1
]}

Yuasa, Norihiro ^{[1
]}

Kiriyama, Ayami ^{[2
]}

Fujino, Masahiko ^{[2
]}

机构：

[1] Nagoya Daiichi Hosp, Japanese Red Cross Aichi Med Ctr, Dept Gastrointestinal Surg, Nakamura Ku, 3-35 Michishita Cho, Nagoya, Aichi 4538511, Japan

[2] Nagoya Daiichi Hosp, Japanese Red Cross Aichi Med Ctr, Dept Pathol, Nakamura Ku, 3-35 Michishita Cho, Nagoya, Aichi 4538511, Japan

来源：

CLINICAL JOURNAL OF GASTROENTEROLOGY | 2022年 / 15卷 / 02期

关键词：

Carcinosarcoma; Colorectum; SMARCA4-deficient tumor; Sarcomatoid component; CELL CARCINOMA; LUNG-CANCER; MOLECULAR CHARACTERIZATION; RECTOSIGMOID COLON; SWI/SNF COMPLEX; CARCINOSARCOMA; SMARCA4; DEFICIENCY; PHENOTYPE; SPINDLE;

D O I：

10.1007/s12328-022-01602-y

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

A new classification of SMARCA4-deficient tumors was proposed recently for thoracic malignancies, and the tumors have some histopathological characteristics similar to those of carcinosarcoma. We encountered a case of SMARCA4-deficient rectal carcinoma with a sarcomatoid component. A 46-year-old man presented to our hospital with a prolapsing anal mass. Colonoscopy revealed an irregular, nodular, and elevated lesion in the rectum, and the biopsy revealed a moderately differentiated adenocarcinoma. Abdominoperineal resection of the rectum was performed. A macroscopic image of the resected specimen showed a complex tumor 3.5 cm x 3 cm in size with a papillary protrusion and an irregular ulcerative lesion. Histopathological examination revealed that the tumor was composed of moderately/poorly differentiated adenocarcinoma and atypical spindle cells. The adenocarcinoma component was positive for epithelial markers (AE1/AE3 and carcinoembryonic antigen) and showed deletion of SMARCA2 and SMARCA4, while the spindle cells expressed mesenchymal markers (alpha-smooth muscle actin and vimentin). The pathological diagnosis was poorly differentiated adenocarcinoma with a sarcomatoid component, pT3N2bM0, stage IIIc. Although our case had histological characteristics of carcinosarcoma, immunostaining revealed a deficiency of SMARCA4. This case presented a SMARCA4-deficient colorectal carcinoma with a sarcomatoid component, which was histopathologically similar to carcinosarcoma.

引用

页码：419 / 426

页数：8

共 55 条

[1] SWI/SNF Complex-deficient Undifferentiated/Rhabdoid Carcinomas of the Gastrointestinal Tract A Series of 13 Cases Highlighting Mutually Exclusive Loss of SMARCA4 and SMARCA2 and Frequent Co-inactivation of SMARCB1 and SMARCA2 [J].