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中华临床医师杂志(电子版) ›› 2024, Vol. 18 ›› Issue (04) : 420 -422. doi: 10.3877/cma.j.issn.1674-0785.2024.04.016

病例报告

罕见直肠SMARCA4缺失型肿瘤一例
申慧1, 胡旭华1, 周超熙2, 郭甘霖2, 王贵英1,()   
  1. 1. 050000 石家庄,河北医科大学第二医院普外科;050001 石家庄,河北医科大学第四医院外二科;050000 石家庄,河北省消化道肿瘤病因溯源和个体化诊疗重点实验室
    2. 050001 石家庄,河北医科大学第四医院外二科
  • 收稿日期:2024-01-25 出版日期:2024-04-15
  • 通信作者: 王贵英

A rare case of SMARCA4-deficient rectal tumor

Hui Shen, Xuhua Hu, Chaoxi Zhou   

  • Received:2024-01-25 Published:2024-04-15
引用本文:

申慧, 胡旭华, 周超熙, 郭甘霖, 王贵英. 罕见直肠SMARCA4缺失型肿瘤一例[J]. 中华临床医师杂志(电子版), 2024, 18(04): 420-422.

Hui Shen, Xuhua Hu, Chaoxi Zhou. A rare case of SMARCA4-deficient rectal tumor[J]. Chinese Journal of Clinicians(Electronic Edition), 2024, 18(04): 420-422.

患者,男性,54岁,主因“大便次数增多伴大便带血1月余”于2022年2月11日就诊河北医科大学第四医院。患者就诊前1月无诱因出现大便次数增多伴大便带血,约10次/日,大便多为暗红色、不成形。无恶心、呕吐、腹胀等不适。就诊前3天外院查电子结肠镜显示:距肛门口10~18 cm见不规则粘膜隆起,环1/2周。既往无特殊疾病病史。患者吸烟史30余年,约5支每天,未戒烟。婚育史、家族史无特殊,体格检查无异常。入院完善相关检验检查,肿瘤标记物无异常。腹部增强CT显示:直肠壁增厚,考虑恶性;直肠上动脉周围多发增大淋巴结()。我院会诊病理提示:低分化癌。

图1 患者CT及术后病理图片。图a为2022年2月16日腹部增强CT显示:直肠壁增厚,考虑恶性;图b为镜下可见大量横纹肌细胞,HE染色低倍放大;图c为镜下可见大量坏死细胞,HE染色低倍放大;图d为镜下可见细胞核明显,核仁偏心,HE染色高倍放大;图e为免疫组化可见SMARCA4(BRG1)失表达EnVision法中倍放大;图f为免疫组化可见Ki67(阳性细胞80%)EnVision法中倍放大;图g为免疫组化可见Syn(+)EnVision法中倍放大;图h为2023年11月1日腹部增强CT:直肠术后改变,未见复发转移灶
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