Case report: administration of immune checkpoint inhibitor for SMARCB1 (INI1)-negative rhabdoid carcinoma with microsatellite instability (MSI)-high in the right colon.
Case report: administration of immune checkpoint inhibitor for SMARCB1 (INI1)-negative rhabdoid carcinoma with microsatellite instability (MSI)-high in the right colon.
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DOI：
10.1186/s40792-023-01594-y
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发表时间：
2023-02-03
影响因子：
0.8
通讯作者：
中科院分区：
文献类型：
--
作者：
具有横纹肌样特征的恶性肿瘤是罕见的，具有高度侵袭性，其中一些肿瘤以SMARCB1 （INI1）丢失为特征。虽然横纹肌样癌的病例极为罕见，但它在结肠中的发生已有报道。一位71岁的日本女性患者表现为食欲不振、疲劳和体重减轻。计算机断层扫描显示右结肠肿瘤浸润周围肾脏，左侧锁骨上和主动脉周围淋巴结肿大。剖腹探查发现肿瘤已直接侵犯胰头及十二指肠，无法切除。因此，我们对回盲带血管化的大淋巴结进行取样，并采用Braun吻合法和回肠横断造口术作为姑息性手术。淋巴结的组织病理学检查显示肿瘤细胞具有丰富的嗜酸性细胞质和横纹肌样癌特有的偏心大核。此外，这些肿瘤细胞缺乏SMARCB1的表达；因此，患者被诊断为smarcb1阴性横纹肌样癌。术后过程平淡无奇。分子分析证实肿瘤细胞具有较高的微卫星不稳定性（MSI）；因此，给予两个周期的派姆单抗。然而，没有临床获益，患者在术后3个月死亡。这是首例使用派姆单抗治疗的smarcb1阴性横纹肌样结肠癌高MSI病例。横纹肌样癌具有高度侵袭性；因此，需要进一步的研究来确定smarcb1阴性横纹肌样结直肠癌的治疗策略。
Malignant tumors with rhabdoid features are rare, highly aggressive, and some of them are characterized by SMARCB1 (INI1) loss. Although cases of rhabdoid carcinoma are extremely rare, its occurrence in the colon has been reported previously. A 71-year-old Japanese female patient presented with loss of appetite, fatigue, and weight loss. Computed tomography demonstrated a tumor in the right colon that infiltrated the surrounding kidneys and swelling of the left supraclavicular and periaortic lymph nodes. Laparotomy revealed that the tumor was unresectable because it had directly invaded the head of the pancreas and duodenum. Therefore, ileocecal vascularized bulky lymph nodes were sampled, and gastrojejunostomy with Braun’s anastomosis and ileotransversostomy were performed as palliative procedures. Histopathological examination of the lymph nodes revealed that the neoplastic cells had rich eosinophilic cytoplasm and eccentrically located large nuclei characteristic of rhabdoid carcinoma. In addition, these neoplastic cells lacked SMARCB1 expression; therefore, the patient was diagnosed with SMARCB1-negative rhabdoid carcinoma. The postoperative course was uneventful. Molecular analysis confirmed that the neoplastic cells had high microsatellite instability (MSI); therefore, two cycles of pembrolizumab were administered. However, no clinical benefit was noted, and the patient died 3 months postoperatively. This is the first report of a case of SMARCB1-negative rhabdoid colon carcinoma with high MSI treated with pembrolizumab. Rhabdoid carcinoma is highly aggressive; therefore, additional studies are required to determine the therapeutic strategy for SMARCB1-negative rhabdoid colorectal carcinoma.
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影响因子：
0.8
作者：
Kojima M;Miyake T;Ueki T;Ohta H;Kushima R;Shiohara M;Mizuta H;Iida H;Yamaguchi T;Kaida S;Takebayashi K;Maehira H;Nishina Y;Shimizu T;Mekata E;Tani M
通讯作者：
Tani M
哺乳动物SWI/SNF复合物的蛋白质组学和生物信息学分析确定了在人类恶性肿瘤中的广泛作用。
影响因子：
30.8
作者：
Kadoch, Cigall;Hargreaves, Diana C.;Hodges, Courtney;Elias, Laura;Ho, Lena;Ranish, Jeff;Crabtree, Gerald R.
通讯作者：
Crabtree, Gerald R.
影响因子：
1
作者：
D'Amico F;Bertacco A;Cesari M;Mescoli C;Caturegli G;Gondolesi G;Cillo U
通讯作者：
Cillo U
影响因子：
8.8
作者：
Jenkins RW;Barbie DA;Flaherty KT
通讯作者：
Flaherty KT
影响因子：
51.1
作者：
Gounder, Mrinal;Schoffski, Patrick;Stacchiotti, Silvia
通讯作者：
Stacchiotti, Silvia