Response to PD-1 inhibitor in SMARCB1‑deficient undifferentiated rectal carcinoma with low TMB, proficient MMR and BRAF V600E mutation: a case report and literature review

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作者
Wenjuan Shen
Yi Pan
Shuangmei Zou
机构
[1] National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital,Department of Pathology
[2] Chinese Academy of Medical Sciences and Peking Union Medical College,undefined
来源
Diagnostic Pathology | / 19卷
关键词
Response; PD-L1; SMARCB1; Rectal carcinoma; Case report;
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[1]  
Hollmann TJ(2011)INI1-deficient tumors: diagnostic features and molecular genetics Am J Surg Pathol 35 e47-63
[2]  
Hornick JL(2014)SWI/SNF chromatin remodeling complexes and cancer Am J Med Genet C: Semin Med Genet 166C 350-366
[3]  
Biegel JA(2021)SWI/SNF deficient central nervous system neoplasms Semin Diagn Pathol 38 167-174
[4]  
Busse TM(2020)Secondary INI1-deficient rhabdoid tumors of the central nervous system: analysis of four cases and literature review Virchows Arch 476 763-772
[5]  
Weissman BE(2007)Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium HUM PATHOL 38 935-939
[6]  
Cai C(2017)Clinical and immunologic correlates of response to PD-1 blockade in a patient with metastatic renal medullary carcinoma J Immunother Cancer 5 1-5
[7]  
Nobusawa S(2016)Loss of INI1 expression in colorectal carcinoma is associated with high tumor grade, poor survival, BRAFV600E mutation, and mismatch repair deficiency Hum Pathol 55 83-90
[8]  
Nakata S(2016)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 Am J Surg Pathol 40 544-553
[9]  
Donner LR(2022)SWI/SNF Complex-deficient Undifferentiated Carcinoma of the Gastrointestinal Tract Am J Surg Pathol. 46 889-906
[10]  
Wainwright LM(2022)Switch/sucrose-non-fermentable (SWI/SNF) complex (SMARCA4, SMARCA2, INI1/SMARCB1)-deficient colorectal carcinomas are strongly associated with microsatellite instability: an incidence study in 4508 colorectal carcinomas Histopathology 80 906-992