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表2 胰腺/壶腹部SWI/SNF复合物缺失性癌的分子特征（NGS检测）
Table 2 Molecular characteristics of SWI/SNF deficient carcinoma in the pancreas/ampulla（NGS detection）（n=16）

SWI/SNF⁃related KRAS gene TP53 gene
Case no. BRG1（IHC） INI1（IHC） MSI Other gene alterations
gene alteration alteration alteration
16 Intact Reduced SMARCB1 lost Exon 2 MM Exon 2 NM MSS NA
17 Intact Partially lost SMARCB1 lost Exon 2 MM Exon 8 MM MSS CDKN2A
18 Intact Partially lost SMARCB1 lost Exon 2 MM Exon 5 MM MSS CDKN2A，MYC
19 Intact Intact SMARCB1 lost Exon 3 MM Exon 4 MM MSS MYC
20 Intact Intact SMARCB1 lost Exon 2 MM Exon 8 MM MSS SMAD4
21 Intact Reduced SMARCB1 lost Exon 3 MM Exon 8 MM MSS CDKN2A
22 Intact Reduced SMARCB1 lost Exon 2 MM Exon 4 NM MSS SMAD4

23 Intact Reduced SMARCB1 lost Exon 2 MM Exon 8 MM MSS TGFBR2
24 Intact Intact SMARCA4 MM Exon 3 MM Exon 5 MM MSS CDKN2A，SMAD4
25 Intact Intact SMARCB1 lost Exon 2 MM NA MSS NA
26 Intact Intact SMARCA4 MM Exon 2 MM Exon 8 NM MSS NA
27 Intact Reduced SMARCB1 lost Exon 2 MM Exon 8 MM MSS AMER1，CDK6
28 Intact Reduced SMARCB1 lost Exon 2 MM Exon 7 MM MSS BRCA1，CDKN2A
29 Intact Intact SMARCB1 lost Exon 2 MM NA MSS U2AF1，SMAD4

30 Intact Intact SMARCB1 lost Exon 3 IM Exon 6 NM MSS NA
31 Intact Intact SMARCB1 lost Exon 2 MM Exon 7 MM MSS NA
MM：missense mutation；NM：nonsense mutation；IM：in⁃frame insertion mutation；MSI：microsatellite instability；MSS：microsatel⁃
lite stable；NA：not assessable.

A B C

D E F
A：Complete loss of BRG1 expression in tumor cells. B：Focal loss of BRG1 expression in tumor cells. C：Retained expression of INI1 in tumor
cells. D：Sporadic CK⁃pan positive in tumor cells. E：Moderate syn positive in some tumor cells. F：Loss of PMS2 expression in tumor cells.
图2 消化系统SWI/SNF复合物缺失性癌免疫表型（免疫组织化学染色，×200）
Figure 2 Immunophenotype of SWI/SNF complex deficient carcinoma in digestive system（immunohistochemical staining，
×200）

［16-17］
缺失或表达减弱。既往研究发现，SWI/SNF 复合物 失表达、表达减弱和异质性表达（局灶缺失） 。
缺失的免疫组化染色具有 3 种表达模式：完全丢 Huang 等 ［16］ 认为 SMARCA4 的缺失与胃癌的组织学