SMARCB1/INI1缺失型未分化胰腺癌1例报告及文献复习

doi:10.13481/j.1671-587X.20260225

摘要/Abstract

摘要：

酵母交配型转换/蔗糖不发酵（SWI/SNF）相关基质关联肌动蛋白依赖性染色质亚家族B成员1（SMARCB1）/整合酶相互作用分子1（INI1）（SMARCB1/INI1）缺失型未分化胰腺癌（UPC）是一种极为罕见的胰腺癌特殊类型。本文作者报道1例SMARCB1/INI1缺失型UPC患者的临床表现、辅助检查和诊治经过，并进行相关文献复习。患者，女性，65岁，因间断性上腹痛1个月余，加重伴恶心、呕吐9 d入院。曾于外院行全腹部CT提示胰腺占位性病变。入院查体显示上腹部压痛，无反跳痛或肌紧张。实验室检查，糖类抗原199（CA199）水平为50.58 U·mL^-1，空腹血糖为9.98 mmol·L^-1。腹部MRI显示胰腺体尾部见囊实混合异常信号影，呈不规则向胰腺外隆起；T1加权成像（T1WI）呈稍低信号，瘤体出血部分呈高信号；T2加权成像（T2WI）呈高信号，边界不清，大小为2.0~5.6 cm，致胃壁受压、受侵；增强扫描示肿瘤囊壁呈明显环形强化，脾动脉和静脉受侵，门静脉栓子形成。胃镜见胃体大弯侧有4.0 cm×5.0 cm的黏膜隆起，考虑胰腺占位压迫所致。临床诊断为胰腺占位性病变，恶性肿瘤可能性大，手术切除为首选治疗方案。术后病理诊断为SMARCB1/INI1缺失型UPC，伴少量中分化鳞状细胞癌成分。患者术后接受化疗，已随访5个月，生活质量较术前改善，无明显不适，仍在密切随访中。SMARCB1/INI1缺失型UPC较为罕见，临床表现缺乏特异性，通常进展迅速且预后不良，临床中应争取尽早诊治。

关键词: 胰腺肿瘤, SMARCB1/INI1缺失型, 未分化肿瘤, 影像学表现, 病例报告

Abstract:

Switch/sucrose non-fermentable （SWI/SNF）-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 （SMARCB1）/integrase interactor 1 （INI1）（SMARCB1/INI1）-deficient undifferentiated pancreatic carcinoma （UPC） is an extremely rare special type of pancreatic cancer. This article reported the clinical manifestations， auxiliary examinations， diagnosis， and treatment of a patient with SMARCB1/INI1-deficient UPC， and reviewed the relevant literature. The patient， a 65-year-old female， was admitted due to intermittent upper abdominal pain for more than one month， aggravated with nausea and vomiting for 9 d. The abdominal CT scan performed at another hospital suggested a pancreatic space-occupying lesion. The physical examination results on admission revealed upper abdominal tenderness， without rebound tenderness or muscle guarding. The laboratory tests results showed a carbohydrate antigen 199 （CA199） level of 50.58 U·mL^-1 and a fasting blood glucose level of 9.98 mmol·L^-1. The abdominal MRI results revealed a mixed cystic and solid abnormal signal in the pancreatic body and tail， showing irregular extraluminal protrusion； it appeared as a slightly hypointense signal on T1-weighted imaging （T1WI）， with the hemorrhagic part of the tumor appearing hyperintense； it appeared as a hyperintense signal on T2-weighted imaging （T2WI） with unclear boundaries， measuring 2.0-5.6 cm， causing compression and invasion of the gastric wall； enhanced scanning showed obvious rim enhancement of the tumor capsule， invasion of the splenic artery and vein， and portal vein thrombus formation. The gastroscope results revealed a 4.0 cm×5.0 cm mucosal elevation on the greater curvature of the gastric body， considered to be caused by compression from the pancreatic mass. The clinical diagnosis was a pancreatic space-occupying lesion， highly suspected to be malignant， with surgical resection being the preferred treatment option. The postoperative pathological diagnosis was SMARCB1/INI1-deficient UPC with a small component of moderately differentiated squamous cell carcinoma. The patient received chemotherapy after surgery and has been followed up for 5 months， with an improved quality of life compared to before surgery， no significant discomfort， and remains under close follow-up. SMARCB1/INI1-deficient UPC is relatively rare， with non?specific clinical manifestations， usually progressing rapidly and associated with a poor prognosis； therefore， early diagnosis and treatment should be pursued in clinical practice.

Key words: Pancreatic neoplasm, SMARCB1/INI1 deficiency, Undifferentiated carcinoma, Imaging manifestation, Case report

中图分类号:

R735.9

周中伟,杜伟,宁宇,于晶,郭峰有,杨学良. SMARCB1/INI1缺失型未分化胰腺癌1例报告及文献复习[J]. 吉林大学学报(医学版), 2026, 52(2): 523-529.

Zhongwei ZHOU,Wei DU,Yu NING,Jing YU,Fengyou GUO,Xueliang YANG. SMARCB1/INI1-deficient undifferentiated pancreatic carcinoma: A case report and literature review[J]. Journal of Jilin University(Medicine Edition), 2026, 52(2): 523-529.

图/表 5

图1

图2

图3

图4

图5

参考文献 29

[1]	NISHIHARA K， KATSUMOTO F， KUROKAWA Y， et al. Anaplastic carcinoma showing rhabdoid features combined with mucinous cystadenocarcinoma of the pancreas［J］. Arch Pathol Lab Med， 1997， 121（10）： 1104-1107.
[2]	IMAOKA H， IKEDA M， UMEMOTO K， et al. Comprehensive review of undifferentiated carcinoma of the pancreas： from epidemiology to treatment［J］. Jpn J Clin Oncol， 2023， 53（9）： 764-773.
[3]	钱波，李杨，徐敏. 胰腺未分化癌1例报道并文献复习［J］. 胃肠病学和肝病学杂志， 2018， 27（11）： 1317-1320.
[4]	李皇保，周俊，吴晓俊，等. 胰腺癌病理类型：基于美国SEER数据库的分析［J］. 中华肝胆外科杂志， 2018， 24（4）： 258-262.
[5]	IMAOKA H， IKEDA M， MAEHARA K， et al. Risk stratification and prognostic factors in patients with unresectable undifferentiated carcinoma of the pancreas［J］. Pancreatology， 2021， 21（4）： 738-745.
[6]	KIM K H， ROBERTS C W M. Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth［J］. Cancer Genet， 2014， 207（9）： 365-372.
[7]	MA Y Y， FENG J Y， DING D， et al. SMARCB1/INI1-deficient undifferentiated pancreatic carcinoma in a 13-year-old male patient： a case report［J］. Pediatr Blood Cancer， 2023， 70（3）： e30038.
[8]	KOUCHI Y， SAKAI N， HARADA-KAGITANI S， et al. SMARCB1-deficient malignant neoplasm of the pancreas with heterogeneous morphologies that cannot be classified into existing histologic types［J］. Pathol Int， 2024， 74（12）： 691-696.
[9]	MUGAANYI J， LU C J， LU C D， et al. Extended pancreato-duodenectomy coupled with adjuvant chemotherapy for SMARCB1/INI1 deficient pancreatic carcinoma： A case report and literature review［J］. Int J Surg Case Rep， 2021， 82： 105938.
[10]	AGAIMY A， HALLER F， FROHNAUER J， et al. Pancreatic undifferentiated rhabdoid carcinoma： KRAS alterations and SMARCB1 expression status define two subtypes［J］. Mod Pathol， 2015， 28（2）： 248-260.
[11]	HUA Y N， SONI P， LARSEN D， et al. SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma mimicking solid pseudopapillary neoplasm： a case report and review of the literature［J］. World J Gastroenterol， 2020， 26（36）： 5520-5526.
[12]	LAND G， VAN HAERINGEN B， COOPER C， et al. A rare case of rhabdoid pancreatic carcinoma： prolonged disease-free survival following upfront resection and adjuvant chemotherapy［J］. Cureus， 2023， 15（12）： e50145.
[13]	刘继煊，李言言，徐嘉雯. 胰腺“去分化”导管腺癌1例［J］. 临床与实验病理学杂志， 2024， 40（6）： 669-671.
[14]	CHO Y M， CHOI J， LEE O J， et al. SMARCB1/INI1 missense mutation in mucinous carcinoma with rhabdoid features［J］. Pathol Int， 2006， 56（11）： 702-706.
[15]	KAN M， KOUCHI Y， OHYAMA H， et al. Genomic analysis of undifferentiated carcinoma of the pancreas with squamous differentiation： A case report［J］. Cureus， 2024， 16（2）： e55175.
[16]	AL-SHEHRI A， SILVERMAN S， KING K M. Squamous cell carcinoma of the pancreas［J］. Curr Oncol， 2008， 15（6）： 293-297.
[17]	KRIDIS WBEN， KHANFIR A， TOUMI N， et al. Primary squamous cell carcinoma of the pancreas： a report of two cases and review of the literature［J］. Intern Med， 2015， 54（11）： 1357-1359.
[18]	KEZLARIAN B E， LIN O， DOGAN S. SMARCB1-deficient carcinomas of the head and neck region： a cytopathologic characterization［J］. J Am Soc Cytopathol， 2020， 9（6）： 494-501.
[19]	BRENCA M， ROSSI S， LORENZETTO E， et al. SMARCB1/INI1 genetic inactivation is responsible for tumorigenic properties of epithelioid sarcoma cell line VAESBJ［J］. Mol Cancer Ther， 2013， 12（6）： 1060-1072.
[20]	PANCIONE M， REMO A， ZANELLA C， et al. The chromatin remodelling component SMARCB1/INI1 influences the metastatic behavior of colorectal cancer through a gene signature mapping to chromosome 22［J］. J Transl Med， 2013， 11： 297.
[21]	KOHASHI K， ODA Y. Oncogenic roles of SMARCB1/INI1 and its deficient tumors［J］. Cancer Sci， 2017， 108（4）： 547-552.
[22]	DARR J， KLOCHENDLER A， ISAAC S， et al. Loss of IGFBP7 expression and persistent AKT activation contribute to SMARCB1/Snf5-mediated tumorigenesis［J］. Oncogene， 2014， 33（23）： 3024-3032.
[23]	MUGAANYI J， LU C J， HUANG J， et al. Undifferentiated pancreatic carcinomas， clinical features and therapeutic options： what we know［J］. Cancers， 2022， 14（24）： 6102.
[24]	ISHIGAMI K， NISHIE A， YAMAMOTO T， et al. Imaging features of undifferentiated carcinoma of the pancreas［J］. J Med Imaging Radiat Oncol， 2019， 63（5）： 580-588.
[25]	孙心竹，孙思予. 超声内镜在胰腺癌筛查中的作用［J］. 中国实用内科杂志， 2021， 41（5）： 358-361.
[26]	SWAID M B， VITALE E， ALATASSI N， et al. Metastatic undifferentiated osteoclast-like giant cell pancreatic carcinoma［J］. Cureus， 2022， 14（8）： e27586.
[27]	KING D A， RAHALKAR S， BINGHAM D B， et al. Pancreatic INI1-deficient undifferentiated rhabdoid carcinoma achieves complete clinical response on gemcitabine and nab-paclitaxel following immediate progression on FOLFIRINOX： a case report［J］. J Gastrointest Oncol， 2021， 12（2）： 874-879.
[28]	LANZI C， ARRIGHETTI N， PASQUALI S， et al. Targeting EZH2 in SMARCB1-deficient sarcomas： Advances and opportunities to potentiate the efficacy of EZH2 inhibitors［J］. Biochem Pharmacol， 2023， 215： 115727.
[29]	CARUGO A， MINELLI R， SAPIO L， et al. p53 is a master regulator of proteostasis in SMARCB1-deficient malignant rhabdoid tumors［J］. Cancer Cell， 2019， 35（2）： 204-220.e9.