首页|期刊导航|临床与实验病理学杂志|十二指肠幽门腺腺瘤10例临床病理及GNAS、KRAS分子特征分析

十二指肠幽门腺腺瘤10例临床病理及GNAS、KRAS分子特征分析OA

Duodenal pyloric gland adenoma:clinicopathological analysis and molecular char-acterization of GNAS and KRAS in 10 cases

中文摘要英文摘要

目的 探讨十二指肠幽门腺腺瘤(pyloric gland adenoma,PGA)的临床病理特征及分子遗传学特点.方法 收集经消化内镜或腹腔镜切除并确诊为十二指肠PGA的病例10例,分别进行MUC6、MUC5AC、MUC2、胃蛋白酶原I(Pepsinogen I)免疫组织化学染色,具有高级别上皮内瘤变的病例加做β-catenin和p53免疫染色,10例病例采用Sanger测序技术行GNAS和KRAS基因突变检测.结果 10例十二指肠PGA患者中男性8例,女性2例,平均年龄61岁(范围30~74岁).肿瘤最大径平均约2.0 cm(范围0.6~6.0 cm),其中1例经腹腔镜切除,9例经消化内镜下切除.肿瘤位于十二指肠球部及非球部各5例,病理诊断低级别上皮内瘤变8例,低级别上皮内瘤合并高级别上皮内瘤变2例.免疫组化染色结果提示纯幽门型5例,混合型5例,未发现小凹优势型,p53和β-catenin未见异常表达.分子检测结果显示,10例均未检测到KRAS突变,5例中1例检测发现GNAS第9外显子突变.结论 十二指肠PGA是一种罕见的十二指肠腺瘤亚型,相较于其他亚型具有较高的恶变风险,因此准确识别该肿瘤至关重要.目前治疗上以消化内镜下切除为主,但仍需进一步研究以明确其分子机制及优化诊疗策略.

Objective To investigate the clinicopathological characteristics and molecular genetic features of duodenal pyloric gland adenoma(PGA).Methods Ten cases of duodenal PGA confirmed by endoscopic or laparo-scopic resection were collected.Immunohistochemical staining for MUC6,MUC5AC,MUC2,and Pepsinogen I was performed.Additional β-catenin and p53 staining was conducted in cases with high-grade intraepithelial neoplasia.Sanger sequencing was employed to detect GNAS and KRAS gene mutations in all 10 cases.Results The cohort in-cluded 8 males and 2 females,with a mean age of 61 years(range 30-74 years).The average maximum tumor diam-eter was 2.0 cm(range 0.6-6.0 cm).One case underwent laparoscopic resection,while 9 were treated via endo-scopic resection.Tumors were equally distributed between the duodenal bulb and non-bulbar regions(5 cases each).Pathologically,8 cases exhibited low-grade intraepithelial neoplasia(LGIN),and 2 cases showed LGIN with focal high-grade intraepithelial neoplasia(HGIN).Immunohistochemistry revealed a pure pyloric phenotype in 5 cases and a mixed phenotype in 5 cases,with no foveolar-predominant pattern observed.Aberrant p53 or β-catenin expression was absent.Molecular analysis identified no KRAS mutations in 10 cases,while 1 of 5 tested cases harbored an exon 9 GNAS mutation.Conclusion Duodenal PGA is a rare adenoma subtype with a higher malignant potential compared to other variants,necessitating accurate recognition.Endoscopic resection remains the primary treatment,though fur-ther studies are warranted to elucidate its molecular mechanisms and optimize management strategies.

韦笑;李琳;孙琦;王朝珊;赵琳玥;李微

南京大学医学院附属鼓楼医院病理科,南京 210008南京大学医学院附属鼓楼医院病理科,南京 210008南京大学医学院附属鼓楼医院病理科,南京 210008南京大学医学院附属鼓楼医院病理科,南京 210008南京大学医学院附属鼓楼医院病理科,南京 210008南京大学医学院附属鼓楼医院病理科,南京 210008

医药卫生

幽门腺腺瘤十二指肠免疫组织化学分子遗传学

pyloric gland adenomaduodenumimmunohistochemistrymolecular genetics

《临床与实验病理学杂志》 2026 (1)

14-19,6

10.13315/j.cnki.cjcep.2026.01.003

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