摘要
丛状纤维黏液瘤(Plexiform Fibromyxoma,PF)为一种罕见的胃肠道间叶源性肿瘤,其病理学特点为:温和的梭形细胞,呈丛状生长,间质由纤维黏液基质与薄壁毛细血管构成;其分子改变包括GLI1相关基因改变或PTCH1基因缺失。本文报道1例胃PF的临床病理及免疫组化特点,并运用二代测序发现其存在SERINC5-CTSV和C2CD3-SMAD9基因融合,为提高人们对该罕见肿瘤临床病理和分子特征的认识提供新线索。
Plexiform Fibromyxoma(PF)is a rare neoplasm of mesenchymal origin that arises within the gastrointestinal tract.It is characterized histologically by the proliferation of mildly atypical spindle cells arranged in clusters,and the interstitium is composed of a fibromyxoid matrix and capillaries.Molecular investigations have revealed GLI1 gene alterations and PTCH1 gene deletions.This study presents a detailed account of the clinicopathological and immunohistochemical features of a gastric PF case.Notably,next-generation sequencing identified the presence of SERINC5-CTSV and C2CD3-SMAD9 gene fusions,thereby offering novel insights that enhance the understanding of both the clinicopathological and molecular characteristics of this rare tumor.
作者
黄亚鹏
邹泓
李锋
HUANG Yapeng;ZOU Hong;LI Feng(Department of Pathology,Shihezi University School of Medicine,Shihezi,Xinjiang 832008,China;Department of Pathology,the Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310009,China)
出处
《农垦医学》
2025年第3期277-280,285,共5页
Journal of Nongken Medicine
基金
国家自然科学基金(82173057)。
关键词
丛状纤维黏液瘤
病理特征
融合基因
Plexiform fibromyxoma
Pathological features
Fusion genes
