先天性梭形细胞/硬化性横纹肌肉瘤临床病理学分析  

Congenital spindle cell/sclerosing rhabdomyosarcoma:a clinicopathological analysis

作　　者：徐佳童 伏利兵[1] 姚兴凤[1] 贾超 管晓星 张朦 何乐健[1] Xu Jiatong;Fu Libing;Yao Xingfeng;Jia Chao;Guan Xiaoxing;Zhang Meng;He Lejian(Department of Pathology,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院病理科,北京100045

出　　处：《中华病理学杂志》2024年第4期344-350,共7页Chinese Journal of Pathology

摘　　要：目的探讨先天性梭形细胞/硬化性横纹肌肉瘤的临床病理学特征。方法收集首都医科大学附属北京儿童医院2017年4月至2022年1月诊断的先天性梭形细胞/硬化性横纹肌肉瘤16例(包括会诊病例10例),分析其组织形态学特点、免疫表型及分子遗传学特征。结果16例患儿中,男患儿9例,女患儿7例;5例于母孕产期发现,11例于出生后即发现,肿物分别位于胸壁、腰背部、腹膜后、四肢及会阴部。肿瘤由束状排列的梭形细胞构成,局部间质硬化并玻璃样变性,免疫组织化学显示肿瘤细胞不同程度表达结蛋白、Myogenin、MyoD1、平滑肌肌动蛋白、CD56及间变性淋巴瘤激酶,其他标志物CD34、CD99、pan-TRK、S-100蛋白、BCOR等均不表达。11例行NCOA2(8q13)及VGLL2(6q22)基因断裂探针检测,提示4例(4/11)染色体NCOA2(8q13)存在断裂易位;6例测序病例中,1例(1/6)检测到MYOD1基因p.L122R位点杂合突变;2例行电镜检测,镜下见束状排列肌丝,部分有原始肌节形成。5例经单纯性手术切除,2例活检后仅随诊观察,9例术后予化疗。有效随访12例,2例术后复发,2例带瘤生存。结论先天性梭形细胞/硬化性横纹肌肉瘤是先天性横纹肌肉瘤的罕见亚型,好发于婴儿的胸背部及下肢,NCOA2/VGLL2基因融合改变可能是其最常见的遗传学改变,相比横纹肌肉瘤的其他亚型及同亚型的青少年、成人患者预后较好,分析总结其临床病理学特征有助于与其他婴幼儿软组织肿瘤相鉴别及精准治疗。Objective To investigate the clinicopathological features,immunophenotype and molecular genetic characteristics of congenital spindle cell/sclerosing rhabdomyosarcoma.Methods Sixteen cases(including 10 consultation cases)of congenital spindle cell/sclerosing rhabdomyosarcoma diagnosed at the Beijing Children′s Hospital,Capital Medical University,Beijing China,from April 2017 to January 2022 were collected.These cases were evaluated for clinical profiles,histomorphological features,immunophenotype and molecular characteristics.Results Among the 16 patients,9 were male and 7 were female.Five cases were present during maternal pregnancy and 11 cases were found immediately after birth.The tumors were located in the chest wall,low back,retroperitoneum,extremities or perineum.The tumors consisted of fasciculated spindle-shaped cells with localized mesenchymal sclerosis and vitreous metaplasia.Immunohistochemistry showed that the tumor cells expressed Desmin,Myogenin,MyoD1,SMA,CD56 and ALK to varying degrees,but not other markers such as CD34,CD99,pan-TRK,S-100 and BCOR.FISH analyses with NCOA2(8q13)and VGLL2(6q22)gene breakage probes revealed a breakage translocation in chromosome NCOA2(8q13)in 4 cases(4/11).In the 6 cases subject to sequencing,a mutation at the p.L122R locus of MYOD1 gene was detected in 1 case(1/6).Two cases were examined by electron microscopy,which showed bundle-arranged myofilaments with some primitive myofilament formation.Five cases were resected with simple surgery,2 cases were biopsied and followed up with observation only,and 9 cases were treated with surgery and adjuvant chemotherapy.Follow-up was available in 12 cases.At the end of the follow-up,2 of the 12 patients developed local recurrences and 2 patients survived with disease.Conclusions Congenital spindle cell/sclerosing rhabdomyosarcoma is a rare subtype of congenital rhabdomyosarcoma.It more commonly occurs in the chest,back and lower limbs of infants than other sites.NCOA2/VGLL2 gene fusion seems to be the most common genetic chan

关 键 词：软组织肿瘤 免疫组织化学 基因 

分 类 号：R738.6[医药卫生—肿瘤]