儿童和青少年腺泡状软组织肉瘤22例临床病理学特征

Clinicopathological characteristics of alveolar soft tissue sarcoma in children and adolescents

目的探讨儿童和青少年腺泡状软组织肉瘤(alveolar soft part sarcoma,ASPS)的临床病理学特征。方法回顾性分析2012年1月~2020年12月郑州大学第一附属医院收治的22例儿童和青少年ASPS的临床、影像学特征、组织病理学特征和预后情况。结果22例儿童和青少年ASPS中男性12例,女性10例,中位年龄11.4岁(范围1.4~18岁),中位肿瘤最大径为4.7 cm,原发肿瘤均位于肌内或筋膜下,以下肢多见。临床通常表现为无痛性增长的肿块。18例患者在增强CT或MR图像上均出现对比度增强。镜下见肿瘤细胞由薄壁窦隙样血管分割成巢状、腺泡状,部分病例呈实性、片状生长;肿瘤细胞胞质红染或透亮,胞核呈圆形、卵圆形,可见明显核仁,核分裂象少见,有血管内瘤栓。最显著的免疫组化和基因组学特征:TFE-3强阳性或基因断裂。22例患者平均随访时间44.7个月(5~108个月),其中8例带瘤生存,13例无瘤生存,1例死亡,5年生存率为95.2%。结论ASPS特征性的影像学、组织学和免疫表型特征有助于早期诊断和鉴别诊断;儿童和青少年APSP患者预后较好,5年生存率较高。

Purpose To explore the clinicopathological characteristics of alveolar soft tissue sarcoma(ASPS)in children and adolescents.Methods The clinical,imaging features,histopathological features and prognosis of 22 ASPS in children and adolescents treated at the First Affiliated Hospital of Zhengzhou University from January 2012 to December 2020 were retrospectively analyzed.Results In 22 children and adolescents with ASPS,12 were males and 10 were females,the median age was 11.4 years(range 1.4-18 years).The maximum diameter of the median tumor was 4.7 cm,and the primary tumor was intramuscular or subfascial,and the lower limbs were more common.Clinical symptoms usually present as painless growing masses.Eighteen patients showed contrast enhancement on either enhanced CT or MR images.Microscopically,the tumor cells were divided into nests and alveolar by thin-walled sinusoidal vessels,and some cases showed solid and sheet growth.Tumor cell cytoplasm was red or bright,and the nuclei were round or oval,with obvious nucleoli.Mitotic figures were not common,and endovascular tumor emboli could be seen.The most significant immunohistochemical and genomic features were strong TFE-3 positivity or gene breakage.The mean follow-up time of 22 patients was 44.7 months(5-108 months),of which eight patients survived with tumor,13 patients survived without tumor,and one patient died.The 5-year survival rate was 95.2%.Conclusion The imaging,histological and immunophenotypic features of ASPS are helpful for early diagnosis and differential diagnosis.Children and adolescents with APSP have a better prognosis and a higher 5-year survival rate.