Wang B, Zhang T, Liu H Y, Chen R R, Zhang X Y, Zhang H L, Zhai Z G, Zhong D R
Department of Pathology, China-Japan Friendship Hospital, Beijing 100029, China.
Geneplus-Beijing Ltd., Beijing 102206, China.
Zhonghua Bing Li Xue Za Zhi. 2021 Jan 8;50(1):38-43. doi: 10.3760/cma.j.cn112151-20200413-00313.
To describe the clinicopathological features of pulmonary artery intimal sarcoma (PAIS), and to understand its molecular alterations. Sixty cases of pulmonary artery endarterectomy performed at the China-Japan Friendship Hospital, Beijing, China from January 2017 to January 2020 were reviewed. Clinical data of 5 patients with pulmonary artery intimal sarcoma were collected. Hematoxylin-eosin staining, immunohistochemistry staining and fluorescence in situ hybridization (FISH) were performed to evaluate the pathological features. RNA sequencing was conducted to assess the fusion gene changes in PAIS. The detection rate of PAIS was 8.3% (5/60), with the median age of 49 years and a female predominance. Their clinical manifestations were non-specific. Histopathological examination showed that the tumors were composed of malignant spindle or epithelioid cells, with various degrees of atypia. Focal heterologous osteosarcomatous or leiomyosarcomatous differentiation was noted. The tumor cells could express PDGFRA, CDK4 and MDM2 with co-amplification of MDM2, CDK4 and EGFR genes. RNA sequencing detected multiple in-frame fusions in the tumors. PAIS is a rare, highly heterogeneous, and poorly-or un-differentiated sarcoma accompanied by complex changes of multiple genes.It has no known effective treatments, and thus has a poor prognosis.
描述肺动脉内膜肉瘤（PAIS）的临床病理特征，并了解其分子改变。回顾了2017年1月至2020年1月在中国北京中日友好医院进行的60例肺动脉内膜剥脱术病例。收集了5例肺动脉内膜肉瘤患者的临床资料。进行苏木精-伊红染色、免疫组织化学染色和荧光原位杂交（FISH）以评估病理特征。进行RNA测序以评估PAIS中的融合基因变化。PAIS的检出率为8.3%（5/60），中位年龄为49岁，女性居多。其临床表现无特异性。组织病理学检查显示，肿瘤由恶性梭形或上皮样细胞组成，具有不同程度的异型性。可见局灶性异源性骨肉瘤或平滑肌肉瘤分化。肿瘤细胞可表达PDGFRA、CDK4和MDM2，且MDM2、CDK4和EGFR基因共扩增。RNA测序在肿瘤中检测到多个读码框内融合。PAIS是一种罕见的、高度异质性的、低分化或未分化的肉瘤，伴有多个基因的复杂变化。它没有已知的有效治疗方法，因此预后较差。
