间变性淋巴瘤激酶
免疫组织化学
融合基因
免疫染色
基因重排
病理
trk受体
生物
荧光原位杂交
肉瘤
癌症研究
医学
基因
受体
神经生长因子
遗传学
恶性胸腔积液
肺癌
染色体
作者
Ana Cristina Vargas,Christopher Joy,Fiona Maclean,Fiona Bonar,Daniel Wong,Anthony J. Gill,Alison L. Cheah
标识
DOI:10.1136/jcp-2023-209225
摘要
Angiomatoid fibrous histiocytoma (AFH) is a soft tissue tumour of intermediate (rarely metastasising) malignant potential, which harbours EWSR1/FUS gene fusions. These tumours can express anaplastic lymphoma kinase (ALK) in the absence of gene rearrangement or copy number alteration and can also coexpresses Pan-TRK immunohistochemistry (IHC). All EWSR1/FUS -rearranged AFH were retrieved from the files of three institutions and Pan-TRK (EPR17341), ALK and BRAF V600E IHC were performed. Fourteen AFH cases were identified, which included three cases of intracranial mesenchymal tumours with FET-CREB fusions. PanTRK and ALK positive immunostaining was identified in 9 (64.2%) and 12 (85.7%) cases, respectively. No NTRK or ALK translocations or increased copy number/amplification were identified in all eight cases which had fluorescence in situ hybridisation and/or next generation sequencing for NTRK1-3 and ALK available for assessment. None of the cases expressed BRAF-V600E. Although our study is limited, our report is the first to document PanTRK expression in AFH in the absence of identifiable NTRK1-3 gene alterations.
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