间变性淋巴瘤激酶
纤维肉瘤
病理
免疫组织化学
生物
川地34
PDGFRA公司
受体蛋白酪氨酸激酶
受体酪氨酸激酶
肉瘤
组织微阵列
间变性大细胞淋巴瘤
淋巴瘤
医学
激酶
主旨
间质细胞
恶性胸腔积液
肺癌
细胞生物学
遗传学
干细胞
作者
Serena Y. Tan,Alyaa Al‐Ibraheemi,Wolfgang Ahrens,Javier Oesterheld,Julie C. Fanburg‐Smith,Yajuan J. Liu,Sheri L. Spunt,Erin R. Rudzinski,Cheryl M. Coffin,Jessica L. Davis
摘要
Recurrent alterations in receptor tyrosine kinase (RTK) and downstream effectors are described in infantile fibrosarcoma (IFS)/cellular congenital mesoblastic nephroma (cCMN) and a subset of spindle cell sarcomas, provisionally designated 'NTRK-rearranged' spindle cell neoplasms. These two groups of tumours demonstrate overlapping morphologies and harbour alterations in NTRK1/2/3, RET, MET, ABL1, ROS1, RAF1 and BRAF, although their relationship is not fully elucidated. We describe herein a cohort of paediatric tumours with clinicopathological features not typical for inflammatory myofibroblastic tumour, but rather with similarities to cCMN/IFS harbouring ALK fusions.Clinicopathological features were assessed and partner agnostic targeted RNA sequencing on clinically validated platforms were performed. Tumours occurred in patients aged from 2 to 10 years (median age 2 years) with a 2:2 male to female ratio and an average size of 8.4 cm. Two tumours arose in soft tissues and two in the kidney. Morphological features included spindle to ovoid cells arranged in long fascicles or haphazardly within a myxoid to collagenised stroma; a subset of cases had either dilated, ectatic vessels or focal perivascular hyalinosis. By immunohistochemistry, all cases tested showed cytoplasmic expression of anaplastic lymphoma kinase (ALK) and one case demonstrated co-expression of CD34 and S100.This series of ALK-rearranged IFS-like tumours expands the spectrum of targetable kinases altered in these tumours and reinforces the potential overlap between IFS/cCMN-like tumours and the provisional entity of 'NTRK-rearranged' spindle cell neoplasms.
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