Samantha J. DeMarsh, Bradford Siegele, V. Zavaletta, A. Annam, Ann M. Kulungowski, Lauren R. Hill, Nathan Donaldson, Taizo A Nakano
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引用次数: 0
摘要
血管异常领域的诊断模式已从描述性诊断迅速转变为分子诊断,基于 DNA 的新一代测序已成为病变检查和定性的标准做法。在血管异常领域,基于 RNA 的融合转录本检测还较少使用。我们报告了一种复发性浸润性椎前血管瘤,已知体细胞变异阴性,但尤文肉瘤断点区 1::nuclear factor of activated T-cells cytoplasmic 2 融合转录本阳性。该病变具有中度恶性潜能,形态不典型、新型腔内内皮增生和不典型有丝分裂,以前从未报道过。基于 RNA 的融合转录本检测板可能是血管畸形和肿瘤分子特征描述的下一个重要发展方向。
Multidisciplinary Fusion: A recurrent expansive prevertebral vascular anomaly with EWSR1::NFATC2 fusion
The field of vascular anomalies has seen a rapid paradigm shift from descriptive to molecular diagnoses, with DNA-based next-generation sequencing becoming standard practice in the workup and characterization of lesions. RNA-based panels for fusion transcripts have been less utilized in the field of vascular anomalies. We report a recurrent, infiltrative prevertebral vascular tumor negative for known somatic variants but positive for an Ewing sarcoma breakpoint region 1::nuclear factor of activated T-cells cytoplasmic 2 fusion transcript. This lesion demonstrated intermediate malignant potential with morphologic atypia, novel intraluminal endothelial growth, and atypical mitoses, which have not previously been reported. RNA-based panels for fusion transcripts may represent the next impactful evolution of molecular characterization of vascular malformations and tumors.