Clinical Sequencing of High-Grade Undifferentiated Sarcomas: A Case Series and Report of an Aggressive Primary Cardiac Tumor With Multiple Oncogenic Drivers.
Clinical Sequencing of High-Grade Undifferentiated Sarcomas: A Case Series and Report of an Aggressive Primary Cardiac Tumor With Multiple Oncogenic Drivers.
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DOI：
10.1200/po.19.00322
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发表时间：
2020-09
影响因子：
4.6
通讯作者：
Chandan Kumar-Sinha;Bailey Anderson;A. Heider;Josh N. Vo;D. Robinson;Yi-Mi Wu;A. Chinnaiyan;R. Mody
中科院分区：
文献类型：
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作者：
Chandan Kumar-Sinha;Bailey Anderson;A. Heider;Josh N. Vo;D. Robinson;Yi-Mi Wu;A. Chinnaiyan;R. Mody
未分化肉瘤（UDS）没有明确的组织学或遗传学特征，占所有软组织肉瘤的20%至25%。在这里，我们描述了一个病例系列的13 UDS肿瘤分析通过综合临床测序（ICS）程序MI_Oncoseq在密歇根大学。在大多数病例中，我们确定了“可操作的”畸变，包括诊断性基因融合和治疗性靶向畸变。一个不寻常的侵略性的情况下，心脏UDS在3岁的女孩，其中肿瘤测序确定了多个可操作的改变，和基因表达的签名表明肿瘤的神经外胚层/神经嵴起源。
Undifferentiated sarcomas (UDS) present with no defined histologic or genetic features and represent 20% to 25% of all soft tissue sarcomas. Here, we describe a case series of 13 UDS tumors analyzed through the integrative clinical sequencing (ICS) program MI_Oncoseq at the University of Michigan. We identified “actionable” aberrations, including diagnostic gene fusions and therapeutically targetable aberrations, in a majority of cases. One unusually aggressive case of cardiac UDS in a 3-year-old girl is described, in which tumor sequencing identified multiple actionable alterations, and gene expression signature suggested a tumor of neuroectoderm/neural crest origin.