PDF(Pubmed)
Abstract：
BACKGROUND: Inflammatory myofibroblastic tumors (IMTs) are rare mesenchymal soft tissue sarcomas that often present diagnostic challenges due to their wide and varied morphology. A subset of IMTs have fusions involving ALK or ROS1. The role of next-generation sequencing (NGS) for classification of unselected sarcomas remains controversial.
RESULTS: We report a case of a metastatic sarcoma in a 34-year-old female originally diagnosed as an unclassified spindle cell sarcoma with myofibroblastic differentiation and later reclassified as IMT after NGS revealed a TFG-ROS1 rearrangement. Histologically, the neoplasm had spindle cell morphology with a lobulated to focally infiltrative growth pattern with scant inflammatory cell infiltrate. Immunohistochemistry demonstrated focal desmin and variable smooth muscle actin staining but was negative for SOX10, S100, and CD34. Fluorescence in situ hybridization was negative for USP6 or ALK gene rearrangements. NGS revealed a TFG-ROS1 rearrangement and the patient was treated with crizotinib with clinical benefit.
CONCLUSIONS: We discuss the role of NGS as well as its potential benefit in patients with unresectable, ALK-negative metastatic disease. Considering this case and previous literature, we support the use of NGS for patients requiring systemic treatment.
RESULTS: We report a case of a metastatic sarcoma in a 34-year-old female originally diagnosed as an unclassified spindle cell sarcoma with myofibroblastic differentiation and later reclassified as IMT after NGS revealed a TFG-ROS1 rearrangement. Histologically, the neoplasm had spindle cell morphology with a lobulated to focally infiltrative growth pattern with scant inflammatory cell infiltrate. Immunohistochemistry demonstrated focal desmin and variable smooth muscle actin staining but was negative for SOX10, S100, and CD34. Fluorescence in situ hybridization was negative for USP6 or ALK gene rearrangements. NGS revealed a TFG-ROS1 rearrangement and the patient was treated with crizotinib with clinical benefit.
CONCLUSIONS: We discuss the role of NGS as well as its potential benefit in patients with unresectable, ALK-negative metastatic disease. Considering this case and previous literature, we support the use of NGS for patients requiring systemic treatment.
摘要：
背景：炎性肌纤维母细胞瘤（IMT）是罕见的间充质软组织肉瘤，由于其广泛和多样的形态，通常存在诊断挑战。IMT的子集具有涉及ALK或ROS1的融合。下一代测序（NGS）在未选择的肉瘤分类中的作用仍存在争议。
结果：我们报告了一例34岁女性转移性肉瘤，最初诊断为未分类的梭形细胞肉瘤，伴有肌纤维母细胞分化，后来在NGS显示TFG-ROS1重排后重新分类为IMT。组织学上,肿瘤具有梭形细胞形态，呈分叶至局部浸润的生长模式，炎性细胞浸润很少。免疫组织化学显示局灶性结蛋白和可变的平滑肌肌动蛋白染色，但SOX10，S100和CD34阴性。荧光原位杂交对USP6或ALK基因重排呈阴性。NGS显示TFG-ROS1重排，患者接受克唑替尼治疗具有临床益处。
结论：我们讨论了NGS的作用及其在不可切除患者中的潜在益处。ALK阴性转移性疾病。考虑到这个案例和以前的文献，我们支持将NGS用于需要全身治疗的患者.
结果：我们报告了一例34岁女性转移性肉瘤，最初诊断为未分类的梭形细胞肉瘤，伴有肌纤维母细胞分化，后来在NGS显示TFG-ROS1重排后重新分类为IMT。组织学上,肿瘤具有梭形细胞形态，呈分叶至局部浸润的生长模式，炎性细胞浸润很少。免疫组织化学显示局灶性结蛋白和可变的平滑肌肌动蛋白染色，但SOX10，S100和CD34阴性。荧光原位杂交对USP6或ALK基因重排呈阴性。NGS显示TFG-ROS1重排，患者接受克唑替尼治疗具有临床益处。
结论：我们讨论了NGS的作用及其在不可切除患者中的潜在益处。ALK阴性转移性疾病。考虑到这个案例和以前的文献，我们支持将NGS用于需要全身治疗的患者.
