Combination therapy for unresectable primitive myxoid mesenchymal tumor of infancy: A story of cure
Combination therapy for unresectable primitive myxoid mesenchymal tumor of infancy: A story of cure
复制标题
不可切除的婴儿原始粘液样间质肿瘤的联合治疗：治愈的故事
DOI：
10.1002/pbc.29523
复制
发表时间：
2021
影响因子：
3.2
通讯作者：
Holly Pariury
中科院分区：
文献类型：
--
作者：
Trevor Memmott;Jessica Hass Alfonso;U. Udayasankar;Holly Pariury
婴儿黏液样肉瘤是一种罕见的侵袭性软肉瘤。当完全手术切除不可行时，发病率高，无事件生存率低。2在这里，我们提出了一个最初的治疗策略，为患者最初不可切除的PMMTI。MRI示左侧髂内肌和椎旁肌有3 - 4cm的肿块，在T2-3延伸至左侧神经孔，在T1有一个椎体成分（图S1），分期检查证实为局部病变。病理组织学检查见粘液样基质内包被的蓝色小圆细胞，免疫组化示BCL-6、NTRK呈斑片状阳性，BCOR呈弥漫性核阳性，结蛋白、Oscar、CD 99、S100、myogenin呈阴性。NTRK基因融合检测阴性，ETV 6阳性，实体瘤分子特征显示无病理性突变。总的来说，这些结果与PMMTI的诊断一致。
myxoid of infancy (PMMTI) is a rare, aggressive, soft sarcoma. When complete surgical resection is not feasible up front, morbidity is high and event-free survival is poor. 2 Here, we propose an initial treatment strategy for patients with initially unresectable PMMTI. a (MRI)showeda3–4cmmassinvolvingthelefttrapeziusandparaspinal muscles with extension into the left neural foramen at T2-3 and an epiduralcomponentatT1(FigureS1).Stagingworkupconfirmedlocal-ized disease. Biopsy revealed primitive-appearing small round blue cellsinabackgroundofmyxoidmatrix.Immunohistochemistryshowed patchy positivity for BCL-6 and NTRK, and diffuse nuclear immunore-activityforBCOR.Tumortissuewasnegativefordesmin,Oscar,CD99, S100, and myogenin. Testing negative for a NTRK gene fusion and rearrangementofETV6.Solidtumormolecularprofilingdemonstrated no pathologic mutations. Collectively these findings were consistent with the diagnosis of PMMTI.