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qingxincao 离线
zyyzwangjin 离线
Department of Oncology and Surgery, Section of Pathology, University of Padova, Padova, Italy.
Soft tissue sarcomas in the first year of life are rare, and the most common sarcomas in infancy are embryonal rhabdomyosarcoma, Ewing sarcoma/primitive neuroectodermal tumor, congenital infantile fibrosarcoma, and primitive sarcomas such as undifferentiated sarcoma. In this study, we report 6 cases of a primitive myxoid mesenchymal tumor of infancy (PMMTI), which previously may have been included under the diagnostic categories of congenital-infantile fibrosarcoma or infantile fibromatosis. PMMTI occurred in 6 infants, 3 of whom had a congenital presentation of a soft tissue mass. All patients were otherwise healthy. The tumors occurred on the trunk, extremities, and head and neck. Grossly, the tumors were nonencapsulated and had a multinodular appearance with focal infiltrative growth, a white fleshy cut surface, and a tumor diameter ranging from 2 to 15 cm. Histologically, a diffuse growth of primitive spindle, polygonal, and round cells occurred in a myxoid background. The tumor cells were arranged in a vaguely nodular pattern with peripheral collagenized stroma, higher cellularity at the periphery, and a delicate vascular network in the background. Immunohistochemically, the tumors displayed diffuse reactivity for vimentin and no reactivity for smooth muscle actin, muscle specific actin, desmin, S-100 protein, or myogenin. Electron microscopy documented a poorly differentiated fibroblastic proliferation. Four cases tested negative for the ETV6-NTRK3 gene fusion by RT-PCR. One tumor had a complex karyotypic abnormality with rearrangements involving chromosomes Y, 9, and 3. Three patients had recurrences or metastasis treated with a combination of surgery and chemotherapy. One patient is alive with persistent locally aggressive disease, 2 are alive with no evidence of recurrence, 1 had a recurrence treated surgically without further follow-up information, 1 patient died with persistent tumor and sepsis 6 weeks after diagnosis, and 1 patient was lost to follow-up. The morphologic appearance combined with the ultrastructural features and absence of the typical gene rearrangement of congenital-infantile fibrosarcoma are unique, and we propose that PMMTI represents a new category of pediatric fibroblastic-myofibroblastic tumor.
软组织肉瘤在初生婴儿是非常罕见的,而最常见的肉瘤是胚横、Ewing肉瘤/PNET、先天性婴儿型纤维肉瘤、原始肉瘤(例如未分化肉瘤)。在这个研究中,我们报道了6例婴幼儿粘液性间叶肿瘤(PMMTI),此前可能已经被包括在先天性婴儿型纤维肉瘤或婴幼儿纤维瘤病的分类中。PMMTI发生在6岁以内儿童,其中3个表现为先天性肿块。所有病人除此之外都很健康。肿瘤发生于躯干、四肢、头颈。大体上,肿瘤无包膜、多结节外观和局部浸润性生长,白色细嫩的切面,直径2-15cm。组织学上是粘液性背景中,原始的梭形、多角形、圆形细胞弥漫增生,肿瘤细胞排列成胶原基质包裹的模糊结节状结构,结节外围细胞密度高,背景中可见微细的血管网。免疫组化显示肿瘤细胞弥漫表达Vim,而不表达SMA、MSA、Des、S-100、Myogenin。电子显微镜显示为低分化的纤维母细胞增生。4例运用RT-PCR检测ETV6-NTRK3 融合基因阴性。一例有复杂的异常核型,涉及Y、9、3号染色体的重排。3例患者经过手术及化疗后仍旧复发或转移。1例患者存活但病变局部进展。两例患者无复发存活,一例复发后手术患者未见后续消息。一例患者因肿瘤合并败血症6周后死亡,还有一例失随访。形态学结合超微结构以及缺乏先天性婴儿型纤维肉瘤的特有基因表型,表明这是独一无二的,因此我们建议PMMTI代表一种新的儿童纤维-肌纤维母细胞肿瘤分类。
Department of Oncology and Surgery, Section of Pathology, University of Padova, Padova, Italy.
Soft tissue sarcomas in the first year of life are rare, and the most common sarcomas in infancy are embryonal rhabdomyosarcoma, Ewing sarcoma/primitive neuroectodermal tumor, congenital infantile fibrosarcoma, and primitive sarcomas such as undifferentiated sarcoma. In this study, we report 6 cases of a primitive myxoid mesenchymal tumor of infancy (PMMTI), which previously may have been included under the diagnostic categories of congenital-infantile fibrosarcoma or infantile fibromatosis. PMMTI occurred in 6 infants, 3 of whom had a congenital presentation of a soft tissue mass. All patients were otherwise healthy. The tumors occurred on the trunk, extremities, and head and neck. Grossly, the tumors were nonencapsulated and had a multinodular appearance with focal infiltrative growth, a white fleshy cut surface, and a tumor diameter ranging from 2 to 15 cm. Histologically, a diffuse growth of primitive spindle, polygonal, and round cells occurred in a myxoid background. The tumor cells were arranged in a vaguely nodular pattern with peripheral collagenized stroma, higher cellularity at the periphery, and a delicate vascular network in the background. Immunohistochemically, the tumors displayed diffuse reactivity for vimentin and no reactivity for smooth muscle actin, muscle specific actin, desmin, S-100 protein, or myogenin. Electron microscopy documented a poorly differentiated fibroblastic proliferation. Four cases tested negative for the ETV6-NTRK3 gene fusion by RT-PCR. One tumor had a complex karyotypic abnormality with rearrangements involving chromosomes Y, 9, and 3. Three patients had recurrences or metastasis treated with a combination of surgery and chemotherapy. One patient is alive with persistent locally aggressive disease, 2 are alive with no evidence of recurrence, 1 had a recurrence treated surgically without further follow-up information, 1 patient died with persistent tumor and sepsis 6 weeks after diagnosis, and 1 patient was lost to follow-up. The morphologic appearance combined with the ultrastructural features and absence of the typical gene rearrangement of congenital-infantile fibrosarcoma are unique, and we propose that PMMTI represents a new category of pediatric fibroblastic-myofibroblastic tumor.
我这次还是在三楼了,(上海市每季度进行该读片会4次,每季度一次,在该季度的第一月第一个周六上午进行),记住了。