Primitive Myxoid Mesenchymal Tumor of Infancy: A Clinicopathologic Report of 6 Cases
Primitive Myxoid Mesenchymal Tumor of Infancy: A Clinicopathologic Report of 6 Cases
复制标题
婴儿原始粘液样间叶瘤6例临床病理报告
DOI：
10.1097/01.pas.0000190784.18198.d8
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发表时间：
2006
期刊：
影响因子：
--
通讯作者：
C. Coffin
中科院分区：
文献类型：
--
作者：
R. Alaggio;V. Ninfo;Angelo Rosolen;C. Coffin
出生后第一年发生的软组织肉瘤很少见，婴儿期最常见的肉瘤是胚胎性横纹肌肉瘤、尤文肉瘤/原始神经外胚层肿瘤、先天性婴儿纤维肉瘤和原始肉瘤如未分化肉瘤。在这项研究中，我们报告了6例婴儿原始粘液样间叶肿瘤（PMMTI），以前可能已被列入诊断类别的先天性婴儿纤维肉瘤或婴儿纤维瘤病。PMMTI发生在6名婴儿，其中3名有先天性软组织肿块。所有患者在其他方面均健康。肿瘤发生在躯干、四肢和头颈部。大体上，肿瘤无包膜，呈多结节状，局灶性浸润性生长，切面呈白色肉质，肿瘤直径2 - 15 cm。组织学上，粘液样背景中弥漫性生长原始梭形、多角形和圆形细胞。肿瘤细胞呈模糊的结节状排列，周围有胶原化基质，周围细胞密度较高，背景中有精致的血管网。免疫组化显示肿瘤对波形蛋白呈弥漫性反应，对平滑肌肌动蛋白、肌肉特异性肌动蛋白、结蛋白、S-100蛋白或肌细胞生成素无反应。电子显微镜下观察到低分化成纤维细胞增生。4例RT-PCR检测ETV 6-NTRK 3融合基因阴性。一个肿瘤有一个复杂的核型异常与重排涉及染色体Y，9和3。3例复发或转移患者接受了手术和化疗的联合治疗。1例患者因持续性局部侵袭性疾病存活，2例患者存活但无复发证据，1例患者接受了复发手术治疗但无进一步随访信息，1例患者在诊断后6周因持续性肿瘤和脓毒症死亡，1例患者失访。先天性婴儿纤维肉瘤的形态学外观结合超微结构特征和缺乏典型的基因重排是独特的，我们建议PMMTI代表一个新的类别的儿科成纤维细胞-肌纤维母细胞肿瘤。
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.