Camille Allirot, Anne-Sophie Bidaut, Cécile Perret, Severine Bobillier-Chaumont, Gaelle Pierron, Olivier Delattre, Geraldine Saada-Sebag, Leer-Florin Anne Mc, Eleni Nika, Christian Piolat, Chantal Durand, Dominique Plantaz, Hervé Sartelet
1 Département D'oncologie Pédiatrique, CHU de Grenoble, Grenoble, France.
2 Département de Pathologie, CHU de Grenoble, Grenoble, France.
Pediatr Dev Pathol. 2018 Jul-Aug;21(4):406-410. doi: 10.1177/1093526617706818. Epub 2017 May 3.
Recent molecular advances have identified a novel sarcoma defined molecularly by oncogenic fusion of the genes CIC and DUX4 termed CIC-DUX4 sarcomas. The most common site of involvement was the trunk but some cases have been described in the head and neck and extremities. We report one of the first cases of primitive renal CIC-DUX4 sarcoma: a 12-year-old boy who presented a renal tumor, a vena cava thrombus, and lung metastases. The morphological and immunohistochemical analysis showed an undifferentiated sarcoma. Molecular analysis demonstrated a CIC-DUX4 translocation, confirmed by fluorescence in situ hybridization. Despite treatment with chemotherapy, the evolution was unfavorable and the patient died 17 months after the diagnosis in a context of brain metastases. The diagnosis of sarcoma with CIC-DUX4 gene fusion is difficult in lack of specific pathological characteristics emphasizing the need for molecular analysis. Treatment has not yet been codified for these very aggressive tumors.
最近的分子研究进展发现了一种新型肉瘤，其分子定义为CIC和DUX4基因的致癌性融合，称为CIC-DUX4肉瘤。最常见的受累部位是躯干，但也有一些病例发生在头颈部和四肢。我们报告了首例原发性肾CIC-DUX4肉瘤病例：一名12岁男孩，出现肾肿瘤、腔静脉血栓和肺转移。形态学和免疫组织化学分析显示为未分化肉瘤。分子分析显示存在CIC-DUX4易位，荧光原位杂交证实了这一点。尽管进行了化疗，但病情进展不利，患者在诊断后17个月死于脑转移。由于缺乏特异性病理特征，CIC-DUX4基因融合肉瘤的诊断较为困难，这凸显了分子分析的必要性。对于这些极具侵袭性的肿瘤，治疗方法尚未规范化。
