Hocar O, Le Cesne A, Berissi S, Terrier P, Bonvalot S, Vanel D, Auperin A, Le Pechoux C, Bui B, Coindre J M, Robert C
Melanoma Committee, Gustave Roussy Institute, 114 Rue Edouard Vaillant, 94805 Villejuif, Cedex, France.
Dermatol Res Pract. 2012;2012:984096. doi: 10.1155/2012/984096. Epub 2012 May 30.
Clear cell sarcomas are aggressive, rare soft tissue tumors and their classification among melanoma or sarcoma is still undetermined due to their clinical, pathologic, and molecular properties found in both types of tumors. This is a retrospective study of 52 patients with CCS seen between April 1979 and April 2005 in two institutions. The EWS-ATF-1 fusion transcript was studied in 31 patients and an activating mutation of the BRAF or NRAS gene was researched in 22 patients. 30 men and 22 women, with a mean age of 33 were studied. Forty-three tumors (82.69%) were located in the extremities, specially the foot (19 tumors). Median initial tumor size was 4.8 cm (1 to 15 cm). Necrosis involving more than 50% of the tumor cells was found in 14 cases (26.92%). High mitotic rate (>10) was found in 25 cases (48.07%). The EWS/ATF-1 translocation was found in 28 (53.84%) of 31 patients studied, and mutation of BRAF or NRAS was found in only 2 of 22 patients analyzed cases (3.84%). Among the tumor-associated parameters, only tumor size (>4 cm) emerged as a significant prognostic factor. Forty-nine patients had a localized disease at diagnosis (94.23%) and underwent surgical resection immediately (90%) or after neoadjuvant chemotherapy (CT) (10%). Various CT regimens were used in 37 patients (71.15%) with no significant efficacy. The 5- and 10-year OS rates were 59% and 41%, respectively. Tumor size was the only emerging prognosis factor in our series. Complete surgical resection remains the optimal treatment for this aggressive chemoresistant tumor.
透明细胞肉瘤是侵袭性、罕见的软组织肿瘤，由于在这两种肿瘤中均发现其具有临床、病理及分子特征，因此其在黑色素瘤或肉瘤中的分类仍未确定。这是一项对1979年4月至2005年4月期间在两家机构就诊的52例透明细胞肉瘤患者的回顾性研究。对31例患者研究了EWS-ATF-1融合转录本，对22例患者研究了BRAF或NRAS基因的激活突变。研究对象包括30名男性和22名女性，平均年龄为33岁。43个肿瘤（82.69%）位于四肢，特别是足部（19个肿瘤）。肿瘤初始大小的中位数为4.8厘米（1至15厘米）。14例（26.92%）发现肿瘤细胞坏死超过50%。25例（48.07%）有高有丝分裂率（>10）。在31例研究患者中，28例（53.84%）发现EWS/ATF-1易位，在22例分析病例中仅2例（3.84%）发现BRAF或NRAS突变。在肿瘤相关参数中，只有肿瘤大小（>4厘米）是一个显著的预后因素。49例患者在诊断时为局限性疾病（94.23%），立即（90%）或在新辅助化疗（CT）后（10%）接受了手术切除。37例患者（71.15%）使用了各种CT方案，但疗效不显著。5年和10年总生存率分别为59%和41%。肿瘤大小是我们系列研究中唯一出现的预后因素。完整的手术切除仍然是这种侵袭性化疗耐药肿瘤的最佳治疗方法。
