Department of Plastic Surgery, Rouen University Hospital, France.
Am J Surg Pathol. 2012 May;36(5):779-82. doi: 10.1097/PAS.0b013e31824c0d92.
Mastocytosis is a group of disorders characterized by abnormal mast cell proliferation, involving the skin in 80% of cases. Cutaneous mastocytosis, which appears in childhood in 60% of cases, usually has a benign course with a gradually regressive evolution before puberty. Mast cell sarcomas, part of the systemic forms of mastocytosis, are very rare tumors characterized by a destructive growth of highly atypical mast cells, with secondary spread, poor prognosis, and low survival rates. We report the first known case of primary cutaneous mast cell sarcoma due to the transformation of a benign solitary mastocytoma in an adult suffering from an unregressive localized cutaneous mastocytosis. Histologic characteristics of the tumor, mutation analysis, and c-Kit expression were compared with available data. Wide surgical excision of the tumor followed by adjuvant local radiotherapy were performed, and for the first time the use of imatinib was attempted, as neoplastic mast cells expressed the CD117 marker. However, they failed to control the progression of sarcoma. To date, no treatment is known to be effective for this disease, which is associated with short-term survival of the patients.
肥大细胞增多症是一组以异常肥大细胞增殖为特征的疾病，80%的病例累及皮肤。皮肤肥大细胞增多症在 60%的病例中出现在儿童期，通常具有良性病程，在青春期前逐渐消退。肥大细胞瘤肉瘤是肥大细胞增多症系统性形式的一部分，是非常罕见的肿瘤，其特征是高度非典型肥大细胞的破坏性生长，并伴有继发性播散、预后不良和低生存率。我们报告了首例已知的原发性皮肤肥大细胞瘤肉瘤，原因是一名患有无法消退的局限性皮肤肥大细胞增多症的成年患者良性孤立性肥大细胞瘤发生转化。肿瘤的组织学特征、突变分析和 c-Kit 表达与现有数据进行了比较。对肿瘤进行广泛的手术切除，然后辅助局部放疗，首次尝试使用伊马替尼，因为肿瘤性肥大细胞表达 CD117 标志物。然而，它们未能控制肉瘤的进展。迄今为止，尚无已知的有效治疗方法，这种疾病与患者的短期生存相关。
