Sarcomatous transformation in the McCune-Albright syndrome
Sarcomatous transformation in the McCune-Albright syndrome
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DOI：
10.1007/s10006-011-0286-5
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发表时间：
2012-06-01
影响因子：
1.8
通讯作者：
Nascimento, Luiz Augusto
中科院分区：
文献类型：
--
作者：
Machado Pires de Araujo, Pedro Ivo;Rocha Soares, Vitor Yamashiro;Nascimento, Luiz Augusto
背景麦考恩-奥尔布赖特综合征是一种相对罕见的疾病，以纤维结构不良、CAFC-u-lait色素沉着和内分泌紊乱三者为特征。它主要影响女性，可能与0.4%至4%的肉瘤样变性有关。本文报道了一例24岁女性患者，她在口腔中出现肿块30天，可能起源于下颌骨左支。她以前被诊断为多发性骨化性纤维异常增殖症，并伴有CAFC斑点和内分泌紊乱，因此是McCune-Albright综合征的特征。活检标本的组织病理学检查显示为下颌骨骨肉瘤。患者接受了化疗和手术切除病变。患者手术一年后病情得到控制。讨论患者表现为纤维异常增殖区的肉瘤样变性，由产生类骨质的间充质细胞组成。恶性变性是罕见的，当它不与麦克古恩-奥尔布赖特综合征有关。这种综合症没有根治的方法。主治医生需要控制内分泌紊乱，对严重畸形的病例进行手术治疗，并提供临床和心理护理。
Background McCune-Albright syndrome is a relatively rare disease characterized by the trio of fibrous dysplasia, cafc-u-lait pigmentation, and endocrine disturbances. It predominantly affects females and may be associated with sarcomatous degeneration in 0.4% to 4% of the cases.Case report This article reports on the case of a 24-year-old female patient who had presented a mass in the oral cavity for 30 days, probably originating from the left ramus of the mandible. She had a previous diagnosis of polyostotic fibrous dysplasia, along with cafc-au-lait spots and endocrine disorders, thus characterizing McCune-Albright syndrome. Histopathological examination of a biopsy specimen revealed osteosarcoma of the mandible. The patient underwent chemotherapy and a surgical procedure for lesion resection. One year has now passed since the patient's operation, and the disease is under control.Discussion The patient presented sarcomatous degeneration in areas of fibrous dysplasia, consisting of mesenchymal cells that produced osteoid. Malignant degeneration is rare when it is not associated with McCune-Albright syndrome. There is no curative treatment for the syndrome. Attending physicians need to bring endocrine disorders under control, with surgical treatment in cases of significant deformities, as well as providing clinical and psychological care.