Miyagi Ryo, Nishisho Toshihiko, Takata Shinjiro, Shimatani Yoshimitsu, Toki Shunichi, Sairyo Koichi
Department of Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8503, Japan.
Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
Case Rep Orthop. 2017;2017:3025084. doi: 10.1155/2017/3025084. Epub 2017 May 29.
Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLS) is an intermediate or locally aggressive form of adipocytic soft tissue sarcoma. Muscular dystrophy (MD) is characterized by progressive muscle atrophy and its replacement by adipose and fibrous tissue. Recently, some authors have reported that MD genes are related to neoplastic formation, but there have been no detailed clinical reports of ALT associated with MD.
A 73-year-old woman with a diagnosis of limb-girdle MD visited our department for recurrence of a huge tumor in her left thigh. She had undergone resection of a lipoma at the same site more than 20 years earlier. Imaging studies revealed a lipomatous tumor in her left thigh. We performed marginal resection including the adjacent muscles. Histological diagnosis was atypical lipomatous tumor. The postoperative course was uneventful, with no recurrence at 36 months of follow-up.
We encountered a huge atypical tumor in a patient with MD. This is the first detailed report to describe an association between ALT and MD. We hypothesize that degenerative changes occurring in adipose tissue during muscle atrophy can cause lipomatous neoplasms and moreover that the mutation of MD-related genes may lead to the proliferation of tumor cells or to malignancy.
非典型脂肪瘤性肿瘤/高分化脂肪肉瘤（ALT/WDLS）是脂肪细胞性软组织肉瘤的一种中间型或局部侵袭性形式。肌肉萎缩症（MD）的特征是进行性肌肉萎缩并被脂肪和纤维组织替代。最近，一些作者报道MD基因与肿瘤形成有关，但尚无关于ALT与MD相关的详细临床报告。
一名诊断为肢带型MD的73岁女性因左大腿巨大肿瘤复发前来我科就诊。20多年前她曾在同一部位切除过脂肪瘤。影像学检查显示左大腿有一个脂肪瘤性肿瘤。我们进行了包括相邻肌肉的边缘切除。组织学诊断为非典型脂肪瘤性肿瘤。术后过程顺利，随访36个月无复发。
我们在一名MD患者中遇到了一个巨大的非典型肿瘤。这是第一份详细描述ALT与MD之间关联的报告。我们推测，肌肉萎缩期间脂肪组织发生的退行性变化可导致脂肪瘤性肿瘤，而且MD相关基因的突变可能导致肿瘤细胞增殖或恶变。
