左手踝部伴有 IDH1 R132C 突变的巨大软骨肉瘤的马富奇综合征：病例报告。
Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.
机构信息
Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, 150 Ximen Road, Linhai, 317000, Zhejiang, China.
DIAN Diagnostics, Hangzhou, 310058, Zhejiang, China.
出版信息
World J Surg Oncol. 2022 Jun 29;20(1):218. doi: 10.1186/s12957-022-02686-z.
BACKGROUND
Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk of developing malignant tumors. Given their rarity, the pathogenesis of these tumors has not been clarified, and there is no standard treatment.
CASE PRESENTATION
We present a case of a 45-year-old man with MS to supplement the clinical manifestations and explore the molecular mechanism of MS. The patient underwent amputation surgery to inhibit tumor development and was diagnosed with MS with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis results revealed isocitrate dehydrogenase 1 (IDH1) R132C mutation in chondrosarcoma lesions but not in blood DNA.
CONCLUSIONS
This case report showed MS complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation, which is appropriate to monitor the development of MS pathology and other concomitant lesions.
背景
马富奇综合征（MS）是一种罕见的非遗传性先天性中胚层发育不良，其特征为多发性软骨瘤和血管瘤，并伴有恶性肿瘤发生风险增加。由于这些肿瘤较为罕见，其发病机制尚未阐明，也没有标准的治疗方法。
病例介绍
我们报告了一例 45 岁男性 MS 病例，以补充临床表现并探讨 MS 的分子机制。该患者接受了截肢手术以抑制肿瘤发展，并被诊断为左踝部 1-2 级巨大软骨肉瘤合并 MS。此外，全外显子分析结果显示软骨肉瘤病变中存在异柠檬酸脱氢酶 1（IDH1）R132C 突变，但在血液 DNA 中未发现。
结论
本病例报告显示 MS 合并左踝部巨大软骨肉瘤，并存在 IDH1 R132C 突变，适合监测 MS 病理和其他伴随病变的发展。
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