Maffucci syndrome is a rare nonhereditary disorder comprising of lymphovascular malformations and multiple enchondromas, which may be associated with several internal malignancies. This report describes a new association of Maffucci syndrome with pedal synovial sarcoma. Our case is also remarkable as lymphangioma circumscriptum is the sole lymphovascular component, which has been rarely reported. The aim of this report is to generate awareness about this rare condition and also highlight the importance of screening for malignancies in this disorder.
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Article Synopsis
- The study aims to enhance understanding of tumor development in patients with Ollier disease (OD) and Maffucci syndrome (MS), focusing on IDH-mutated tumors and their origins.
- It proposes that a single IDH-mutant cell could lead to various tumors due to early embryonic mutations and that not all mutated cells will display the IDH mutant characteristics.
- Additionally, it suggests that specific genetic predispositions (SNPs) may increase the likelihood of developing particular tumors in these patients, linking developmental defects to tumor occurrence.
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