Maffucci Syndrome Complicated by Giant Chondrosarcoma in the Left Ankle with an IDH1 R132C Mutation: Case Report

Abstract

Background: Maffucci syndrome is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. It is associated with an increased risk of the development of malignant tumors. We present a case of 45-year-old man with Maffucci syndrome to supplement the clinical manifestations and explore the molecular mechanism of Maffucci syndrome.Results: The patient was underwent amputation surgery to inhibit tumor development and diagnosed as Maffucci syndrome with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis by Next Generation Sequencing revealed isocitrate dehydrogenase 1 R132C mutation in chondrosarcoma lesions but not in blood DNA. Conclusions: This case report presents the genetic evidence for the inclusion of chondrosarcoma among tumors characterizing Maffucci syndrome. Consequently, it is suggested that patients with Maffucci syndrome should be followed up more actively to exclude neoplasms due to IDH1 R132C somatic mutation.

A Case Study of De-Staging and Reverse Transformation of a IDH Mutated Malignant Metastatic Sarcoma to Benign Tumor and Complete Clinical Remission by Application of Multi Targeted Epigenetic Therapies

“…These individuals harbor somatic mosaicism of mutations in isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2), as the crucial factors in the pathogenesis of these diseases. The advances in detection of genetic alterations through liquid biopsy has enabled clinicians to not only detect the related alteration but also monitor the response to the therapy [2]. As such many times an actual tissue biopsy is not required, until excisional biopsy is performed through complete resection.…”