IDH Mutations Are Potentially the Intrinsic Genetic Link among the Multiple Neoplastic Lesions in Ollier Disease and Maffucci Syndrome: A Clinicopathologic Analysis from a Single Institute in Shanghai, China

Abstract

Background: This study aims to investigate isocitrate dehydrogenase gene mutations in patients with the non-hereditary skeletal disorders of Ollier disease and Maffucci syndrome, particularly in the extraosseous tumours. Methods: A total of 16 tumours from three patients with Ollier disease and three patients with Maffucci syndrome were collected. Sanger sequencing was applied to determine the hotspot mutations of IDH1 and IDH2 genes in multiple neoplastic tissues. Results: A majority of the tumours displayed an IDH1 mutation (p.R132C in 11 tumours including the paediatric ovarian tumour from one patient with Ollier disease, 4 cutaneous haemangiomas from three patients with Maffucci syndrome, 5 enchondromas and 1 chondrosarcoma; p.R132H in 2 cartilaginous tumours from one patient). Conclusions: IDH1 mutations were demonstrated in multiple cartilaginous tumours and extraskeletal neoplasms in this case series. Specifically, identical IDH1 mutations were confirmed in the separate lesions of each patient. These results are in concordance with findings that have been reported. However, here, we additionally reported the first case of Ollier disease with an ovarian tumour, which harboured the identical IDH1 mutation with the corresponding cartilaginous tumour. We further provided evidence that IDH mutations are the potential genetic links among the multiple neoplastic lesions of Ollier disease and Maffucci syndrome.

A rare presentation of Maffucci syndrome: A case report and literature review

“…The pathogenesis of Maffucci syndrome is currently unclear, but it is generally believed to be caused by non-hereditary mutations in IDH1 and IDH2 ( 1 , 7 , 8 ). Amary et al ( 1 ) and Pansuriya et al ( 8 ) reported that Maffucci syndrome is caused by somatic mosaic IDH1/2 mutations, which can also be related to cases of isolated enchondroma and chondrosarcoma.…”

Chondrosarcoma in the Xxi Century

“…Вторинним центральним ХС притаманне розширене ендостальне гребінчасте ураження, ремоделювання кіркового шару, його деструкція та періостальна реакція на рентгенограмах, особливо в порівнянні з попередніми зображеннями основної енхондроми [72,73]. На КТ-сканах характерними ознаками злоякісного новоутворення є літичні ділянки, ендостальний фестон на 2/3 кортексу та більше або поширення на м'які тканини [72].…”