Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2

2011 ◽  
Vol 43 (12) ◽  
pp. 1262-1265 ◽  
Author(s):  
M Fernanda Amary ◽  
Stephen Damato ◽  
Dina Halai ◽  
Malihe Eskandarpour ◽  
Fitim Berisha ◽  
...  
Keyword(s):  
Maffucci Syndrome ◽  
Ollier Disease

Skull Base Enchondroma and Chondrosarcoma in Ollier Disease and Maffucci Syndrome

2019 ◽  
Vol 130 ◽  
pp. e356-e361
Author(s):  
Soliman Oushy ◽  
Maria Peris-Celda ◽  
Jamie J. Van Gompel
Keyword(s):  
Skull Base ◽  
Maffucci Syndrome ◽  
Ollier Disease

scholarly journals Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

2011 ◽  
Vol 43 (12) ◽  
pp. 1256-1261 ◽  
Author(s):  
Twinkal C Pansuriya ◽  
Ronald van Eijk ◽  
Pio d'Adamo ◽  
Maayke A J H van Ruler ◽  
Marieke L Kuijjer ◽  
...  
Keyword(s):  
Spindle Cell ◽  
Maffucci Syndrome ◽  
Ollier Disease ◽  
Idh1 And Idh2 Mutations ◽  
Spindle Cell Hemangioma

scholarly journals Gene of the month: IDH1

2020 ◽  
Vol 73 (10) ◽  
pp. 611-615
Author(s):  
Cassandra Bruce-Brand ◽  
Dhirendra Govender
Keyword(s):  
Somatic Mutations ◽  
Oxidative Decarboxylation ◽  
Low Grade ◽  
Isocitrate Dehydrogenase 1 ◽  
Maffucci Syndrome ◽  
Downstream Effects ◽  
Diffuse Gliomas ◽  
Ollier Disease ◽  
Mutant Idh1 ◽  
Acute Myeloid

Isocitrate dehydrogenase 1 (IDH1) encodes a protein which catalyses the oxidative decarboxylation of isocitrate to α-ketoglutarate. Mutant IDH1 favours the production of 2-hydroxyglutarate, an oncometabolite with multiple downstream effects which promote tumourigenesis. IDH1 mutations have been described in a number of neoplasms most notably low-grade diffuse gliomas, conventional central and periosteal cartilaginous tumours and cytogenetically normal acute myeloid leukaemia. Post zygotic somatic mutations of IDH1 characterise the majority of cases of Ollier disease and Maffucci syndrome. IDH1 mutations are uncommon in epithelial neoplasia but have been described in cholangiocarcinoma.

Cancer surveillance in children with Ollier Disease and Maffucci Syndrome

2021 ◽  
Author(s):  
Manuel Diezi ◽  
Pierre‐Yves Zambelli ◽  
Andrea Superti‐Furga ◽  
Sheila Unger ◽  
Raffaele Renella
Keyword(s):  
Cancer Surveillance ◽  
Maffucci Syndrome ◽  
Ollier Disease

scholarly journals Incidence, Predictive Factors, and Prognosis of Chondrosarcoma in Patients with Ollier Disease and Maffucci Syndrome: An International Multicenter Study of 161 Patients

2011 ◽  
Vol 16 (12) ◽  
pp. 1771-1779 ◽  
Author(s):  
Suzan H.M. Verdegaal ◽  
Judith V.M.G. Bovée ◽  
Twinkal C. Pansuriya ◽  
Robert J. Grimer ◽  
Harzem Ozger ◽  
...  
Keyword(s):  
Predictive Factors ◽  
Multicenter Study ◽  
Maffucci Syndrome ◽  
Ollier Disease ◽  
International Multicenter Study ◽  
International Multicenter

scholarly journals Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report

2019 ◽  
Vol 131 (6) ◽  
pp. 1829-1834 ◽  
Author(s):  
Takahide Nejo ◽  
Shota Tanaka ◽  
Masako Ikemura ◽  
Masashi Nomura ◽  
Shunsaku Takayanagi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Cns Tumors ◽  
Diffuse Astrocytoma ◽  
Single Patient ◽  
Isocitrate Dehydrogenase 1 ◽  
Congenital Diseases ◽  
Maffucci Syndrome ◽  
Ollier Disease ◽  
Different Origins

Maffucci syndrome (MS) and Ollier disease (OD) are nonhereditary congenital diseases characterized by multiple enchondromas and/or chondrosarcomas. Recent studies have implicated somatic mosaic mutations of isocitrate dehydrogenase 1 or 2 (IDH1/2) as contributing to the pathogenesis of MS and OD. Occasionally, patients with these disorders may also present with central nervous system (CNS) tumors; however, detailed genetic analyses are limited. In this article, the authors report on a male patient with MS, harboring three CNS tumors that share a common genetic alteration. Over a 9-year period, three separate tumor resections were conducted for sellar, intraparenchymal brainstem, and osseous clival tumors. The histopathological diagnoses were pituitary adenoma, diffuse astrocytoma, and chondrosarcoma, respectively. Sanger sequencing revealed a common IDH1 R132C mutation among all three CNS tumors but not in blood DNA. Administering chemotherapy (nimustine) and subsequent radiation therapy to the brainstem glioma and the residual lesion in the clivus have kept the patient progression free for 18 months. This is the first report demonstrating an IDH1 mutation shared among three different CNS tumors in a single patient with MS. The findings support the hypothesis that in MS and OD, a single common IDH1 mutation triggers tumorigenesis in cells of different origins and locations in a somatic mosaic fashion.

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