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

Propensity for Hemorrhagic Presentation of Skull Base Chondrosarcoma in Patients with Ollier Disease and Maffucci Syndrome

2019 ◽  
Author(s):  
Andrew Venteicher ◽  
Michael Mcdowell ◽  
Ezequiel Goldschmidt ◽  
Eric Wang ◽  
Carl Snyderman ◽  
...  
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

Ollier Disease of the Lateral Skull Base

2018 ◽  
Vol 39 (1) ◽  
pp. e52-e53 ◽  
Author(s):  
Zachary C. Fridirici ◽  
Jeffrey J. Petrusek ◽  
Eric J. Thorpe ◽  
John P. Leonetti
Keyword(s):  
Skull Base ◽  
Lateral Skull Base ◽  
Ollier Disease

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

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

Skull Base Chondrosarcoma Caused by Ollier Disease: A Case Report and Literature Review

2019 ◽  
Vol 127 ◽  
pp. 103-108 ◽  
Author(s):  
Chang Ding ◽  
Wei Chen ◽  
Fujun Liu ◽  
Moli Xiong ◽  
Jing Chen
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Skull Base ◽  
Ollier Disease
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