Cancer surveillance in children with Ollier Disease and Maffucci Syndrome

Author(s):  
Manuel Diezi ◽  
Pierre‐Yves Zambelli ◽  
Andrea Superti‐Furga ◽  
Sheila Unger ◽  
Raffaele Renella
2019 ◽  
Vol 130 ◽  
pp. e356-e361
Author(s):  
Soliman Oushy ◽  
Maria Peris-Celda ◽  
Jamie J. Van Gompel

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 ◽  
...  

2020 ◽  
Vol 73 (10) ◽  
pp. 611-615
Author(s):  
Cassandra Bruce-Brand ◽  
Dhirendra Govender

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.


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

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 ◽  
...  

2019 ◽  
Vol 131 (6) ◽  
pp. 1829-1834 ◽  
Author(s):  
Takahide Nejo ◽  
Shota Tanaka ◽  
Masako Ikemura ◽  
Masashi Nomura ◽  
Shunsaku Takayanagi ◽  
...  

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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