- Department of Oncology, Montefiore Medical Center, New York, USA
- Department of Neurosuregry, Montefiore Medical Center, New York, USA
- Department of Pathology, Montefiore Medical Center, New York, USA
- Department of Neurology, Montefiore Medical Center, New York, USA
Department of Neurology, Montefiore Medical Center, New York, USA
DOI:10.4103/2152-7806.189731Copyright: © 2016 Surgical Neurology International This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
How to cite this article: Gajavelli S, Nakhla J, Nasser R, Yassari R, Weidenheim KM, Graber J. Ollier disease with anaplastic astrocytoma: A review of the literature and a unique case. Surg Neurol Int 01-Sep-2016;7:
How to cite this URL: Gajavelli S, Nakhla J, Nasser R, Yassari R, Weidenheim KM, Graber J. Ollier disease with anaplastic astrocytoma: A review of the literature and a unique case. Surg Neurol Int 01-Sep-2016;7:. Available from: http://surgicalneurologyint.com/surgicalint_articles/ollier-disease-anaplastic-astrocytoma-review-literature-unique-case/
Background:Ollier disease is a rare, nonfamilial disorder that primary affects the long bones and cartilage of joints with multiple enchondromas. It is associated with a higher risk of central nervous system (CNS) malignancies; although the incidence is unknown.
Case Description:Here, we present the case of a 55-year-old woman who developed an anaplastic astrocytoma with a known diagnosis of Ollier disease with a survival time of over 3 years.
Conclusion:This report draws attention to the rarity of this disease and the paucity of information regarding CNS involvement in Ollier disease, as well as reviews the current literature.
Keywords: Astrocytoma, endochondroma, IDH1 mutation, intracranial tumor, Ollier Disease
Ollier disease is a rare, nonfamilial disorder with a prevalence of 1:100,000, characterized by multiple enchondromatosis, with an asymmetric distribution, and areas of dysplastic cartilage. The condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically at the metaphysis and is divided into 6 types.[
It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germline and/or somatic) mutations.[
Clinical manifestations often appear in the first decade of life and usually start with local pain, bone swelling, and palpable bony masses, which is often associated with bone deformity. Headache and cranial nerve palsy are prominent clinical findings. The only effective treatment is the surgical resection of the lesions and symptomatic treatment of the possible complications such as pathological fractures, growth defect, and neurological symptoms.[
Intracranial lesions have been described previously and the most prevalent type of CNS tumors associated with Ollier disease is astrocytoma (low-grade to glioblastoma multiforme) and oligodendroglioma.[
A 55-year-old woman with Ollier disease and congenital limb deformities presented to our clinic in October 2013. She was originally diagnosed in April 2011 with progressive right hemiparesis and language and memory problems. Imaging studies demonstrated a large left-sided hemispheric mass [
She was recently seen in the clinic in September 2014 and was remarkably stable despite the lack of any postoperative adjuvant therapy. On examination, she continues to have right facial droop and right hemiparesis but with intact cranial nerves II–XII. Left arm was immobile due to pain but the left leg had full strength. The patient had moderate expressive aphasia but followed requests and answered simple questions easily. There were no spasticity or contractures present. Psychiatric evaluation showed a pleasant, cooperative individual, with poor short-term memory and psychomotor slowing. The husband described typical hypothalamic gelastic seizures episodes, 2–3 brief episodes per month despite the fact that she was on seizure prophylaxis medication. She had an magnetic resonance imaging (MRI) in August 2014 that showed stable disease without any interval [
A retrospective analysis published by Bathla et al. shows cases of Ollier disease with gliomas diagnosed at a mean age of 23.7 years.[
Interestingly Bathla reported that 50% of the patients had a distinct frontal lobe lesion, followed by 37.5% with brainstem lesions.[
A potential explanation could be a difference in the tumor genotype; in patients with anaplastic astrocytomas without any association with Ollier Disease, isocitrate dehydrogense 1 (IDH1) has been demonstrated to be the single, most prominent prognostic factor for survival, followed by age, diagnosis, and methylguanine-DNA-methyltransferase (MGMT) status.[
These genetic variations have been correlated with outcome and the sequence from most to least favorable prognosis is as follows: (1) Anaplastic astrocytoma with IDH1 mutation, (2) glioblastoma with IDH1 mutation, (3) anaplastic astrocytoma without IDH1 mutation, and (4) glioblastoma without IDH1 mutation.[
We present the case of a patient with Ollier disease and anaplastic astrocytoma who had a very favorable natural history of the CNS malignancy despite the lack of any adjuvant treatment after subtotal tumor resection. Analysis for IDH1 gene mutations in this patient was positive and IDH1 mutation in the tumor cells compared to wild type seems to have some protective effects in Ollier disease patients with anaplastic astrocytoma. An early genetic analysis after diagnosis can help in the prognostication of the illness and help the patients and their families to realistically deal with such a life-threatening cancer.
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