Pediatric thalamic glioblastoma associated with Ollier disease (multiple enchondromatosis): a rare case of concurrence

Abstract

<jats:p>Ollier disease and Maffucci syndrome are rare syndromes in which there is deforming dysplasia of cartilage, primarily but not exclusively involving the metaphyses and diaphyses of long bones. In a minority of patients, dysplasia can lead to sarcomatous degeneration, producing chondrosarcomas. There also appears to be an association with other neoplasms. Little has been written about the association between Ollier disease and intracranial tumors, and these papers have largely consisted of case reports in adults. The authors present the case of a 6-year-old girl with left arm osseous changes consistent with Ollier disease and a biopsy-proven thalamic glioblastoma multiforme. They then examine the co-occurrence of brain tumors in conjunction with a dyschondroplasia syndrome in children and adolescents to assess the presentation, treatment offered, and disease course of similar cases.</jats:p> <jats:p>Eight other such cases were identified, 6 in patients with Ollier disease (ranging in age from 7 to 18 years), and 2 with Maffucci syndrome (both in late adolescence). Including our own patient, 7 of the 9 cases of comorbid dyschondroplasia and intracranial malignancy occurred in girls. Some patients presented soon after the acute onset of symptoms, and others had a more subtle, protracted course over as many as 2 years. Some tumors were deemed resectable and others not. In only 1 instance was follow-up beyond 1 year reported.</jats:p>

Gliomatosis cerebri in a patient with Ollier disease

“…9 Multiple associations with other malignancies have been described, including gliomas. 10 to our knowledge there are no previous cases described in the literature of GC in a patient with Ollier disease.…”

Bone scintigraphy in Ollier′s disease: A rare case report

“…Frontal lobe is the most favored site in 50% of patients followed by brain stem. [2] Most patients have a single intracranial glioma however in 31.5% of patients’ multiple intracranial glioma have been reported. Our patient had a single glioma in left insular cortex, which has not been reported in the literature so far.…”

“…Recently identical gene IDH1 mutations have been reported in patients of low grade astrocytoma and among patients with single and multiple enchondroma speculating a common link between patients of glioma and Ollier's disease. [2] Another common link involving enchondroma and glioma in patients of Ollier's disease are mutations in parathyroid hormone related peptide parathyroid hormone related peptide Type-1 receptor (PTHR1). [2] The peripheral skeletal enchondroma in patients of Ollier's disease are amenable to possible profiling for IDH1 and PTHR1 mutations to identify a subset of patients who are likely to develop intracranial glioma necessitating a supervised follow-up.…”

“…[2] Another common link involving enchondroma and glioma in patients of Ollier's disease are mutations in parathyroid hormone related peptide parathyroid hormone related peptide Type-1 receptor (PTHR1). [2] The peripheral skeletal enchondroma in patients of Ollier's disease are amenable to possible profiling for IDH1 and PTHR1 mutations to identify a subset of patients who are likely to develop intracranial glioma necessitating a supervised follow-up. Exostosin-1 germ line mutation among patients of multiple osteochondroma resulting in deregulated cartilaginous cells of growth plate has been reported.…”

“…[1] The enchondroma particularly in hands and feet cause focal deformities that sometimes are complicated by pathological fractures, which may result in limb length discrepancies. [23456] Maffuci's disease a close variant of Ollier's disease is characterized by soft-tissue hemangiomas and non-skeletal neoplasm in addition to multiple skeletal enchondroma. [7] The other subtypes of Ollier's disease like metachondromatosis, genochondromatosis, spondylochondrodysplasia, dysspondyloenchondromatosis and chierospondyloenchondromatosis are relatively rare.…”