Acute myelogenous leukemia associated with Ollier disease

White, S B A Matthew; Martin, Paul L.; McLean, Thomas W.

doi:10.1002/pbc.21050

Cited by 17 publications

(6 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Patients with Ollier disease and Maffucci syndrome have a significant risk of developing a second unrelated cancer 17, the most common of which is glioma 23–33. Although less common, there are also reports of patients with Ollier disease who develop acute myeloid leukaemia (AML) 34–36. It is also of interest that an IDH1 R132C mutation has recently been detected at the Wellcome Trust Sanger Institute in the HT1080 cell line, described originally as deriving from a fibrosarcoma of bone 37.…”

Section: Introductionmentioning

confidence: 99%

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

Amary

Bacsi

Maggiani

et al. 2011

The Journal of Pathology

884

670

View full text Add to dashboard Cite

Somatic mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 occur in gliomas and acute myeloid leukaemia (AML). Since patients with multiple enchondromas have occasionally been reported to have these conditions, we hypothesized that the same mutations would occur in cartilaginous neoplasms. Approximately 1200 mesenchymal tumours, including 220 cartilaginous tumours, 222 osteosarcomas and another ∼750 bone and soft tissue tumours, were screened for IDH1 R132 mutations, using Sequenom(®) mass spectrometry. Cartilaginous tumours and chondroblastic osteosarcomas, wild-type for IDH1 R132, were analysed for IDH2 (R172, R140) mutations. Validation was performed by capillary sequencing and restriction enzyme digestion. Heterozygous somatic IDH1/IDH2 mutations, which result in the production of a potential oncometabolite, 2-hydroxyglutarate, were only detected in central and periosteal cartilaginous tumours, and were found in at least 56% of these, ∼40% of which were represented by R132C. IDH1 R132H mutations were confirmed by immunoreactivity for this mutant allele. The ratio of IDH1:IDH2 mutation was 10.6 : 1. No IDH2 R140 mutations were detected. Mutations were detected in enchondromas through to conventional central and dedifferentiated chondrosarcomas, in patients with both solitary and multiple neoplasms. No germline mutations were detected. No mutations were detected in peripheral chondrosarcomas and osteochondromas. In conclusion, IDH1 and IDH2 mutations represent the first common genetic abnormalities to be identified in conventional central and periosteal cartilaginous tumours. As in gliomas and AML, the mutations appear to occur early in tumourigenesis. We speculate that a mosaic pattern of IDH-mutation-bearing cells explains the reports of diverse tumours (gliomas, AML, multiple cartilaginous neoplasms, haemangiomas) occurring in the same patient.

show abstract

Section: Introductionmentioning

confidence: 99%

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

Amary

Bacsi

Maggiani

et al. 2011

The Journal of Pathology

884

670

View full text Add to dashboard Cite

show abstract

“…Cardiovascular diseases are the main cause of death in the world; the majority of fatal events are myocardial infarctions (MI) and the resulting heart failure [1]. Acute myocardial infarction is due to a myocardial necrotic event caused by an unstable ischemic syndrome [2], with blockage or occlusion of the coronary artery [3]. As a consequence of this dramatic event, a portion of myocardial tissue undergoes a process of adverse changes that consist of left ventricular (LV) remodeling.…”

Section: Introductionmentioning

confidence: 99%

Lyotropic Liquid Crystals: A Biocompatible and Safe Material for Local Cardiac Application

et al. 2022

View full text Add to dashboard Cite

The regeneration of cardiac tissue is a multidisciplinary research field aiming to improve the health condition of the post-heart attack patient. Indeed, myocardial tissue has a poor ability to self-regenerate after severe damage. The scientific efforts focused on the research of a biomaterial able to adapt to heart tissue, thus guaranteeing the in situ release of active substances or growth promoters. Many types of hydrogels were proposed for this purpose, showing several limitations. The aim of this study was to suggest a new usage for glyceryl monooleate-based lyotropic liquid crystals (LLCs) as a biocompatible and inert material for a myocardial application. The main advantages of LLCs are mainly related to their easy in situ injection as lamellar phase and their instant in situ transition in the cubic phase. In vivo studies proved the biocompatibility and the inertia of LLCs after their application on the myocardial tissue of mice. In detail, the cardiac activity was monitored through 28 days, and no significant alterations were recorded in the heart anatomy and functionality. Moreover, gross anatomy showed the ability of LLCs to be bio-degraded in a suitable time frame. Overall, these results permitted us to suppose a potential use of LLCs as materials for cardiac drug delivery.

show abstract

“…Multiple enchondromatosis is a rare heterogeneous skeletal disease, which can be divided into six subtypes as follows: Ollier disease, Maffucci syndrome, metaphyseal chondromatosis, metatarsal chondromatosis, spinal interstitial chondrodysplasia and spinal interstitial chondromatosis (6). Over the years, it has been reported that Ollier disease may be associated with pelvic diseases, hematological diseases, gliomas of the skull base, pancreatic cancer and other diseases (7)(8)(9)(10)(11)(12)(13)(14), and this has guided clinicians in the diagnosis of patients who may have Ollier disease. However, attention should be paid to lesions of the nervous system (15), digestive system (16) and blood system.…”

Section: Discussionmentioning

confidence: 99%

Ollier disease: A case report and literature review

Wang

2021

World Acad Sci J

View full text Add to dashboard Cite

Ollier disease, also known as multiple enchondromatosis, is a rare congenital disease of unknown etiology. The main manifestation of this disease is a non-ossifying chondrocyte mass or hamartomatous growth of a chondrocyte in the metaphysis. A few cases can develop into chondrosarcoma or osteosarcoma. The present study describes the case of a 37-year-old male patient with left hip pain and dyskinesia diagnosed with Ollier disease, according to clinical features and findings of imaging analysis. In general, the incidence of Ollier disease is low, and thus, it is not well-known among orthopedic surgeons. However, due to its malignant transformation rate, medical practitioners should encourage patients to undergo regular follow-up examinations. In an aim to provide some insight into this disease, the present study begins by describing the case of an affected patient case and subsequently presents a review of the relevant literature in order to guide the clinical diagnosis and treatment of the disease.

show abstract

Acute myelogenous leukemia associated with Ollier disease

Cited by 17 publications

References 11 publications

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

Lyotropic Liquid Crystals: A Biocompatible and Safe Material for Local Cardiac Application

Ollier disease: A case report and literature review

Contact Info

Product

Resources

About