Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management

Hameetman, Liesbeth; Bovée, Judith V.G.M.; Taminiau, A. H. M.; Kroon, Herman M.; Hogendoorn, Pancras C.W.

doi:10.1186/1897-4287-2-4-161

Cited by 69 publications

(61 citation statements)

References 98 publications

(127 reference statements)

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“…O crescimento das lesões cessa com a maturidade óssea (Hameetman et al, 2004, Withrow et al, 2013. Entretanto, são relatados casos atípicos, em que o surgimento das lesões que ocorrem após a maturidade óssea.…”

Section: Discussionunclassified

“…A exostose cartilaginosa múltipla é um distúrbio do desenvolvimento ósseo que acomete animais jovens (Hameetman et al, 2004, Withrow et al, 2013 de diversas espécies e pode causar sinais clínicos, como dor e perda ou alteração da função das estruturas adjacentes, além de poder sofrer transformação maligna (Gambardella et al, 1975, Vanel et al, 2013, Withrow et al, 2013, Andersson, 2009.…”

Section: Introductionunclassified

“…A real incidência da ECM em cães é de difícil determinação (Withrow et al, 2013), mas sabe-se que a incidência em humanos é de 1:50.000 (Fletcher, 2002, Hameetman et al, 2004. Considerando características tais como raça, idade e local de origem dos pacientes apresentados, associadas à ocorrência, em ambos, de uma doença de baixa incidência e de provável caráter hereditário em cães, presume-se, então, que os dois animais possuam a mesma origem familiar.…”

Section: Introductionunclassified

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Multiple cartilaginous exostosis: Case report

Dias¹,

Cavalcanti²,

Pereira³

2017

Pubvet

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RESUMO.Foram atendidos dois cães da raça Teckel, ambos com histórico de dificuldade de locomoção e perda de propriocepção, sem alterações nos exames hemáticos. O primeiro cão, uma fêmea, de quatro meses de idade, apresentou ao exame radiográfico presença de massa radiopaca na metáfise distal do fêmur proximal e distal, da tíbia e proximal da fíbula esquerda; além de estruturas semelhantes nos processos espinhosos de T3, T6 e T7 e na terceira costela direita, projetando-se para o interior da cavidade torácica. O segundo cão, um macho de 6 meses de idade, apresentou massas ósseas nodulares no ísquio e ílio, e nas metáfises proximais de ambas as tíbias e distal da tíbia direita, além de alterações idênticas nas costelas, projetando-se, tanto para a superfície externa quanto interna do tórax. Portanto, após a análise radiográfica foi diagnosticado Exostose Cartilaginosa Múltipla (ECM), uma doença caracterizada por projeções ósseas recobertas por cartilagem. Adotouse como medida terapêutica o uso de tramadol e o acompanhamento da evolução da doença. Palavras chave: Nódulo ósseo, osteocondroma, proliferação óssea Multiple cartilaginous exostosis: Case reportABSTRACT. This article reports the care of two dogs from Teckel race, both with a history of limited mobility and loss of proprioception, no changes in hematic tests. The first dog, a female, 4 months old, had to take radiographic presence of radiopaque mass at the distal femoral metaphysis, proximal and distal tibia and the proximal left fibula, and similar structures at the spinous processes of T3, T6 and T7 and the third right rib, protruding into the chest cavity. The second dog, a male 6 months old, had nodular bone mass in the ischium and ilium, and proximal metaphysis of tibiae and distal right tibia, as well as similar changes in the ribs protruding both to the surface external and internal chest. Therefore, after the X-ray analysis was diagnosed multiple cartilaginous exostosis (ECM), a disease characterized by bone projections covered with cartilage. It was adopted as a therapeutic measure the use of tramadol and the monitoring of disease progression.

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Section: Discussionunclassified

Section: Introductionunclassified

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Multiple cartilaginous exostosis: Case report

Dias¹,

Cavalcanti²,

Pereira³

2017

Pubvet

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“…With the currently used methods it is possible to detect point mutations or gross deletions in almost 90% of MO patients [21][22][23][61][62][63].…”

Section: Diagnostic Methodsmentioning

confidence: 99%

“…Given the specific radiological and histological expertise needed, and the rarity of the disorder and of those in the differential diagnosis, it is recommended that this review is performed by specialists in the field, for instance through a national bone tumour registry consisting of clinicians, radiologists and pathologists. If this review is indicative for MO, the peripheral blood of the patient may be screened for germline mutations in EXT1 or EXT2 [61].…”

Section: Diagnostic Methodsmentioning

confidence: 99%

Multiple Osteochondromas

Encyclopedia of Cancer

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Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated at 1:50,000, and it seems to be higher in males (male-to-female ratio 1.5:1). Osteochondromas develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. They are pedunculated or sessile (broad base) and can vary widely in size. The number of osteochondromas may vary significantly within and between families, the mean number of locations is 15-18. The majority are asymptomatic and located in bones that develop from cartilage, especially the long bones of the extremities, predominantly around the knee. The facial bones are not affected. Osteochondromas may cause pain, functional problems and deformities, especially of the forearm, that may be reason for surgical removal. The most important complication is malignant transformation of osteochondroma towards secondary peripheral chondrosarcoma, which is estimated to occur in 0.5-5%. MO is an autosomal dominant disorder and is genetically heterogeneous. In almost 90% of MO patients germline mutations in the tumour suppressor genes EXT1 or EXT2 are found. The EXT genes encode glycosyltransferases, catalyzing heparan sulphate polymerization. The diagnosis is based on radiological and clinical documentation, supplemented with, if available, histological evaluation of osteochondromas. If the exact mutation is known antenatal diagnosis is technically possible. MO should be distinguished from metachondromatosis, dysplasia epiphysealis hemimelica and Ollier disease. Osteochondromas are benign lesions and do not affect life expectancy. Management includes removal of osteochondromas when they give complaints. Removed osteochondromas should be examined for malignant transformation towards secondary peripheral chondrosarcoma. Patients should be well instructed and regular follow-up for early detection of malignancy seems justified. For secondary peripheral chondrosarcoma, en-bloc resection of the lesion and its pseudocapsule with tumour-free margins, preferably in a bone tumour referral centre, should be performed.

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The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

Mordenti

Gnoli

Boarini

et al. 2021

American J of Med Genetics Pt A

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Multiple osteochondromas (MO) is a rare disorder, characterized by benign osteocartilaginous tumors (osteochondromas), arising from the perichondrium of bones. The osteochondromas increase during growth, frequently causing deformities and limitations. Our study aims to analyze the data captured by the Registry of Multiple Osteochondromas, to refine Istituto Ortopedico Rizzoli (IOR) Classification, providing a representative picture of the phenotypic manifestations throughout the lifespan. We conducted a single‐institution cross‐sectional study. Patients were categorized according to IOR Classification, which identifies three patients' classes on the presence/absence of deformities and/or limitations. The present dataset was compared with our previously published data, to refine the classification. Nine hundred sixty‐eight patients were included: 243 children (<10 years), 136 adolescents (10–15 years), and 589 adults. Of the entire population, half patients presented at least one deformity, and one quarter reported at least one limitation. Compared with our previous study, the amount of children was more than doubled and the percentage of mild/moderate cases was notably increased, giving a better disease overview throughout the lifespan and suggesting a different cut‐off for dividing Class II in subclasses. We confirmed that MO is characterized by phenotypic heterogeneity, suggesting that an early classification of the disease may offer a useful tool to follow disease pattern and evolution, to support clinical practice, and to propose timely interventions.

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Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management

Cited by 69 publications

References 98 publications

Multiple cartilaginous exostosis: Case report

Multiple cartilaginous exostosis: Case report

Multiple Osteochondromas

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice

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