Chondrosarcoma in a family with multiple hereditary exostoses

Kivioja, Aarne; Ervasti, H.; Kinnunen, J.; Kaitila, Ilkka; Wolf, Maija; Böhling, Tom

doi:10.1302/0301-620x.82b2.0820261

Cited by 36 publications

(59 citation statements)

References 24 publications

(23 reference statements)

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“…This is more than 6 years earlier than the cohort of Goud et al [4], who experienced malignant transformation at a mean age of 35 years [4]. Smaller cohorts in previous studies had mean ages at the time of malignant change of 31 and 39 years [7,9]. The younger age of patients in our cohort at the time of change may be attributable to the aforementioned bias toward patients with more serious disease to complete the survey.…”

Section: Discussionmentioning

confidence: 62%

“…Perhaps the most important complication of the benign lesions that are the hallmark of multiple hereditary exostoses is their malignant transformation to chondrosarcoma. Numerous studies have reported proportions from less than 1% to 25% for malignant degeneration of a benign exostosis to chondrosarcoma in patients who have multiple hereditary exostoses [3,4,[7][8][9][11][12][13][14]. In general, malignant transformation is rare and the true incidence has (1), and South Korea (1).…”

Section: Discussionmentioning

confidence: 99%

“…Although they can appear at any location associated with a physis, the lesions typically occur at the arm, forearm, thigh, and leg. They also commonly are found about the pelvis and shoulder [7,9]. Patients often report problems resulting from compression or irritation of local tissues, deformation of joints, or limb-length discrepancies.…”

Section: Introductionmentioning

confidence: 99%

“…Previous studies have shown a wide range in the numbers of patients with multiple hereditary exostoses who have had malignant change to chondrosarcoma, and these studies [3,7,8,[12][13][14] cite proportions derived from smaller population clusters in seemingly isolated geographic areas. Historically, reported proportions of transformation have ranged from less than 1% to approximately 25% [3,4,[7][8][9][11][12][13][14]. Some of the larger studies we are aware of include rates of 4.9% in 529 patients [11], 0.38% in 526 patients [8], and 7% in 184 patients [4].…”

Section: Introductionmentioning

confidence: 99%

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What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?

Czajka

DiCaprio

2015

Clinical Orthopaedics &Amp; Related Research

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Background Multiple hereditary exostoses is an autosomal-dominant skeletal disorder that has a wide-ranging reported risk of malignant degeneration to chondrosarcoma. Questions/purposes The aims of our study were to use a large, web-based survey approach to characterize (1) the demographic distribution of patients with multiple hereditary exostoses, (2) the number of surgeries performed related to one's diagnosis of multiple hereditary exostoses, and (3) the proportion of survey respondents who described experiencing malignant degeneration in a large international, heterogeneous cohort of patients with multiple hereditary exostoses. Methods An anonymous web-based survey was distributed to several online support groups and social media networks designed to support and educate patients with multiple hereditary exostoses and their families. The survey collected demographic and epidemiologic data on 779 respondents. Data were recorded to assess respondents' disease burden and the rate of malignant degeneration.

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Section: Discussionmentioning

confidence: 62%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?

Czajka

DiCaprio

2015

Clinical Orthopaedics &Amp; Related Research

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“…Many osteochondromas are asymptomatic; however, complications can involve bone, nerve, and soft tissues via mass effect or intrinsic change [1][2][3][4][5][6][7][8][9][10] (Fig 1).…”

Section: Introductionmentioning

confidence: 99%

Osteochondroma and Spinal Cord Compression in a Patient With Hereditary Multiple Exostoses: A Case Report

Zoboski

2017

Journal of Chiropractic Medicine

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Objective: The purpose of this report was to describe the presentation of a patient with hereditary multiple exostoses and thoracic spinal cord compression from an osteochondroma. Clinical Features: A 31-year-old female presented to a chiropractic clinic with a history of hereditary multiple exostoses and back pain that had existed since the age of 16 years. She had a past medical history that was remarkable for 3 prior surgeries for mass removal. Examination revealed a left upper midscapular mass with decreased sensation. Intervention/Outcome: Magnetic resonance imaging, computed tomography, and biopsy led to a diagnosis of osteochondroma. These diagnostic modalities confirmed that there was no malignant degeneration. Initial magnetic resonance imaging revealed a large expansive lesion involving the left posterior elements at the region of T3-T4. Subsequent thoracic hemilaminectomy and resection of the spinal tumor with posterior instrumentation and stabilization from T2-T5 resulted in 90% overall subjective improvement. Conclusions: A detailed case history, thorough examination, guided advanced imaging, and biopsy provide important information for the diagnosis and appropriate treatment of expansive lesions in patients with hereditary multiple exostoses. (J Chiropr Med 2017;16:72-77)

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Physiology and pathophysiology of the growth plate

Ballock

O’Keefe

2003

Birth Defects Research Pt C

126

109

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Longitudinal growth of the skeleton is a result of endochondral ossification that occurs at the growth plate. Through a sequential process of cell proliferation, extracellular matrix synthesis, cellular hypertrophy, matrix mineralization, vascular invasion, and eventually apoptosis, the cartilage model is continually replaced by bone as length increases. The regulation of longitudinal growth at the growth plate occurs generally through the intimate interaction of circulating systemic hormones and locally produced peptide growth factors, the net result of which is to trigger changes in gene expression by growth plate chondrocytes. This review highlights recent advances in genetics and cell biology that are illuminating the important regulatory mechanisms governing the structure and biology of the growth plate, and provides selected examples of how studies of human mutations have yielded a wealth of new knowledge regarding the normal biology and pathophysiology of growth plate cartilage.

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Chondrosarcoma in a family with multiple hereditary exostoses

Cited by 36 publications

References 24 publications

What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?

What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?

Osteochondroma and Spinal Cord Compression in a Patient With Hereditary Multiple Exostoses: A Case Report

Physiology and pathophysiology of the growth plate

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