Hereditary multiple exostosis. A comparative human-equine-epidemiologic study.
Abstract: Hereditary multiple exostosis (HME), a bone tumor first described by Virchow, has been studied over a period of 15 years on a comparative basis. The horse, an excellent biomedical model for this physically deforming multiple bone tumor in man, has been utilized in this study. The etiology, hereditary pattern, potential for malignancy and other aspects of this strange affliction need additional clarification. This in-depth study of 261 individuals from 144 families was compared with that of 55 horses bearing the HME trait, selectively bred and studied over the same period. Important information has been collected and evaluated about this condition that is suspect of being frequently missed diagnostically, with a higher incidence in humans that recognized. Continuing development studies of offspring of the original study participants; sarcomatous transformation monitoring; and recently developed genetic techniques should add to our understanding of this puzzling hereditary condition.
Publication Date: 1987-05-01 PubMed ID: 3497190DOI: 10.1093/oxfordjournals.jhered.a110351Google Scholar: Lookup
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- Comparative Study
- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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This research article is about a long-term comparative study of Hereditary Multiple Exostosis (HME), a type of bone tumor in humans and horses, seeking to provide further understanding of its etiology, genetic pattern, and potential for malignancy.
Background and Aim
- Hereditary multiple exostosis (HME) is a type of bone tumor first detailed by Virchow. This study aims to investigate HME in a comparative human-equine structure, hoping to contribute to the understanding of HME’s etiology (cause), hereditary pattern, potential for malignancy, and other characteristics of this condition.
Methodology
- The research was conducted over a 15 year period, featuring an in-depth examination of 261 individuals from 144 families, as compared to 55 horses selectively bred to present the HME trait.
- These horses served as models for the study since they represent an excellent biomedical model for analyzing this physically deforming multiple bone tumors in comparison to human subjects.
Findings
- Throughout the research period, important information relating to HME was collected and analyzed. The data revealed that this condition is frequently overlooked during diagnosis, suggesting that its incidence in humans may be higher than currently recorded.
Future Directions
- Further research avenues include monitoring the offspring of the original study participants to track the development and inheritance patterns of HME.
- Performance of sarcomatous transformation monitoring. Sarcomatous transformation refers to a process where benign (non-cancerous) cells transform into sarcoma (cancerous) cells.
- The utilization of recently developed genetic techniques, which could shed more light on the puzzling hereditary patterns of HME.
Cite This Article
APA
Leone NC, Shupe JL, Gardner EJ, Millar EA, Olson AE, Phillips EC.
(1987).
Hereditary multiple exostosis. A comparative human-equine-epidemiologic study.
J Hered, 78(3), 171-177.
https://doi.org/10.1093/oxfordjournals.jhered.a110351 Publication
Researcher Affiliations
MeSH Terms
- Abnormalities, Multiple / genetics
- Animals
- Bone Neoplasms / genetics
- Bone Neoplasms / veterinary
- Exostoses, Multiple Hereditary / genetics
- Exostoses, Multiple Hereditary / pathology
- Exostoses, Multiple Hereditary / veterinary
- Female
- Genes, Dominant
- Horse Diseases / genetics
- Horses
- Humans
- Male
- Pedigree
- Precancerous Conditions / genetics
- Precancerous Conditions / pathology
- Precancerous Conditions / veterinary
- Species Specificity
- Speech Disorders / genetics
Citations
This article has been cited 8 times.- Szilasi A, Koltai Z, Dénes L, Balka G, Mándoki M. In Situ Hybridization of Feline Leukemia Virus in a Case of Osteochondromatosis. Vet Sci 2022 Jan 31;9(2).
- Kierdorf U, Miller KV, Flohr S, Gomez S, Kierdorf H. Multiple osteochondromas of the antlers and cranium in a free-ranging white-tailed deer (Odocoileus virginianus). PLoS One 2017;12(3):e0173775.
- Ohkuma R, McCarthy EF, Deune EG. Hereditary multiple exostoses in the hands and fingers: early presentation and early surgical treatment in family members. Case reports. Hand (N Y) 2011 Jun;6(2):209-16.
- Abdullah F, Kanard R, Femino D, Ford H, Stein J. Osteochondroma causing diaphragmatic rupture and bowel obstruction in a 14-year-old boy. Pediatr Surg Int 2006 Apr;22(4):401-3.
- McCormick C, Duncan G, Goutsos KT, Tufaro F. The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A 2000 Jan 18;97(2):668-73.
- Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G. Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet 1993 Jul;53(1):71-9.
- Hennekam RC. Hereditary multiple exostoses. J Med Genet 1991 Apr;28(4):262-6.
- Hamann G, Zankl M, Schimrigk K, Kloss R. Spastic disorder in patients with hereditary multiple exostoses, but without spinal cord compression: a new syndrome?. J Med Genet 1992 Jul;29(7):494-6.
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