Limbal squamous cell carcinoma in Haflinger horses.
Abstract: To describe the prevalence of LSCC in Haflinger horses and to analyze affected horses' pedigrees investigating the genetic mode of inheritance. Methods: Fifteen horses met inclusion criterion of (i) being of the Haflinger breed, as confirmed by North American Haflinger Registry pedigree and (ii) being diagnosed with LSCC, as confirmed by clinical examination by a veterinary ophthalmologist or by histopathology. Pedigrees could not be obtained for four additional horses diagnosed with LSCC that had been identified as Haflingers. Methods: Retrospective medical record review of all 19 horses was used to determine patient sex and age at diagnosis. The four-generation pedigrees available for 15 of the horses were used to perform pedigree analysis. Results: Average age of 19 Haflingers at diagnosis with LSCC was 8.7 years. Eleven were males and eight were females. Thirteen of 15 affected horses for whom pedigrees were available shared a common ancestor within five generations, and all 15 shared a common ancestor from the A stallion line in the breed pedigree. Pedigree analysis identified a common sire of two of the affected male horses. Clinical examination of this sire that had no history of LSCC showed no current clinical signs of LSCC, suggesting an autosomal recessive mode of inheritance. Conclusions: Haflingers may be over-represented amongst horses with LSCC and may be diagnosed at a younger age than other breeds. Affected Haflingers appear closely related, suggesting a possible heritable basis for LSCC. The genetic basis for LSCC will be investigated further by a GWAS approach.
© 2014 American College of Veterinary Ophthalmologists.
Publication Date: 2014-10-14 PubMed ID: 25312447DOI: 10.1111/vop.12229Google Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
- Breed Differences
- Clinical Examination
- Clinical Pathology
- Diagnosis
- Disease Diagnosis
- Disease Etiology
- Epidemiology
- Equine Diseases
- Equine Health
- Genetics
- Heritability
- Histopathology
- Horse Breeds
- Horses
- Inheritance Patterns
- Ophthalmology
- Pedigree
- Retrospective Study
- Squamous Cell Carcinoma
- Veterinary Medicine
- Veterinary Research
Summary
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The research article discusses the prevalence of Limbal Squamous Cell Carcinoma (LSCC) in the Haflinger breed of horses, and explores the potential genetic factors contributing to this breed’s susceptibility to LSCC.
Research Methodology
- The researchers studied a specific sample of 15 Haflinger horses, which had been diagnosed with LSCC. The affirmation of their breed was confirmed by the North American Haflinger Registry pedigree, and the diagnosis of LCCS was confirmed by a veterinary ophthalmologist or by histopathology.
- The research conducted a retrospective medical record review, focusing on the patient’s sex and age at diagnosis.
- For fifteen of the horses, a four-generation pedigree was available. The researchers used this information to analyze potential genetic inheritance patterns.
Research Findings
- The average age at diagnosis for the 19 Haflinger horses was 8.7 years, and the sample consisted of eleven males and eight females.
- Of the fifteen horses for which pedigrees were available, thirteen shared a common ancestor within five generations, and all fifteen were from the same ancestral A Stallion line.
- The researchers identified a common sire (male parental horse) for two of the affected horses. Despite this sire showing no signs or history of LSCC, the researchers proposed an autosomal recessive mode of inheritance.
Conclusions and Future Research
- The study findings suggest that Haflingers may be over-represented among horses with LSCC, and might receive a diagnosis at a younger age compared to other breeds.
- There appears to be a potential heritable basis for LSCC in Haflingers, given the close common ancestry among the affected horses.
- The researchers plan to further probe the LSCC genetic basis in Haflingers using a Genome-Wide Association Study (GWAS) approach. This process lends itself to identifying genetic variants in different individuals that are associated with a particular trait – in this case, susceptibility to LSCC.
Cite This Article
APA
Lassaline M, Cranford TL, Latimer CA, Bellone RR.
(2014).
Limbal squamous cell carcinoma in Haflinger horses.
Vet Ophthalmol, 18(5), 404-408.
https://doi.org/10.1111/vop.12229 Publication
Researcher Affiliations
- Department of Surgical & Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, CA, USA.
- Department of Pathology, Microbiology & Immunology, School of Medicine, University of South Carolina, Columbia, SC, USA.
- Rood & Riddle Equine Hospital, Lexington, KY, USA.
- Veterinary Genetics Laboratory, Department of Population Health and Reproduction, University of California-Davis, Davis, CA, USA.
MeSH Terms
- Animals
- Carcinoma, Squamous Cell / epidemiology
- Carcinoma, Squamous Cell / genetics
- Carcinoma, Squamous Cell / veterinary
- Eye Neoplasms / epidemiology
- Eye Neoplasms / genetics
- Eye Neoplasms / veterinary
- Female
- Horse Diseases / epidemiology
- Horse Diseases / genetics
- Horses / genetics
- Male
- Pedigree
- Prevalence
- Species Specificity
Citations
This article has been cited 10 times.- Miglinci L, Reicher P, Nell B, Koch M, Jindra C, Brandt S. Detection of Equine Papillomaviruses and Gamma-Herpesviruses in Equine Squamous Cell Carcinoma. Pathogens 2023 Jan 23;12(2).
- Drozdzewska K, Gehlen H. Markers for internal neoplasia in the horse. Vet Med Sci 2023 Jan;9(1):132-143.
- Strohmayer C, Klang A, Kummer S, Walter I, Jindra C, Weissenbacher-Lang C, Redmer T, Kneissl S, Brandt S. Tumor Cell Plasticity in Equine Papillomavirus-Positive Versus-Negative Squamous Cell Carcinoma of the Head and Neck. Pathogens 2022 Feb 18;11(2).
- Crausaz M, Launois T, Smith-Fleming K, McCoy AM, Knickelbein KE, Bellone RR. DDB2 Genetic Risk Factor for Ocular Squamous Cell Carcinoma Identified in Three Additional Horse Breeds. Genes (Basel) 2020 Dec 5;11(12).
- Chen L, Bellone RR, Wang Y, Singer-Berk M, Sugasawa K, Ford JM, Artandi SE. A novel DDB2 mutation causes defective recognition of UV-induced DNA damages and prevalent equine squamous cell carcinoma. DNA Repair (Amst) 2021 Jan;97:103022.
- Singer-Berk MH, Knickelbein KE, Lounsberry ZT, Crausaz M, Vig S, Joshi N, Britton M, Settles ML, Reilly CM, Bentley E, Nunnery C, Dwyer A, Lassaline ME, Bellone RR. Additional Evidence for DDB2 T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses. Int J Genomics 2019;2019:3610965.
- Jeanes EC, Koll-Hampp S, Dawson C, Dunkel B, Tetas Pont R. Rhomboid blepharoplasty and cryotherapy for the treatment of a squamous cell carcinoma on the lower eyelid in a horse. Clin Case Rep 2019 Jan;7(1):40-46.
- Schwarz S, Kummer S, Klang A, Walter I, Nell B, Brandt S. Detection of vasculogenic mimicry in equine ocular, oronasal, and genital squamous cell carcinoma. PLoS One 2026;21(1):e0328584.
- Quatember H, Nell B, Richter B, Rigler D, Dolezal M, Sykora S, Wallner B. Studying the Impact of the DDB2 T338M Missense Mutation on the Development of Equine Squamous Cell Carcinoma and Sarcoid. Animals (Basel) 2025 Mar 22;15(7).
- Martabano BB, Dow S, Chow L, Williams MMV, Mack MK, Bellone R, Wotman KL. Intralesional interferon alpha-2b as a novel treatment for periocular squamous cell carcinoma in horses. PLoS One 2024;19(2):e0297366.
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