OMIA:002171-9615 : Ameloblastoma in Canis lupus familiaris (dog)

In other species: domestic cat

Categories: Neoplasm

Possibly relevant human trait(s) and/or gene(s) (MIM number): 190020 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Mode of inheritance: Somatic mutation

Considered a defect: yes

Species-specific name: Canine acanthomatous ameloblastomas (CAA)

Molecular basis: Saffari et al 2019: "By whole-exome sequencing, we have now discovered recurrent HRAS and BRAF activating mutations, respectively, in 63% and 8% of CAA. ... Strikingly, 11 of the 20 (55%) CAA cases carried activating HRAS mutations (10 HRAS-Q61R and 1 HRAS-G13R), and 2 of the 20 (10%) carried activating BRAF mutations (BRAF-V595E, orthologous to the human BRAF-V600E driver mutation) ... . Notably, cell lines derived from CAA with HRAS mutation exhibit marked sensitivity to MAP kinase (MAPK) pathway inhibitors, which constrain cell proliferation and drive ameloblast differentiation." Peralta et al. (2019) "aimed at characterizing the mutational status of SMO, BRAF, HRAS, KRAS, NRAS and FGFR2 in CAA, we used RNA sequencing, Sanger sequencing and restriction fragment length polymorphism assays to demonstrate that 94% of CAA (n = 16) harbour a somatic HRAS p.Q61R mutation." IT IS IMPORTANT TO NOTE THAT THESE ARE UNDERSTOOD TO BE A SOMATIC MUTATIONS, WHICH MEANS THAT THE VARIANTS ARE NOT INHERITED AND WILL NOT BE PASSED ON TO OFFSPRING

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
HRAS Harvey rat sarcoma viral oncogene homolog Canis lupus familiaris 18 NC_051822.1 (26230043..26227144) HRAS Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002171-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Feigin, K., Bell, C. :
Desmoplastic histological subtype of ameloblastoma in 16 dogs. Front Vet Sci 11:1362237, 2024. Pubmed reference: 38638641. DOI: 10.3389/fvets.2024.1362237.
2023 Masoud, N.S., Iwaide, S., Itoh, Y., Hisada, M., Harada, T., Murakami, T. :
Identification of ameloblastin as an amyloid precursor protein of amyloid-producing ameloblastoma in dogs and cats. Vet Sci 10, 2023. Pubmed reference: 36851470. DOI: 10.3390/vetsci10020166.
Peralta, S., Marcinczyk, M.M., Katt, W.P., Duhamel, G.E. :
Confirmation of canine acanthomatous ameloblastoma using RAS Q61R immunohistochemical staining of formalin-fixed paraffin-embedded tissues. Front Vet Sci 10:1281022, 2023. Pubmed reference: 37901104. DOI: 10.3389/fvets.2023.1281022.
2019 Peralta, S., McCleary-Wheeler, A.L., Duhamel, G.E., Heikinheimo, K., Grenier, J.K. :
Ultra-frequent HRAS p.Q61R somatic mutation in canine acanthomatous ameloblastoma reveals pathogenic similarities with human ameloblastoma. Vet Comp Oncol 17:439-445, 2019. Pubmed reference: 31041834. DOI: 10.1111/vco.12487.
Saffari, P.S., Vapniarsky, N., Pollack, A.S., Gong, X., Vennam, S., Pollack, A.J., Verstraete, F.J.M., West, R.B., Arzi, B., Pollack, J.R. :
Most canine ameloblastomas harbor HRAS mutations, providing a novel large-animal model of RAS-driven cancer. Oncogenesis 8:11, 2019. Pubmed reference: 30741938. DOI: 10.1038/s41389-019-0119-1.

Edit History

  • Created by Frank Nicholas on 27 Feb 2019
  • Changed by Frank Nicholas on 27 Feb 2019
  • Changed by Imke Tammen2 on 25 Aug 2021
  • Changed by Imke Tammen2 on 03 Feb 2022