OMIA:001513-9823 : Leukaemia, chronic myelogenous in Sus scrofa (pig)

In other species: dog

Categories: Neoplasm , Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 151410 (gene) , 189980 (gene) , 608232 (trait)

Mendelian trait/disorder: no

Mode of inheritance: Somatic mutation

Considered a defect: yes

Key variant known: no

Key variant is published: no

Cross-species summary: Chronic myelogenous leukemia (CML) is a clonal proliferative disorder of a pluripotent stem cell (of myeloid, megakaryocyte, and erythroid and lymphoid lineages) with a specific cytogenetic abnormality. In humans, the disease is most frequently caused by a translocation between chromosomes 22 and 9, resulting in the fusion of the Abelson murine leukemia oncogene (ABL1) with the breakpoint cluster region (BCR). The resulting BCR/ABL fusion gene encodes a tyrosine kinase.

Species-specific name: Leukemia, chronic myeloid

Species-specific symbol: CML

Inheritance: Takawira et al. (2020) report "the presence of the BCR/ABL mutation and document progression of chronic myelogenous (basophilic) leukemia from a chronic phase to a terminal blast crisis in an adult Yucatan barrow. The natural occurrence and progression of CML associated with the BCR/ABL mutation in miniature swine establishes potential for future porcine models of human CML. The information also establishes a genetic test to confirm porcine CML to prevent inadvertent attribution of clinical signs to treatment complications during preclinical testing."

Genetic testing: Takawira et al. (2020) designed primers from the human forward ABL and reverse BCR sequences and conducted real-time quantitative PCR using reverse transcribed RNA as template. The BCR/ABL fusion gene was expressed at detectable levels only in the affected pig.

Breed: Yucatan Miniature, United States of America (Pig) (VBO_0013234).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
BCR breakpoint cluster region Sus scrofa 14 NC_010456.5 (49208662..49322109) BCR Homologene, Ensembl , NCBI gene
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase Sus scrofa 1 NC_010443.5 (270761641..270906708) ABL1 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001513-9823: 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.

2020 Takawira, C., Arsuaga-Zorrilla, C.B., Wilson, L., Taguchi, T., Dietrich, M.A., Stout, R.W., Lopez, M.J. :
Association of chronic myelogenous (basophilic) leukemia and the BCR/ABL mutation in a Yucatan barrow (<i>Sus scrofa domestica</i>). Front Vet Sci 7:575199, 2020. Pubmed reference: 33251261. DOI: 10.3389/fvets.2020.575199.
2017 Powell, E.J., Graham, J., Ellinwood, N.M., Hostetter, J., Yaeger, M., Ho, C.S., Gault, L., Norlin, V., Snella, E.N., Jens, J., Waide, E.H., Boettcher, A.N., Kerrigan, M., Rowland, R.R.R., Ross, J.W., Dekkers, J.C.M., Tuggle, C.K. :
T cell lymphoma and leukemia in severe combined immunodeficiency pigs following bone marrow transplantation: A case report. Front Immunol 8:813, 2017. Pubmed reference: 28747915. DOI: 10.3389/fimmu.2017.00813.
2015 Duran-Struuck, R., Matar, A.J., Huang, C.A. :
Myeloid leukemias and virally induced lymphomas in miniature inbred swine: Development of a large animal tumor model. Front Genet 6:332, 2015. Pubmed reference: 26635868. DOI: 10.3389/fgene.2015.00332.
2010 Duran-Struuck, R., Cho, P.S., Teague, A.G., Fishman, B., Fishman, A.S., Hanekamp, J.S., Moran, S.G., Wikiel, K.J., Ferguson, K.K., Lo, D.P., Duggan, M., Arn, J.S., Billiter, B., Horner, B., Houser, S., Yeap, B.Y., Westmoreland, S.V., Spitzer, T.R., McMorrow, I.M., Sachs, D.H., Bronson, R.T., Huang, C.A. :
Myelogenous leukemia in adult inbred MHC-defined miniature swine: a model for human myeloid leukemias. Vet Immunol Immunopathol 135:243-56, 2010. Pubmed reference: 20079939. DOI: 10.1016/j.vetimm.2009.12.005.
2007 Rafferty, A.L., Collett, M.G., Forsyth, S.F., Neumann, E.J., Suepaul, R.B. :
Acute B-cell lymphoblastic leukaemia in a 5-month-old boar. N Z Vet J 55:244-7, 2007. Pubmed reference: 17928902. DOI: 10.1080/00480169.2007.36776.
2006 Sipos, W., Gerner, W., Schilcher, F., Leeb, C., Groiss, S., Miller, I., Saalm├╝ller, A., Schmoll, F., Schwendenwein, I. :
Immunophenotypic characterization of peripheral blast cells in a leukemic miniature pig. Vet Pathol 43:362-7, 2006. Pubmed reference: 16672585. DOI: 10.1354/vp.43-3-362.
1987 Kadota, K., Akutsu, H., Saito, M., Kudo, T., Gotoh, K. :
Ultrastructure of swine myelogenous leukaemic cells, with particular reference to intracytoplasmic granules. J Comp Pathol 97:401-6, 1987. Pubmed reference: 3478353. DOI: 10.1016/0021-9975(87)90018-1.
Marcato, P.S. :
Swine lymphoid and myeloid neoplasms in Italy. Vet Res Commun 11:325-37, 1987. Pubmed reference: 3314113. DOI: 10.1007/BF00346191.
1969 Migaki, G. :
Hematopoietic neoplasms of slaughter animals. Natl Cancer Inst Monogr 32:121-51, 1969. Pubmed reference: 4981714.

Edit History

  • Created by Imke Tammen2 on 08 Dec 2020
  • Changed by Imke Tammen2 on 08 Dec 2020
  • Changed by Frank Nicholas on 10 Dec 2020
  • Changed by Imke Tammen2 on 23 Feb 2021