OMIA:002526-9685 : Enteropathy-associated T cell lymphoma, inducer of in Felis catus
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 604260 (gene) , 102578 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Somatic mutation
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Species-specific name: feline alimentary T cell lymphoma; epitheliotropic intestinal T-Cell lymphomas
Species-specific symbol: EATL
Species-specific description: Kieslinger et al. (2021): "Analysis of 42 samples of feline T cell alimentary lymphoma reveals broad activation of STAT3 and STAT5B. Screening for known activating mutations in STAT3 or STAT5B identifies the presence of the STAT5B^N642H driver mutation in feline enteropathy-associated T cell lymphoma in 7 out of 42 (16.67%) samples in total. Regarding lymphoma subtypes, the majority of mutations with 5 out of 17 (29.41%) cases were found in feline enteropathy-associated lymphoma type II (EATL II)."
IT IS IMPORTANT TO NOTE THAT THIS IS UNDERSTOOD TO BE A SOMATIC MUTATION, WHICH MEANS THAT THE VARIANT IS NOT INHERITED AND WILL NOT BE PASSED ON TO OFFSPRING.
Clinical features: A cat with EATL may present with a history of reduced or increased appetite, vomiting, lethargy, diarrhoea, constipation, and weight loss. Weight loss related to muscle wasting is the most common sign (Marsilio et al., 2023). The clinical findings in these cats may include abdominal pain or discomfort, muscle loss, diffusely thickened intestinal walls, enlarged mesenteric lymph nodes or masses within the abdomen. Clinical signs may be minimal or absent (Marsilio et al., 2023). IT thanks DVM student Lily Harford Sherringham, who provided the basis of this contribution in May 2023.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|STAT5B||signal transducer and activator of transcription 5B||Felis catus||E1||NC_058381.1 (40929732..40858676)||STAT5B||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1425||Alimentary lymphoma, inducer of||STAT5B||missense||Naturally occurring variant||Felis_catus_9.0||E1||g.42844462T>G||c.1924A>C||p.(N642H)||XP_023100377.1; XM_023244609.1; SOMATIC MUTATION||2021||34680385|
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.
|2023||Marsilio, S., Freiche, V., Johnson, E., Leo, C., Langerak, A.W., Peters, I., Ackermann, M.R. :|
|ACVIM consensus statement guidelines on diagnosing and distinguishing low-grade neoplastic from inflammatory lymphocytic chronic enteropathies in cats. J Vet Intern Med :, 2023. Pubmed reference: 37130034 . DOI: 10.1111/jvim.16690.|
|2022||Rebollada-Merino, A., Porras, N., Calvo-Ibbitson, A., Rodríguez-Franco, F., Rodríguez-Bertos, A. :|
|Bcl-2 Immunoexpression in Feline Epitheliotropic Intestinal T-Cell Lymphomas. Vet Sci 9:, 2022. Pubmed reference: 35448666 . DOI: 10.3390/vetsci9040168.|
|2021||Kieslinger, M., Swoboda, A., Kramer, N., Freund, P., Pratscher, B., Neubauer, H.A., Steinborn, R., Wolfesberger, B., Fuchs-Baumgartinger, A., Moriggl, R., Burgener, I.A. :|
|A recurrent STAT5B^N642H driver mutation in feline alimentary T cell lymphoma. Cancers (Basel) 13:, 2021. Pubmed reference: 34680385 . DOI: 10.3390/cancers13205238.|
|Marsilio, S., Dröes, F.C., Dangott, L., Chow, B., Hill, S., Ackermann, M., Estep, J.S., Lidbury, J.A., Suchodolski, J.S., Steiner, J.M. :|
|Characterization of the intestinal mucosal proteome in cats with inflammatory bowel disease and alimentary small cell lymphoma. J Vet Intern Med 35:179-189, 2021. Pubmed reference: 33471936 . DOI: 10.1111/jvim.16003.|
|2012||Barrs, V.R., Beatty, J.A. :|
|Feline alimentary lymphoma: 1. Classification, risk factors, clinical signs and non-invasive diagnostics. J Feline Med Surg 14:182-90, 2012. Pubmed reference: 22370860 . DOI: 10.1177/1098612X12439265.|
|Moore, P.F., Rodriguez-Bertos, A., Kass, P.H. :|
|Feline gastrointestinal lymphoma: mucosal architecture, immunophenotype, and molecular clonality. Vet Pathol 49:658-68, 2012. Pubmed reference: 21505197 . DOI: 10.1177/0300985811404712.|
|2009||Lingard, A.E., Briscoe, K., Beatty, J.A., Moore, A.S., Crowley, A.M., Krockenberger, M., Churcher, R.K., Canfield, P.J., Barrs, V.R. :|
|Low-grade alimentary lymphoma: clinicopathological findings and response to treatment in 17 cases. J Feline Med Surg 11:692-700, 2009. Pubmed reference: 19576832 . DOI: 10.1016/j.jfms.2009.05.021.|
- Created by Imke Tammen2 on 03 Feb 2022
- Changed by Imke Tammen2 on 27 May 2023