OMIA:002526-9685 : Enteropathy-associated T cell lymphoma, inducer of in Felis catus (domestic cat)

Categories: Neoplasm

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.

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

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.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002526-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.

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  • Created by Imke Tammen2 on 03 Feb 2022
  • Changed by Imke Tammen2 on 27 May 2023