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)

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 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.

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

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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

Reference


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.

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  • Created by Imke Tammen2 on 03 Feb 2022