Exome sequencing and SDH (A, B) immunohistochemistry of canine Pheochromocytomas

Autor: Firas M. Abed, Michael J. Dark
Jazyk: Arabic<br />English
Rok vydání: 2022
Předmět:
Zdroj: Iraqi Journal of Veterinary Sciences, Vol 36, Iss Supplement I, Pp 143-150 (2022)
Druh dokumentu: article
ISSN: 1607-3894
2071-1255
DOI: 10.33899/ijvs.2022.135825.2526
Popis: Pheochromocytomas (PCs) are tumors originating from the chromaffin cells of the adrenal medulla. In people, there are highly correlated to inherited gene mutations in the succinate dehydrogenase (SDH) pathway; however, to date, little work has been done on the genetic basis of these tumors in animals. Out of the total of 2.203 Gb of canine DNA sequenced, 88.35% of bases mapped to exons and 11.65% mapped to introns. Out of 26 genes of interest containing 404 exons, 278 exons were sequenced 68.81%. Sequencing was considered successful when the average read depth was 3x and the entire exon was covered. Coverage ranged from 30% to 100%. Both SDHA and SDHB had exon mapped 46.6% and 62.5% respectively. Additionally, out of 45 known canine variants, exome technique able to detect 36 variants (80%). We performed SDHA and SDHB immunohistochemistry on 35 canine formalin-fixed, paraffin embedded. Interestingly, we had loss of immunoreactivity for both SDHA and SDHB in four samples, suggesting a mutation in SDHx including SDHA. Out of 35 samples, 6 had immunoreactivity for SDHA and 25 lacked immunoreactivities for SDHB. 29 out of the 35 (82%) may have an SDH family mutation other than SDHA. Exome sequencing and immunohistochemistry are able to predict malignant behavior and likelihood of reduction of PCC/PGLs in humans. This can be used to determine whether there are similar mutations in the pseudo-hypoxic, kinase signaling, and other genes of interest exist in dogs, as well as finding novel genes involved in canine Pheochromocytomas oncogenesis.
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