{"id":1525268,"date":"2025-01-28T14:10:07","date_gmt":"2025-01-28T13:10:07","guid":{"rendered":"https:\/\/laboklin.com\/?p=1525268"},"modified":"2025-01-28T14:12:56","modified_gmt":"2025-01-28T13:12:56","slug":"braf-mutation-and-braf-comp-test-an-update","status":"publish","type":"post","link":"https:\/\/laboklin.com\/en\/braf-mutation-and-braf-comp-test-an-update\/","title":{"rendered":"BRAF mutation and BRAF comp. test \u2013 an update"},"content":{"rendered":"

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Urothelial and prostate carcinomas<\/h2>\n

Both urothelial carcinomas (UCa) of the urinary bladder and urethra and prostate carcinoma (PCa) in dogs are highly malignant neoplasms that are often diagnosed relatively late (e.g. by ultrasound Fig. 1a) and have a poor prognosis. By testing for the presence of the V595E mutation in the BRAF gene<\/strong>, diagnosis can be made early, even in urine sediment.<\/p>\n

NEW<\/strong> is a supplementary test that can be used if no BRAF mutation has been found and the sensitivity of the overall examination needs to be increased. This combined test is called BRAF comp<\/strong> at Laboklin.<\/p>\n

Both tests are presented here.<\/p>\n

 <\/p>\n

BRAFV595E<\/sup> mutation<\/h2>\n

The BRAF variant V595E, known from human medicine, was first investigated in 2015 by Mochizuki et al. in many canine tumours. In contrast to humans, in whom the mutation occurs primarily in malignant melanomas, ovarian tumours, thyroid and colorectal carcinomas, Mochizuki et al. (2015) found the mutation in dogs most frequently in urothelial and prostate carcinomas.<\/p>\n

The BRAFV595E<\/sup> mutation is a somatic mutation in chromosome 16 that can only be detected in tumour cells. This mutation leads to tumour development via permanent activation of the MAP kinase pathway.<\/p>\n

Indications<\/strong><\/p>\n

    \n
  • Testing for the presence of the BRAF<\/em>V595E<\/sup> mutation can be helpful for the following indications:<\/li>\n
  • Screening for early detection in predisposed breeds (see below)<\/li>\n
  • Invasive sampling should be avoided by analysing spontaneous urine (sediment).<\/li>\n
  • Repeated invasive sampling can be avoided in cases with questionable pathohistological and cytological diagnoses (poor sample quality, superimposed images of inflammation and neoplasia).<\/li>\n
  • Targeted therapy (e.g. Sorafenib; Chon et al. 2024) in selected BRAF-positive cases<\/li>\n<\/ul>\n

    Possible sample materials<\/strong><\/p>\n

      \n
    • Tissue (e.g. biopsies fixed in formalin, at least 5 mm)<\/li>\n
    • at least 2 cytological smears (e.g. tumour cell-rich FNA, urinary sediment)<\/li>\n
    • Urine (1 ml urinary sediment, recommendation: spontaneous morning urine)<\/li>\n<\/ul>\n

      As the highly sensitive method of digital droplet PCR (ddPCR) is used, just 2 tumour cells with BRAF<\/em>V595E<\/sup> mutation are sufficient to confirm the diagnosis of carcinoma.[\/vc_column_text][\/vc_column][vc_column width=”1\/3″][vc_column_text css=””]<\/p>\n\n\t\t\t