SIU 2017: TP53 p. R337H Germline Mutation Analysis in Patients with Clear Cell Renal Cell Carcinoma

Lisbon, Portugal (UroToday.com) Most cases of Renal Cell Carcinoma (RCC) are classified as sporadic. Clear Cell is the most frequent subtype (80-90%). Several hereditary syndromes are correlated with a higher risk of developing RCC. These are responsible for 3%-5% of RCC cases but this number is most probably under-estimated. In general, 10 syndromes and 12 genes related to RCC have been described up to date. 

In the Brazilian population, a specific mutation of the tumor suppressor gene p53 has been identified - (p.R337H), which is related to Li-Fraumeni Syndrome, associated with an early onset RCC. This study attempted to evaluate the presence of this specific mutation (p.R337H) only in patients with RCC clear cell subtype.

Included in this study were patients who underwent either partial or radical nephrectomy between 2008-2014 in a single institution (AC Camargo Cancer Center, Sao Paulo, Brazil). All removed tumors were classified as RCC Clear Cell subtype. The p.R337H mutation was investigated by PCR-RFLP specific to the TP53 exon 10 and confirmation sequencing was performed by the Sanger method.

Overall 205 samples were evaluated and only one (corresponding to 0.5% of the cohort) manifested this specific p.R337H mutation.

In conclusion, the p.R337H specific mutation is very rare among Brazilian patients with RCC clear cell subtype.


Presented by:  Mauricio Akira G. Assakawa, Brazil

Written by: Hanan Goldberg, MD, Urologic Oncology Fellow (SUO), University of Toronto, Princess Margaret Cancer Centre.Twitter: @GoldbergHanan at the 37th Congress of Société Internationale d’Urologie - October 19-22, 2017- Lisbon, Portugal




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