Selim TAŞ, Ali Erhan EREN, Mahmut Taha ÖLÇÜCÜ, Barış PAKSOY, Ekrem İSLAMOĞLU, Mehmet Salih BOĞA

Genç Yaşta Görülen Transizyonel Hücreli Mesane Karsinomunda Genetik Yatkınlık Var Mıdır?

Amaç: Bu çalışmada genç yaşta görülen mesane transizyonel hücreli karsinomlu (TCC) hastalarda genetik yatkınlığın olup olmadığı belirlenmeye çalışıldı. Gereç ve Yöntemler: Ocak 2010-Ocak 2021 tarihleri arasında transüretral mesane tümörü rezeksiyonu (TUR-MT) yapılan total 652 hastanın verileri incelendi. Verilerine ulaşılabilen 40 yaş altında, sigara kullanmayan ve üriner sistem TCC açısından mesleki predispozan faktörü olmayan 7 hasta çalışmaya dahil edildi. Hastaların yaşı, vücut kitle indeksi (VKİ), cinsiyeti, meslekleri ve beş yıllık takipleri geriye dönük kayıt edildi. Hastaların kan örneklerinden toplam 403 kanserle ilgili gen çalışıldı. Genetik mutasyonları belirlemek için Clinical Exom Sequencing testi kullanıldı. Bulgular: Hastaların 6’sı erkek 1’i kadındı. Ortalama yaş ve VKİ sırasıyla 31,42 ± 2,12 (22-39) yıl ve 21,72 ± 33,14 (22-27,7) kg/m2 idi. Hastaların hiçbirinin birinci derece akrabalarında üriner sistem TCC özgeçmişi yoktu. Tüm hastaların içinde sadece 1 hastada kesme noktası küme bölgesi geninde ekson 1-17 delesyonu vardı. Sonuç: Genç yaşta görülen mesane TCC’de genetik predispozan faktörler henüz net ortaya konulamamıştır. Çalışmamız sınırlı sayıda hastayı içermekle birlikte, sonuçlarımıza göre mesane kanseri aile hikayesi olmayan genç yaşta görülen mesane TCC’li hastalarda genetik predispozan saptanmamıştır. Net ilişkinin değerlendirilebilmesi için daha büyük hasta sayılı prospektif randomize kontrollü çalışmalara ihtiyaç vardır.

Anahtar Kelimeler:

Mesane Kanseri, gen değişimleri, transizyonel hücreli karsinom, genç hasta

Is There A Genetic Predisposition for Transitional Cell Carcinoma of the Bladder at a Young Age?

Objective: The aim of this study is to determine whether there is a genetic predisposition in young patients with transitional cell carcinoma (TCC) of the bladder. Material And Methods: Data were collected from a total of 652 patients who underwent transurethral resection of bladder tumor (TUR-BT) between January 2010 and January 2021. Seven patients under the age of 40, non-smokers, and without occupational predisposing factors to urinary tract TCC were included in the study. Age, body mass index (BMI), sex, occupation, and five-year follow-up were collected retrospectively. A total of 403 cancer-related genes were analyzed from the patients’ blood samples. The Clinical Exome Sequencing test was used to identify genetic mutations. Results: Six of the patients were male and one patient was female. The mean age and BMI were 31.42 ± 2.12 (22-39) years and 21.72 ± 33.14 (22-27.7) kg/m2, respectively. None of the patients had a first-degree relative with urinary tract TCC. Of all the patients, only one patient had a deletion of exons 1 to 17 in the breakpoint cluster region gene. Conclusion: Genetic predisposing factors in young bladder TCC have not been clearly identified. Although our study included a limited number of patients, our results showed no genetic predisposition in young patients with bladder TCC without family history of bladder cancer. To evaluate the exact relationship, prospective randomised controlled trials with larger numbers of patients are needed.

Keywords:

Bladder cancer, gene alterations, transitional cell carcinoma, young patients,

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