VHL gene mutation in patients wiht renal tumors

Objective & Hypothesis:Objective: This study aimed to determine VHL gene mutations and the relation of these mutations to type and pathological stage of renal tumors.

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Key Findings & Data:Materials and methods: Forty patients (20 males, 20 females; mean age 59 years) who underwent ablative surgery for renal tumor prediagnosis between February 2009-November 2009 in of Ege University School of Medicine, Department of Urology were randomly selected.

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Conclusion & Impact:The present study would be a pioneer for future studies on tumor tissue and VHL gene polymorphism in Turkish population.

🔬Design:Research Article

📍Scope:2009 Verileri

⚙️Variables:Domain Parameters

Abstract

Objective: This study aimed to determine VHL gene mutations and the relation of these mutations to type and pathological stage of renal tumors. Materials and methods: Forty patients (20 males, 20 females; mean age 59 years) who underwent ablative surgery for renal tumor prediagnosis between February 2009-November 2009 in of Ege University School of Medicine, Department of Urology were randomly selected. Twenty-nine of the patients underwent radical nephrectomy, 5 underwent partial nephrectomy, and 2 patients underwent laparoscopic radical nephrectomy. Four patients whose pathological outcome was not malign kidney tumor have been excluded from the study. Thirty-eight patients (21 males, 16 females; mean age 61 years) who underwent any surgeries in Department of Urology and showed no malignance suspicion in the same time period were included in control group. VHL gen mutations were analyzed preoperatively. Results: According to 2002 TNM staging, 8 (22%) patients were T1a, 11 (31%) patients were T1b, 3 (8%) patients were T2, 9 (25%) patients were T3a, 3 (8%) patients were T3b, and 2 (6%) patients were T4 stage. Twenty-eight (78%) patients were N0, 5 (14%) patients were N1, and 3 (8%) patients were N2. Five (14%) patients was at M1 stage. Histologically, 18 (50%) patients had clear cell carcinoma, 3 (8.3%) patients had chromofob cell carcinoma, and 3 (8.3%) patients had papillary cell type 1 carcinoma. Genetic analysis showed that 6 individuals had heterozygote change described previously as mutation (Q167Q and V181V linked heterozygote in 2 patients, P61P heterozygote in 2 patients, L129L heterozygote in 1 patient, and P61P heterozygote in 1 patient). None of these changes resulted in the change of aminoacids. Conclusion: VHL gene mutation was not detected in our study population, which may be result of the genetical characteristics of Turkish population or small sample size. The present study would be a pioneer for future studies on tumor tissue and VHL gene polymorphism in Turkish population.

Özet

Amaç: Bu çalışma ile böbrek tümöründe VHL geninde mutasyonların ve bu mutasyonlar ile tümör tipi ve patolojik evre arasındaki ilişkinin belirlenmesi amaçlanmıştır. Gereç ve yöntem: Şubat 2009-Kasım 2009 tarihleri arasında Ege Üniversitesi Tıp Fakültesi Hastanesi Üroloji Anabilim Dalı’nda böbrek tümörü ön tanısıyla ablatif cerrahi uygulanan 40 hasta (20 erkek, 20 kadın; yaş ortalaması 59) rastgele seçildi. Hastaların 29’una açık radikal nefrektomi, 5’ine açık parsiyel nefrektomi, 2’sine ise laparoskopik radikal nefrektomi yapıldı. Patoloji sonucu malign böbrek tümörü gelmeyen 4 hasta çalışma dışı bırakıldı. Aynı dönemde üroloji kliniğinde opere edilen ve malignite kuşkusu uyandıracak bulgusu olmayan 37 hasta (21 erkek, 16 kadın; yaş ortalaması 61) kontrol grubu olarak belirlendi. Preoperatif dönemde VHL gen mutasyonları incelendi. Bulgular: Tümörlerin 2002 TNM evrelemesi; 8 (%22) hastada T1a, 11 (%31) hastada T1b, 3 (%8) hastada T2, 9 (%25) hastada T3a, 3 (%8) hastada T3b, 2 (%6) hastada ise T4 idi. Hastaların 28’i (%78) N0, 5’i (%14) N1, 3’ü (%8) ise N2 olarak değerlendirilirken, 5 (%14) hasta M1 olarak tespit edildi. Histolojik olarak 18 (%50) hastada şeffaf hücreli karsinom, 3 (%8.3) hastada kromofob hücreli karsinom, 3 (%8.3) hastada papiller tip 1 karsinom saptandı. Genetik olarak 6 hastada daha önce mutasyon olarak tanımlanmamış heterozigot değişiklik (2 hastada Q167Q ve V181V birleşik heterozigotluğu, 2 hastada P61P heterozigotluğu, 1 hastada L129L heterozigotluğu, 1 hastada P61P heterozigotluğu) görüldü. Bu değişikliklerin hiçbirisi aminoasit değişikliğine neden olmadı. Sonuç: Çalışmamızda hiçbir hastada VHL mutasyonu saptanmadı. Bu durum Türklerin genetik yapısındaki farklılığa ya da hasta sayısının az olmasına bağlanabilir. Sunulan çalışma, ilerde yapılacak tümör dokusu ve Türk popülasyonunda VHL gen polimorfizmi çalışmaları için öncü olacaktır.

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Cite This Article

ALTINTAŞ, R., DURMAZ, A. A., TURNA, B., ONAY, H., ÖZKINAY, F., CÜREKLİBATIR, İ. K. (2011). VHL gene mutation in patients wiht renal tumors. Türk Üroloji Dergisi/Turkish Journal of Urology, Cilt: 37 - Sayı: 3, 191–197. https://ajindex.com/articles/328679

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