Öz
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.
Anahtar Kelimeler
Bladder cancer gene alterations transitional cell carcinoma young patients
Etik Beyan
University of Health Sciences, Antalya Training and Research Hospital (Approval no: 19/18, 10/12/2020).
Kaynakça
- 1. Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A (2018) Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68:394-424. https://doi.org/10.3322/caac.21492
- 2. Ferlay J, Colombet M, Soerjomataram I, Mathers C, Parkin DM, Pineros M, Znaor A, Bray F (2019) Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods. Int J Cancer. 2019;144:1941-1953. https://doi.org/10.1002/ijc.31937
- 3. Freedman ND, Silverman DT, Hollenbeck AR, Schatzkin A, Abnet CC (2011) Association between smoking and risk of bladder cancer among men and women. JAMA. 2011;306:737-745. https://doi.org/10.1001/jama.2011.1142
- 4. Sun JW, Zhao LG, Yang Y, Ma X, Wang YY, Xiang YB (2015) Obesity and risk of bladder cancer: a dose-response meta-analysis of 15 cohort studies. PLoS One. 2015;10:e0119313. https://doi.org/10.1371/journal.pone.0119313
- 5. Gu J, Wu X (2011) Genetic susceptibility to bladder cancer risk and outcome. Per Med. 2011;8:365-374. https://doi.org/10.2217/pme.11.15
- 6. Cordon-Cardo C (2008) Molecular alterations associated with bladder cancer initiation and progression. Scand J Urol Nephrol Suppl:2008;154-165. https://doi.org/10.1080/03008880802291915
- 7. Kutarski PW, Padwell A (1993) Transitional cell carcinoma of the bladder in young adults. Br J Urol. 1993;72:749-755. https://doi.org/10.1111/j.1464-410x.1993.tb16261.x
- 8. Johnson DE, Hillis S (1978) Carcinoma of the bladder in patients less than 40 years old. J Urol. 1978;120:172-173. https://doi.org/10.1016/s0022-5347(17)57090-1
- 9. Wild PJ, Giedl J, Stoehr R, Junker K, Boehm S, van Oers JM, Zwarthoff EC, Blaszyk H, Fine SW, Humphrey PA, Dehner LP, Amin MB, Epstein JI, Hartmann A (2007) Genomic aberrations are rare in urothelial neoplasms of patients 19 years or younger. J Pathol. 2007;211:18-25. https://doi.org/10.1002/path.2075
- 10. Owen HC, Giedl J, Wild PJ, Fine SW, Humphrey PA, Dehner LP, Amin MB, Epstein JI, Blaszyk H, Hughes D, Hartmann A, Stoehr R, Catto JW (2010) Low frequency of epigenetic events in urothelial tumors in young patients. J Urol.2010;184:459-463. https://doi.org/10.1016/j.juro.2010.03.131
- 11. Lopez-Beltran A, Montironi R (2004) Non-invasive urothelial neoplasms: according to the most recent WHO classification. Eur Urol. 2004;46:170-176. https://doi.org/10.1016/j.eururo.2004.03.017
- 12. Wan J, Grossman HB (1989) Bladder carcinoma in patients age 40 years or younger. C cancer. 1989;64:178-181. https://doi.org/10.1002/1097-0142(19890701)64:1<178::aid-cncr2820640130>3.0.co;2-b
- 13. Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M, Boardman LA (2010) Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract. 2010;8:6. https://doi.org/10.1186/1897-4287-8-6
- 14 Van der Post RS, Kiemeney LA, Ligtenberg MJ, Witjes JA, Hulsbergen-van de Kaa CA, Bodmer D, Schaap L, Kets CM, van Krieken JH, Hoogerbrugge N (2010) Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet. 2010;47:464-470. https://doi.org/10.1136/jmg.2010.076992
- 15. Benson RC, Jr., Tomera KM, Kelalis PP (1983) Transitional cell carcinoma of the bladder in children and adolescents. J Urol. 1983;130:54-55. https://doi.org/10.1016/s0022-5347(17)50950-7
- 16. Chang SY, Ma CP (1987) Transitional cell carcinoma of the urinary bladder in patients under 40 years of age. Br J Urol. 1987;60:343-344. https://doi.org/10.1111/j.1464-410x.1987.tb04981.x
- 17. Habuchi T, Takahashi T, Kakinuma H, Wang L, Tsuchiya N, Satoh S, Akao T, Sato K, Ogawa O, Knowles MA (2001) Hypermethylation at 9q32-33 tumour suppressor region is age-related in normal urothelium and an early and frequent alteration in bladder cancer. Oncogene. 2001;20:531-537 . https://doi.org/10.1038/sj.onc.1204122
- 18. Linn JF, Sesterhenn I, Mostofi FK, Schoenberg M (1998) The molecular characteristics of bladder cancer in young patients. J Urol. 1998;159:1493-1496. https://doi.org/10.1097/00005392-199805000-00022
- 19. Fine SW, Humphrey PA, Dehner LP, Amin MB, Epstein JI (2005) Urothelial neoplasms in patients 20 years or younger: a clinicopathological analysis using the world health organization 2004 bladder consensus classification. The Journal of urology. 2005;174:1976-1980. https://doi.org/10.1097/01.ju.0000176801.16827.82
- 20. Yossepowitch O, Dalbagni G (2002) Transitional cell carcinoma of the bladder in young adults: presentation, natural history and outcome. J Urol. 2002;168:61-66. https://doi.org/10.1016/S0022-5347(05)64832-X
- 21. Dason S, Wong NC (2021) Environmental and Genetic Factors Contributing to Bladder Carcinogenesis. Comprehensive Diagnostic Approach to Bladder Cancer. Springer, pp 2021;13-44. https://doi.org/10.1007/978-3-030-82048-0_2
Öz
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
Kaynakça
- 1. Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A (2018) Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68:394-424. https://doi.org/10.3322/caac.21492
- 2. Ferlay J, Colombet M, Soerjomataram I, Mathers C, Parkin DM, Pineros M, Znaor A, Bray F (2019) Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods. Int J Cancer. 2019;144:1941-1953. https://doi.org/10.1002/ijc.31937
- 3. Freedman ND, Silverman DT, Hollenbeck AR, Schatzkin A, Abnet CC (2011) Association between smoking and risk of bladder cancer among men and women. JAMA. 2011;306:737-745. https://doi.org/10.1001/jama.2011.1142
- 4. Sun JW, Zhao LG, Yang Y, Ma X, Wang YY, Xiang YB (2015) Obesity and risk of bladder cancer: a dose-response meta-analysis of 15 cohort studies. PLoS One. 2015;10:e0119313. https://doi.org/10.1371/journal.pone.0119313
- 5. Gu J, Wu X (2011) Genetic susceptibility to bladder cancer risk and outcome. Per Med. 2011;8:365-374. https://doi.org/10.2217/pme.11.15
- 6. Cordon-Cardo C (2008) Molecular alterations associated with bladder cancer initiation and progression. Scand J Urol Nephrol Suppl:2008;154-165. https://doi.org/10.1080/03008880802291915
- 7. Kutarski PW, Padwell A (1993) Transitional cell carcinoma of the bladder in young adults. Br J Urol. 1993;72:749-755. https://doi.org/10.1111/j.1464-410x.1993.tb16261.x
- 8. Johnson DE, Hillis S (1978) Carcinoma of the bladder in patients less than 40 years old. J Urol. 1978;120:172-173. https://doi.org/10.1016/s0022-5347(17)57090-1
- 9. Wild PJ, Giedl J, Stoehr R, Junker K, Boehm S, van Oers JM, Zwarthoff EC, Blaszyk H, Fine SW, Humphrey PA, Dehner LP, Amin MB, Epstein JI, Hartmann A (2007) Genomic aberrations are rare in urothelial neoplasms of patients 19 years or younger. J Pathol. 2007;211:18-25. https://doi.org/10.1002/path.2075
- 10. Owen HC, Giedl J, Wild PJ, Fine SW, Humphrey PA, Dehner LP, Amin MB, Epstein JI, Blaszyk H, Hughes D, Hartmann A, Stoehr R, Catto JW (2010) Low frequency of epigenetic events in urothelial tumors in young patients. J Urol.2010;184:459-463. https://doi.org/10.1016/j.juro.2010.03.131
- 11. Lopez-Beltran A, Montironi R (2004) Non-invasive urothelial neoplasms: according to the most recent WHO classification. Eur Urol. 2004;46:170-176. https://doi.org/10.1016/j.eururo.2004.03.017
- 12. Wan J, Grossman HB (1989) Bladder carcinoma in patients age 40 years or younger. C cancer. 1989;64:178-181. https://doi.org/10.1002/1097-0142(19890701)64:1<178::aid-cncr2820640130>3.0.co;2-b
- 13. Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M, Boardman LA (2010) Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract. 2010;8:6. https://doi.org/10.1186/1897-4287-8-6
- 14 Van der Post RS, Kiemeney LA, Ligtenberg MJ, Witjes JA, Hulsbergen-van de Kaa CA, Bodmer D, Schaap L, Kets CM, van Krieken JH, Hoogerbrugge N (2010) Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet. 2010;47:464-470. https://doi.org/10.1136/jmg.2010.076992
- 15. Benson RC, Jr., Tomera KM, Kelalis PP (1983) Transitional cell carcinoma of the bladder in children and adolescents. J Urol. 1983;130:54-55. https://doi.org/10.1016/s0022-5347(17)50950-7
- 16. Chang SY, Ma CP (1987) Transitional cell carcinoma of the urinary bladder in patients under 40 years of age. Br J Urol. 1987;60:343-344. https://doi.org/10.1111/j.1464-410x.1987.tb04981.x
- 17. Habuchi T, Takahashi T, Kakinuma H, Wang L, Tsuchiya N, Satoh S, Akao T, Sato K, Ogawa O, Knowles MA (2001) Hypermethylation at 9q32-33 tumour suppressor region is age-related in normal urothelium and an early and frequent alteration in bladder cancer. Oncogene. 2001;20:531-537 . https://doi.org/10.1038/sj.onc.1204122
- 18. Linn JF, Sesterhenn I, Mostofi FK, Schoenberg M (1998) The molecular characteristics of bladder cancer in young patients. J Urol. 1998;159:1493-1496. https://doi.org/10.1097/00005392-199805000-00022
- 19. Fine SW, Humphrey PA, Dehner LP, Amin MB, Epstein JI (2005) Urothelial neoplasms in patients 20 years or younger: a clinicopathological analysis using the world health organization 2004 bladder consensus classification. The Journal of urology. 2005;174:1976-1980. https://doi.org/10.1097/01.ju.0000176801.16827.82
- 20. Yossepowitch O, Dalbagni G (2002) Transitional cell carcinoma of the bladder in young adults: presentation, natural history and outcome. J Urol. 2002;168:61-66. https://doi.org/10.1016/S0022-5347(05)64832-X
- 21. Dason S, Wong NC (2021) Environmental and Genetic Factors Contributing to Bladder Carcinogenesis. Comprehensive Diagnostic Approach to Bladder Cancer. Springer, pp 2021;13-44. https://doi.org/10.1007/978-3-030-82048-0_2
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Üroloji |
| Bölüm | Araştırma Makaleleri |
| Yazarlar | |
| Yayımlanma Tarihi | 30 Eylül 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 15 Sayı: 3 |
