RESUMEN
Background: This study aimed to evaluate the diagnostic value of outer dense fiber 4 [ODF4], melanoma associated antigen A3 [MAGEA3], and MAGEAB4 mRNAs in transitional cell carcinoma [TCC], using a small amount of cell reverse transcriptase-polymerase chain reaction [RT-PCR] on urinary exfoliated cells
Methods: We recruited a total of 105 suspected TCC patients and 54 sex- and age-matched non-TCC controls. The candidates' genetic expression patterns were investigated with RT-PCR, while reverse transcription quantitative PCR was applied to quantify and compare each mRNA level between cases and control groups
Results: The sensitivity of ODF4, MAGEA3, and MAGEAB4 RT-PCR was 54.8%, 63%, and 53.4%, whereas the specificity was 73.7%, 86%, and 94.7%, respectively. Combining ODF4, MAGEA3, and MAGEAB4 RT-PCR offered a relatively higher sensitivity [83.6%]
Conclusion: RT-PCR with ODF4, MAGEA3, and MAGEAB4 on urinary exfoliated cells could provide clinicians with a promising method to improve TCC diagnosis, especially in the case of gross hematuria and catheterization. The method used here is non-invasive, simple and convenient, and unlike cytology, it does not rely directly on expert professional opinions. These features can be of particular importance to the management of TCC patients in whom regular and lifelong surveillance is required
Asunto(s)
Humanos , Masculino , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Carcinoma de Células Transicionales/diagnóstico , Neoplasias Urológicas/genética , Biomarcadores de Tumor , Cola del Espermatozoide , Proteínas de Plasma Seminal , Antígenos de Neoplasias , Proteínas de NeoplasiasRESUMEN
ABSTRACT Cancer related to hereditary syndromes corresponds to approximately 5-10% of all tumors. Among those from the genitourinary system, many tumors had been identified to be related to genetic syndromes in the last years with the advent of new molecular genetic tests. New entities were described or better characterized, especially in kidney cancer such as hereditary leiomyomatosis renal cell carcinoma (HLRCC), succinate dehydrogenase kidney cancer (SDH-RCC), and more recently BAP1 germline mutation related RCC. Among tumors from the bladder or renal pelvis, some studies had reinforced the role of germline mutations in mismatch repair (MMR) genes, especially in young patients. In prostate adenocarcinoma, besides mutations in BRCA1 and BRCA2 genes that are known to increase the incidence of high-risk cancer in young patients, new studies have shown mutation in other gene such as HOXB13 and also polymorphisms in MYC, MSMB, KLK2 and KLK3 that can be related to hereditary prostate cancer. Finally, tumors from testis that showed an increased in 8 - 10-fold in siblings and 4 - 6-fold in sons of germ cell tumors (TGCT) patients, have been related to alteration in X chromosome. Also genome wide association studies GWAS pointed new genes that can also be related to increase of this susceptibility.
Asunto(s)
Humanos , Masculino , Femenino , Síndromes Neoplásicos Hereditarios/genética , Neoplasias Urológicas/genética , Carcinoma de Células Renales/genética , Factores de Riesgo , Mutación de Línea Germinal , Predisposición Genética a la Enfermedad , Neoplasias Renales/genéticaRESUMEN
No abstract available.