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1.
Int J Mol Sci ; 22(3)2021 Jan 27.
Artículo en Inglés | MEDLINE | ID: mdl-33513905

RESUMEN

Adrenocortical carcinoma (ACC) is a rare malignancy that is associated with a dismal prognosis. Pan-genomic studies have demonstrated the involvement of ATRX and ZNRF3 genes in adrenocortical tumorigenesis. Our aims were to evaluate the protein expression of ATRX and ZNRF3 in a cohort of 82 adults with ACC and to establish their prognostic value. Two pathologists analyzed immuno-stained slides of a tissue microarray. The low protein expression of ATRX and ZNRF3 was associated with a decrease in overall survival (OS) (p = 0.045, p = 0.012, respectively). The Cox regression for ATRX protein expression of >1.5 showed a hazard ratio (HR) for OS of 0.521 (95% CI 0.273-0.997; p = 0.049) when compared with ≤1.5; for ZNRF3 expression >2, the HR for OS was 0.441 (95% CI, 0.229-0.852; p = 0.015) when compared with ≤2. High ATRX and ZNRF3 protein expressions were associated with optimistic recurrence-free survival (RFS) (p = 0.027 and p = 0.005, respectively). The Cox regression of RFS showed an HR of 0.332 (95%CI, 0.111-0.932) for ATRX expression >2.7 (p = 0.037), and an HR of 0.333 (95%CI, 0.140-0.790) for ZNRF3 expression >2 (p = 0.013). In conclusion, low protein expression of ATRX and ZNRF3 are negative prognostic markers of ACC; however, different cohorts should be evaluated to validate these findings.


Asunto(s)
Neoplasias de la Corteza Suprarrenal/metabolismo , Neoplasias de la Corteza Suprarrenal/mortalidad , Carcinoma Corticosuprarrenal/metabolismo , Carcinoma Corticosuprarrenal/mortalidad , Recurrencia Local de Neoplasia/metabolismo , Ubiquitina-Proteína Ligasas/metabolismo , Proteína Nuclear Ligada al Cromosoma X/metabolismo , Adolescente , Neoplasias de la Corteza Suprarrenal/patología , Carcinoma Corticosuprarrenal/patología , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/metabolismo , Estudios de Cohortes , Supervivencia sin Enfermedad , Femenino , Humanos , Inmunohistoquímica , Estimación de Kaplan-Meier , Antígeno Ki-67/metabolismo , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/patología , Pronóstico , Análisis de Regresión , Análisis de Matrices Tisulares
2.
Int Braz J Urol ; 41(5): 953-8, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26689521

RESUMEN

PURPOSE: To evaluate the efficiency of a novel device coupled with ultrassound for renal percutaneous puncture. MATERIALS AND METHODS: After establishing hydronephrosis, ten pigs had three calyxes of each kidney punctured by the same urology resident, with and without the new device ("Punctiometer"). Time for procedure completion, number of attempts to reach the calyx, puncture precision and puncture complications were recorded in both groups and compared. RESULTS: Puncture success on the first attempt was achieved in 25 punctures (83%) with the Punctiometer and in 13 punctures (43%) without the Punctiometer (p=0.011). The mean time required to perform three punctures in each kidney was 14.5 minutes with the Punctiometer and 22.4 minutes without the Punctiometer (p=0.025). The only complications noted were renal hematomas. In the Punctiometer group, all kidneys had small hematomas. In the no Punctiometer group 80% had small hematomas, 10% had a medium hematoma and 10% had a big hematoma. There was no difference in complications between both groups. CONCLUSIONS: The Punctiometer is an effective device to increase the likelihood of an accurate renal calyx puncture during PCNL, with a shorter time required to perform the procedure.


Asunto(s)
Cálices Renales/cirugía , Nefrostomía Percutánea/instrumentación , Punciones/instrumentación , Ultrasonografía Intervencional/instrumentación , Animales , Diseño de Equipo , Modelos Animales , Nefrostomía Percutánea/métodos , Punciones/métodos , Distribución Aleatoria , Reproducibilidad de los Resultados , Porcinos , Factores de Tiempo , Ultrasonografía Intervencional/métodos
3.
Artículo en Inglés | MEDLINE | ID: mdl-32117062

RESUMEN

Objective: Germline ARMC5 mutations are considered to be the main genetic cause of primary macronodular adrenal hyperplasia (PMAH). PMAH is associated with high variability of cortisol secretion caused from subclinical hypercortisolism to overt Cushing's syndrome (CS), in general due to bilateral adrenal nodules and rarely could also be due to non-synchronic unilateral adrenal nodules. The frequency of adrenal incidentalomas (AI) associated with PMAH is unknown. This study evaluated germline allelic variants of ARMC5 in patients with bilateral and unilateral AI and in patients with overt CS associated with bilateral adrenal nodules. Methods: We performed a retrospective multicenter study involving 123 patients with AI (64 bilateral; 59 unilateral). We also analyzed 20 patients with ACTH pituitary independent overt CS associated with bilateral adrenal nodules. All patients underwent germline genotyping analysis of ARMC5; abdominal CT and were classified as normal, possible or autonomous cortisol secretion, according to the low doses of dexamethasone suppression test. Results: We identified only one pathogenic allelic variant among the patients with bilateral AI. We did not identify any pathogenic allelic variants of ARMC5 in patients with unilateral AI. Thirteen out of 20 patients (65%) with overt CS and bilateral adrenal nodules were carriers of pathogenic germline ARMC5 allelic variants, all previously described. The germline ARMC5 mutation was observed in only one patient with bilateral AI; it was associated with autonomous cortisol secretion and showed to be a familial form. Conclusion: The rarity of germline ARMC5 mutations in AI points to other molecular mechanisms involved in this common adrenal disorder and should be investigated. In contrast, patients with overt Cushing's syndrome and bilateral adrenal nodules had the presence of ARMC5 mutations that were with high prevalence and similar to the literature. Therefore, we recommend the genetic analysis of ARMC5 for patients with established Cushing's syndrome and bilateral adrenal nodules rather than patients with unilateral AI.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales/genética , Proteínas del Dominio Armadillo/genética , Síndrome de Cushing/genética , Polimorfismo de Nucleótido Simple , Enfermedades de las Glándulas Suprarrenales/epidemiología , Enfermedades de las Glándulas Suprarrenales/etiología , Enfermedades de las Glándulas Suprarrenales/genética , Neoplasias de las Glándulas Suprarrenales/epidemiología , Adulto , Alelos , Estudios de Casos y Controles , Síndrome de Cushing/complicaciones , Síndrome de Cushing/epidemiología , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
4.
Int. braz. j. urol ; 41(5): 953-958, Sept.-Oct. 2015. tab, graf
Artículo en Inglés | LILACS | ID: lil-767052

RESUMEN

ABSTRACT Purpose: To evaluate the efficiency of a novel device coupled with ultrassound for renal percutaneous puncture. Materials and Methods: After establishing hydronephrosis, ten pigs had three calyxes of each kidney punctured by the same urology resident, with and without the new device ("Punctiometer"). Time for procedure completion, number of attempts to reach the calyx, puncture precision and puncture complications were recorded in both groups and compared. Results: Puncture success on the first attempt was achieved in 25 punctures (83%) with the Punctiometer and in 13 punctures (43%) without the Punctiometer (p=0.011). The mean time required to perform three punctures in each kidney was 14.5 minutes with the Punctiometer and 22.4 minutes without the Punctiometer (p=0.025). The only complications noted were renal hematomas. In the Punctiometer group, all kidneys had small hematomas. In the no Punctiometer group 80% had small hematomas, 10% had a medium hematoma and 10% had a big hematoma. There was no difference in complications between both groups. Conclusions: The Punctiometer is an effective device to increase the likelihood of an accurate renal calyx puncture during PCNL, with a shorter time required to perform the procedure.


Asunto(s)
Animales , Cálices Renales/cirugía , Nefrostomía Percutánea/instrumentación , Punciones/instrumentación , Ultrasonografía Intervencional/instrumentación , Diseño de Equipo , Modelos Animales , Nefrostomía Percutánea/métodos , Punciones/métodos , Distribución Aleatoria , Reproducibilidad de los Resultados , Porcinos , Factores de Tiempo , Ultrasonografía Intervencional/métodos
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