Pathogenesis of Penile Squamous Cell Carcinoma: Molecular Update and Systematic Review.

Penile squamous cell carcinoma (PSCC) is a rare but aggressive neoplasm with dual pathogenesis (human papillomavirus (HPV)-associated and HPV-independent). The development of targeted treatment is hindered by poor knowledge of the molecular landscape of PSCC. We performed a thorough review of genetic alterations of PSCC focused on somatic mutations and/or copy number alterations. A total of seven articles have been identified which, overall, include 268 PSCC. However, the series are heterogeneous regarding methodologies employed for DNA sequencing and HPV detection together with HPV prevalence, and include, in general, a limited number of cases, which results in markedly different findings. Reported top-ranked mutations involve TP53, CDKN2A, FAT1, NOTCH-1 and PIK3CA. Numerical alterations involve gains in MYC and EGFR, as well as amplifications in HPV integration loci. A few genes including TP53, CDKN2A, PIK3CA and CCND1 harbor both somatic mutations and copy number alterations. Notch, RTK-RAS and Hippo pathways are frequently deregulated. Nevertheless, the relevance of the identified alterations, their role in signaling pathways or their association with HPV status remain elusive. Combined targeting of different pathways might represent a valid therapeutic approach in PSCC. This work calls for large-scale sequencing studies with robust HPV testing to improve the genomic understanding of PSCC.

P53 in Penile Squamous Cell Carcinoma: A Pattern-Based Immunohistochemical Framework with Molecular Correlation.

p53 immunohistochemistry (IHC) has been proposed as a surrogate for TP53 mutations in penile squamous cell carcinomas (PSCC). We aimed to evaluate the performance of a pattern-based evaluation of p53 IHC in PSCC. Human papilloma virus (HPV) DNA testing, p16 and p53 IHC, and whole exome sequencing were performed in a series of 40 PSCC. p53 IHC was evaluated following a pattern-based framework and conventional p53 IHC evaluation. Out of 40 PSCC, 12 (30.0%) were HPV-associated, and 28 (70.0%) were HPV-independent. The agreement between the p53 IHC pattern-based evaluation and TP53 mutational status was almost perfect (k = 0.85). The sensitivity and accuracy of the pattern-based framework for identifying TP53 mutations were 95.5% and 92.5%, respectively, which were higher than the values of conventional p53 IHC interpretation (54.5% and 70.0%, respectively), whereas the specificity was the same (88.9%). In conclusions, the pattern-based framework improves the accuracy of detecting TP53 mutations in PSCC compared to the classical p53 IHC evaluation.

Breve visión histórica de la reproducción desde una óptica andrológica / An historical overview of reproduction from an andrological perspective

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Infección por SARS-CoV-2: implicaciones para la salud sexual y reproductiva. Una declaración de posición de la Asociación Española de Andrología, Medicina Sexual y Reproductiva (ASESA) / SARS-CoV-2 infection: implications for sexual and reproductive health. A position statement of the Asociación Española de Andrología, Medicina Sexual y Reproductiva (ASESA)

OBJETIVO: El objetivo de esta revisión es resumir la evidencia disponible sobre los posibles efectos adversos del SARS-CoV-2 en el sistema reproductor masculino y proporcionar una declaración de posición oficial de la Asociación Española de Andrología, Medicina Sexual y Reproductiva (ASESA). MÉTODOS: Se realizó una búsqueda exhaustiva en las bibliotecas Pubmed, Web of Science, Embase, Medline, Cochrane y MedRxiv. RESULTADOS: No se ha confirmado la orquitis como una posible complicación de la infección por SARS-CoV-2. Un estudio informó que el 19% de los hombres con COVID-19 presentaban molestias escrotales sugestivas de orquitis viral, que no se pudo confirmar. Es posible que el virus no infecte los testículos directamente, si no que desencadene una respuesta autoinmune secundaria y que cause una orquitis autoinmune. COVID-19 se ha asociado con anormalidades en la coagulación por lo que la orquitis podría ser el resultado de una vasculitis segmentaria. Los datos disponibles sobre la presencia del virus en semen son contradictorios. Sólo un estudio informó de la presencia de ARN en el 15,8% de enfermos de COVID-19. La presencia de ácido nucleico o antígeno en el semen no implica la existencia de virus con capacidad de replicación o infección. En hombres con COVID-19 se ha observado un incremento significativo de LH en suero y una drástica disminución de la ratio T/LH y FSH/LH, congruente con un hipogonadismo subclínico. CONCLUSIONES: Los datos disponibles y los hallazgos de los estudios recientes se basan en tamaños de muestra pequeños y proporcionan informaciones contradictorias. Existe la posibilidad teórica de que pueda producirse daño testicular y posterior infertilidad después de la infección por COVID-19, por lo que especialmente para aquellos hombres en edad reproductiva, se debe sugerir consulta y evaluación de la función gonadal y análisis de semen. En cuanto a la posibilidad de transmisión sexual, no hay evidencia suficiente para respaldar la necesidad de que las parejas asintomáticas eviten las relaciones sexuales para protegerse contra la transmisión del virus. Se necesita más investigación para comprender los impactos a largo plazo del SARS-CoV-2 en la función reproductiva masculina, incluidos sus posibles efectos sobre la fertilidad y la función endocrina testicular

OBJECTIVE: The main objective of this revision is to summarize the current existing evidence of the potential adverse effects of SARS-CoV-2 on the male reproductive system and provide the recommendations of the Asociación Española de Andrología, Medicina Sexual y Reproductiva (ASESA) concerning the implications of COVID-19 infection in the management of male infertilty patients and testicular endocrine dysfunction. METHODS: A comprehensive systematic literature search of the databases of PubMed, Web of Science, Embase, Medline, Cochrane and MedRxiv, was carried out. RESULTS: The presence of orchitis as a potential complication of the infection by SARS-CoV-2 has not yet been confirmed. One study reported that 19% of males with COVID-19 infection had scrotal symptoms suggestive of viral orchitis which could not be confirmed. It is possible that the virus, rather than infecting the testes directly, may induce a secondary autoimmune response leading to autoimmune orchitis. COVID-19 has been associated with coagulation disorders and thus the orchitis could be the result of segmental vasculitis. Existing data concerning the presence of the virus in semen are contradictory. Only one study reported the presence of RNA in 15.8% of patients with COVID-19. However, the presence of nucleic acid or antigen in semen is not synonyms of viral replication capacity and infectivity. It has been reported an increase in serum levels of LH in males with COVID-19 and a significant reduction in the T/LH and FSH/LH ratios, consistent with subclinical hypogonadism. CONCLUSIONS: The findings of recent reports related to the potential effects of COVID-19 infection on the male reproductive system are based on poorly designed, small sample size studies that provide inconclusive, contradictory results. Since there still exists a theoretical possibility of testicular damage and male infertilty as a result of the infection by COVID-19, males of reproductive age should be evaluated for gonadal function and semen analysis. With regard to the sexual transmission of the virus, there is not sufficient evidence to recommend asymptomatic couples to abstein from having sex in order to protect themselves from being infected by the virus. Additional studies are needed to understand the long-term effects of SARS-CoV-2 on male reproductive function, including male fertility potential and endocrine testicular function

Generalidades del trasplante renal pediátrico / Living donor kidney transplantation in pediatric recipients

Actualmente, el trasplante renal es el tratamientode elección en niños con IRCT, presentandouna mayor supervivencia que la dialisis y un correctodesarrollo pondoestatural, social y psicointelectual.Las indicaciones de trasplante se han ampliado con losaños, de modo que hoy en día la indicación de trasplanterenal es la insuficiencia renal con síntomas queno pueden eliminarse mediante tratamiento conservador.En la edad pediàtrica, especialmente en menores dedos años, está especialmente indicado el trasplante dedonante vivo, ya que la supervivencia es mayor quecon riñones procedentes de cadáver. Como complicaciones,pueden aparecer rechazo, HTA, infecciones,neoplasias, efectos secundarios de la immunosupresióny recidivas de la enfermedad renal, a parte de las complicacionespropias de la cirugía.Los resultados a 5 años han mejorado en las últimas 5décadas, siendo la mortalidad del niño trasplantadomenor del 5%. La supervivencia del injerto puede alcanzarel 90% en los riñones de donante vivo y el 70% losde donante cadàver. Factores relacionados con la supervivencia del injerto son la edad (peor en receptoresmenores de 2 años), la diálisis pretrasplante, elrechazo agudo y la raza (mejor en caucásicos)

Currently, kidney transplantation is the treatment of choice in children with end stage renal disease, showing higher survivals than dialysis and proper weight-height, social and psychological -intellectual development. The indications for transplantation have been extended with time, so that today the indication for kidney transplantation is set for end stage renal disease with symptoms that cannot be eliminated by conservative treatment. In the pediatric age, mainly in children under two years, living donor kidney transplantation is specially indicated because it has longer survival than cadaver donor kidneys. Complications may appear: rejection, high blood pressure, infections, neoplasias, adverse events related to immunosuppressive drugs, and primary renal disease recurrences, besides surgical complications. Five-year results have improved over the last 5 decades, being mortality lower than 5%. Graft survival may reach 90% for living donor kidneys and 17% for cadaver donor. Factors related to graft survival include age (worse in receptors under 2 yr.), pretransplant dialysis, acute rejection, and race (better in caucasians)

Schwannoma retroperitoneal benigno bilobulado / Bening biobular retroperitoneal schwannoma

OBJETIVOS: Descripción de un nuevo caso clínico de Schwannoma retroperitoneal. MÉTODOS: Presentamos un caso clínico de tumoración retroperitoneal en una paciente de 29 años y la actitud terapéutica seguida ante el mismo. RESULTADOS: El estudio anatomopatológico evidenció la presencia de un Schwannoma sin signos de malignidad. CONCLUSIONES: El Schwannoma retroperitoneal es una patología infrecuente. El diagnóstico preoperatorio es difícil y su tratamiento es la exéresis quirúrgica.imagen fiable, sin olvidar la sintomatología clínica y exploración física, para realizar el diagnóstico diferencial con la torsión testicular. Todo ello ha de poder evitar la exploración quirúrgica, si bien la más mínima duda no ha de demorar la escrototomía exploradora. Y, por último, la excelente respuesta al tratamiento esteroideo (AU)