In silico identification and in vitro expression analysis of breast cancer-related m6A-SNPs.

Research on m6A-associated SNPs (m6A-SNPs) has emerged recently due to their possible critical roles in many key biological processes. In this sense, several investigations have identified m6A-SNPs in different diseases. In order to gain a more complete understanding of the role that m6A-SNPs can play in breast cancer, we performed an in silico analysis to identify the m6A-SNPs associated with breast cancer and to evaluate their possible effects. For this purpose, we downloaded SNPs related to breast cancer and a list of m6A-SNPs from public databases in order to identify which ones appear in both. Subsequently, we assessed the identified m6A-SNPs in silico by expression quantitative trait loci (eQTL) analysis and differential gene expression analysis. We genotyped the m6A-SNPs found in the in silico analysis in 35 patients with breast cancer, and we carried out a gene expression analysis experimentally on those that showed differences. Our results identified 981 m6A-SNPs related to breast cancer. Four m6A-SNPs showed an eQTL effect and only three were in genes that presented an altered gene expression. When the three m6A-SNPs were evaluated in the tissue sample of our breast cancer patients, only the m6A-SNP rs76563149 located in ZNF354A gene presented differences in allele frequencies and a low gene expression in breast cancer tissues, especially in luminal B HER2+ subtype. Future investigations of these m6A-SNPs should expand the study in different ethnic groups and increase the sample sizes to test their association with breast cancer and elucidate their molecular function.

[Penile metastasis like first sign of esophagus carcinoma]. / Metástasis peneana como primera manifestación de un carcinoma esofágico.

We present a new case of penile metastatic disease. The original tumour has been situated in the esophagus, which is a rare clinical situation. But what becomes exceptional in our clinical case is that the penile metastasis was the first disease symptom, since until this moment the original tumour has been silent. Like the majority of these cases the prognosis was gloomy and the patient died in few months after the clinical beginning of the disease.

Metástasis peneana como primera manifestación de un carcinoma esofágico / Penile metastasis like first sign of esophagus carcinoma

Presentamos un nuevo caso de enfermedad metastásica en pene. El tumor primitivo se originó en el esófago, lo que es una rareza clínica. Pero lo que hace excepcional a nuestro caso clínico es que fue la metástasis peneana el primer síntoma de la enfermedad, ya que hasta entonces el tumor primitivo permanencia silente. Como en la mayoría de casos similares el pronóstico fue pésimo y el paciente falleció a los pocos meses del inicio clínico de la enfermedad metastásica peneana (AU)

We present a new case of penile metastatic disease. The original tumour has been situated in the esophagus, which is a rare clinical situation. But what becomes exceptional in our clinical case is that the penile metastasis was the first disease symptom, since until this moment the original tumour has been silent. Like the majority of these cases the prognosis was gloomy and the patient died in few months after the clinical beginning of the disease (AU)

[Paratesticular fibrous pseudotumor]. / Pseudotumor fibroso paratesticular.

OBJECTIVE: Benign testicular proliferative processes are known by the name of pseudotumors, because currently they are not considered real neoplasias. The paratesticular fibrous pseudotumor (PFP) is a rare entity the definition and etiopathogenesis of which is under great confusion. It is a process that misleads the clinical because they simulate neoplasias. This paper aims to help a better knowledge of this non-tumoral process and to avoid diagnostic confusions. METHODS/RESULTS: We review our series of PFP (three cases), which can be considered significant due to its oddity. We analyze the clinical picture, its behavior, imaging diagnostic tests, operative findings and outcomes. CONCLUSIONS: PFP is a rare entity which may misleads the clinical because it may be diagnosed as a neoplasia and lead to aggressive treatment (orchiectomy) which in case of a proper diagnosis could be avoided. The analysis of our series of three cases, with their contribution, and a literature review may help the clinical practice of urologists by recognizing this disease.

Pseudotumor fibroso paratesticular / Paratesticular fibrous pseudotumor

Objetivos: Los procesos proliferativos benignos testiculares se conocen con el nombre de pseudotumors, al no ser considerados en la actualidad verdaderas neoplasias. El Pseudotumor Fibroso Paratesticular (PFP) es una entidad sobre las que existe gran confusión en su definición y etiopatogenia. Se trata de un proceso que confunde al clínico al aparecer simulando neoplasias. La presente comunicación puede ayudar a conocer mejor este proceso no tumoral y evitar confusiones diagnósticas. Métodos/Resultados: Revisamos nuestra serie de PFP (tres casos) sobre esta rara entidad, por lo que dada su rareza puede considerarse significativa. Analizamos su clínica, su comportamiento antes los estudios diagnósticos por imagen, hallazgos operatorios y evolución. Conclusiones: El PFP es una rara entidad que puede confundir al clínico al ser diagnosticado como una neoplasia, y conllevar tratamientos agresivos (orquiectomía) que de realizar un exacto diagnóstico podrían obviarse. El análisis de una serie de tres casos, con sus aportaciones, y la revisión de la literatura efectuada pueden ayudar en la practica clínica al urólogo a reconocer esta enfermedad (AU)

Objective: Benign testicular proliferative processes are known by the name of pseudotumors, because currently they are not considered real neoplasias. The paratesticular fibrous pseudotumor (PFP) is a rare entity, the definition and etiopathogenesis of which is under great confusion. It is a process that misleads the clinical because they simulate neoplasias. This paper aims to help a better knowledge of this non-tumoral process and to avoid diagnostic confusions. Methods/Results: We review our series of PFP (three cases), which can be considered significant due to its oddity. We analyze the clinical picture, its behavior, imaging diagnostic tests, operative findings and outcomes. Conclusions: PFP is a rare entity which may misleads the clinical because it may be diagnosed as a neoplasia and lead to aggressive treatment (orchiectomy) which in case of a proper diagnosis could be avoided. The analysis of our series of three cases, with their contribution, and a literature review may help the clinical practice of urologists by recognizing this disease (AU)