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PURPOSEMetastatic urothelial carcinoma (mUC) poses a challenge to health care systems, given its treatment complexity and mortality. We aimed to describe the characteristics, treatment patterns, and survival outcomes of Mexican patients with mUC.METHODSA retrospective study was conducted across eight centers for adults with mUC from January /2001 to December 2021. We recorded medical history, eligibility for first-line platinum therapy, treatment lines received, and access to novel drugs. Descriptive statistics were used and survival analysis, including Kaplan-Meier curves and Cox proportional hazards model, was performed.RESULTSWe identified 379 patients with mUC; 37 were excluded, and 76% was male, with a median age of 67 years. The median follow-up was 8.4 months. Among those who received a first-line treatment (65%), cisplatin-based chemotherapy (45%) was the most common followed by carboplatin (39%). Causes of cisplatin ineligibility were Eastern Cooperative Oncology Group ≥2 (41%) and glomerular filtration rate

Abstract Background Pathogenic variants (PVs) of BRCA genes entail a lifetime risk of developing breast cancer in 50–85% of carriers. Their prevalence in different populations has been previously reported. However, there is scarce information regarding the most common PVs of these genes in Latin-Americans. This study identified BRCA1 and BRCA2 PV frequency in a high-risk female population from Northeastern Mexico and determined the association of these mutations with the patients’ clinical and pathological characteristics. Methods Women were divided into three groups: aged ≤ 40 years at diagnosis and/or risk factors for hereditary breast cancer (n = 101), aged > 50 years with sporadic breast cancer (n = 22), and healthy women (n = 72). Their DNA was obtained from peripheral blood samples and the variants were examined by next-generation sequencing with Ion AmpliSeq BRCA1 and BRCA2 Panel using next-generation sequencing. Results PVs were detected in 13.8% group 1 patients (BRCA1, 12 patients; BRCA2, 2 patients). Only two patients in group 2 and none in group 3 exhibited BRCA1 PVs. Variants of uncertain significance were reported in 15.8% patients (n = 16). In group 1, patients with the triple-negative subtype, PV frequency was 40% (12/30). Breast cancer prevalence in young women examined in this study was higher than that reported by the National Cancer Institute Surveillance, Epidemiology (15.5% vs. 5.5%, respectively). Conclusions The detected BRCA1 and BRCA2 PV frequency was similar to that reported in other populations. Our results indicate that clinical data should be evaluated before genetic testing and highly recommend genetic testing in patients with the triple-negative subtype and other clinical aspects.

Bilateral testicular germ cell tumors (BTGCT) occur in 1 to 4% of patients with testicular cancer and of these, 10-15% are synchronous. Overall, BTGCT represents less than 0.5% of all new cases of testicular cancer. There are few reports in the literature of synchronous BTGCT with different histology. We present the case of a 30-year-old man who presented to our genitourinary tumor unit with a bilateral increase of testicular volume. After initial assessment, a testicular ultrasound showed the presence of solid tumors in both testes. Staging studies were negative for metastatic disease. The patient was referred to the fertility clinic for sperm banking and later underwent a bilateral radical orchiectomy. The histopathology evaluation revealed a 5.5 cm right-sided mixed germ cell tumor and a 1.5 cm left-sided testicular seminoma. Because patient´s poor compliance for surveillance was identified as a risk factor for relapse and poor outcome, adjuvant chemotherapy was favored. The patient underwent one cycle of bleomycin, etoposide and cisplatin (BEP). After four years of follow up, the patient shows no evidence of relapse, either clinically or radiologically. In men unlikely to carry out successful surveillance; active treatment is the preferred option for preventing disease recurrence, even in patients with no risk factors. The physician must consider all available therapeutic measures in this scenario to achieve the best possible therapeutic result.

Background: The presence of bleomycin-induced pneumomediastinum (BIP) in patients with germ cell tumors (GCT) is an uncommon clinical variant within the spectrum of the lung toxicity associated with this drug. The incidence of BIP is currently unknown due to the rarity of this presentation. Case description: We present the case of a 21-year-old man who presented with good-risk recurrent disease from a germ cell tumor two years after orchiectomy due to disease limited to the testis. BEP was planned for 3 cycles as a treatment schedule. After administration of 30 IU of bleomycin, he developed pneumomediastinum associated with respiratory symptoms. After 4 days of surveillance with conservative management, the patient had a good response. Conclusions: To our knowledge, we present the first case of BIP after a single standard dose of bleomycin in a patient with testicular cancer. Choosing the patient who would benefit most from bleomycin to perform individualized treatment could reduce the incidence of toxicity associated with this drug in patients with GCT. Special attention should be given to respiratory symptoms during treatment schemes containing bleomycin. Resumen: Introducción: La presencia de neumomediastino inducido por bleomicina (NIB) en pacientes con tumores de células germinales (TCG) es una variante clínica poco común dentro del espectro de toxicidad pulmonar asociada a este fármaco. La incidencia de NIB es actualmente desconocida debido a su rareza. Caso clínico: Presentamos el caso de un hombre de 21 años de edad que se presentó con recurrencia de un tumor germinal mixto posterior a dos años de vigilancia tras orquiectomía por enfermedad limitada al testículo. Se planteó como esquema de tratamiento el régimen BEP. Tras la primera administración de 30 UI de bleomicina desarrolló neumomediastino aislado. Posterior a 4 días de vigilancia con manejo conservador presentó buena respuesta. Conclusiones: Presentamos el primer caso de NIB tras una sola dosis de bleomicina en un paciente con cáncer testicular. Elegir al paciente que se pudiera beneficiar más con el uso de bleomicina, individualizando su utilización, pudiera reducir la incidencia de toxicidad asociada a este fármaco en los pacientes con TCG. Se debe prestar especial atención a los síntomas respiratorios durante el tratamiento con esquemas que contengan bleomicina.

Hereditary breast and ovarian cancer (HBOC) syndrome is mainly caused by mutations in the BRCA1 and BRCA2 genes. The 3’UTR region allows for the binding of microRNAs, which are involved in genetic tune regulation. We aimed to identify allelic variants on 3’UTR miRNA-binding sites in the BRCA1 and BRCA2 genes in HBOC patients. Blood samples were obtained from 50 patients with HBOC and from 50 controls. The 3’UTR regions of BRCA1 and BRCA2 were amplified by PCR and sequenced to identify genetic variants using bioinformatics tools. We detected nine polymorphisms in 3’UTR, namely: four in BRCA1 (rs3092995 (C/G), rs8176318 (C/T), rs111791349 (G/A), and rs12516 (C/T)) and five in BRCA2 (rs15869 (A/C), rs7334543 (A/G), rs1157836 (A/G), and rs75353978 (TT/del TT)). A new variant in position c.*457 (A/C) on 3’UTR of BRCA2 was also identified. The following three variants increased the risk of HBOC in the study population: rs111791349-A, rs15869-C, and c.*457-C (odds ratio (OR) range 3.7–15.4; p < 0.05). Genetic variants into the 3’UTR of BRCA1 and BRCA2 increased the risk of HBOC between 3.7–15.4 times in the study population. The presence/absence of these polymorphisms may influence the loss/creation of miRNA binding sites, such as hsa-miR-1248 in BRCA1 3′UTR or the hsa-miR-548 family binding site in BRCA2. Our results add new evidence of miRNA participation in the pathogenesis of HBOC.