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Hereditary cancer syndromes (HCS) are genetic diseases with an increased risk of developing cancer. This research describes the implementation of a cancer prevention model, genetic counseling, and germline variants testing in an oncologic center in Mexico. A total of 315 patients received genetic counseling, genetic testing was offered, and 205 individuals were tested for HCS. In 6 years, 131 (63.90%) probands and 74 (36.09%) relatives were tested. Among the probands, we found that 85 (63.9%) had at least one germline variant. We identified founder mutations in BRCA1 and a novel variant in APC that led to the creation of an in-house detection process for the whole family. The most frequent syndrome was hereditary breast and ovarian cancer syndrome (HBOC) (41 cases with BRCA1 germline variants in most of the cases), followed by eight cases of hereditary non-polyposic cancer syndrome (HNPCC or Lynch syndrome) (with MLH1 as the primarily responsible gene), and other high cancer risk syndromes. Genetic counseling in HCS is still a global challenge. Multigene panels are an essential tool to detect the variants frequency. Our program has a high detection rate of probands with HCS and pathogenic variants (40%), compared with other reports that detect 10% in other populations.

130 Background: The socioeconomic status of patients diagnosed with metastatic renal cell carcinoma (mRCC) in developing countries could in many cases limit their access to the best available therapeutic options. We aimed to describe the clinical characteristics and access to treatment of Mexican patients with mRCC. Methods: We performed a retrospective analysis of all patients with a histopathologically confirmed diagnosis of renal cell carcinoma who were treated at an oncology referral center in Northeast Mexico over a 5-year period. Results: We included 233 patients in the analysis, of whom 63% were men. The mean age at diagnosis was 58.2 years; 87% of the tumors were histopathologically classified as clear cell carcinoma. Regarding laterality, 54% of the tumors originated from the right kidney. The distribution of cases by clinical stage (CS) was as follows: CS I 15%, CS II 8%, CS III 17%, CS IV 60%. All of the included patients had government health insurance coverage; however, specific treatment for renal cell cancer was not included in this coverage. In terms of access to first-line systemic management in the 139 patients with advanced kidney cancer who were candidates for treatment, 29% received treatment with a single-drug tyrosine kinase inhibitor (TKI), 4% were treated with combined or single-drug immunotherapy (IO), and 12% were treated with TKI combined with IO. All but one patient who was treated with a single drug or a combination of IO received these drugs in the context of a clinical trial. Fifty-five percent of patients with advanced disease did not have access to standard first-line therapy. The rate of loss to medical follow-up was 69% of cases. Conclusions: Despite the proven oncological benefit of the latest generation of therapies based on IO/IO or IO/TKI for mRCC, access to first-line standard management is still poor in our country, even with single agent TKI. Public health programs should be implemented to expand therapeutic options for this group of patients.

6 Background: Penile cancer is a rare neoplasm (

Hereditary breast and ovarian cancer (HBOC) syndrome is mainly caused by mutations in the BRCA1 and BRCA2 genes. The 3&rsquo, UTR region allows for the binding of microRNAs, which are involved in genetic tune regulation. We aimed to identify allelic variants on 3&rsquo, 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&rsquo, 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&rsquo, 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&rsquo, 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&ndash, 15.4, p &lt, 0.05). Genetic variants into the 3&rsquo, UTR of BRCA1 and BRCA2 increased the risk of HBOC between 3.7&ndash, 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&prime, UTR or the hsa-miR-548 family binding site in BRCA2. Our results add new evidence of miRNA participation in the pathogenesis of HBOC.

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.

e19248 Background: International guidelines for genitourinary cancers recommend treatment decisions by a multidisciplinary tumor board (MTB). The benefits of a MTB include greater accuracy in staging and in the probability of receiving care in compliance with international clinical practice guidelines, greater access to clinical trials, better communication between treating physicians and cost-effective care with greater patient satisfaction, which could translate into better outcomes. Our objective was to assess the impact of a MTB in the management of patients with genitourinary tumors in a tertiary referral university center of México. Methods: We performed a retrospective analysis of all cases presented to the Genitourinary Tumor Committee of our hospital from March to August 2019. Results: A total of 84 patients were included in the analysis; of these 80% were men with a median age of 61 years. Of all the cases, 68% were first-time presentations with a median time from evaluation to presentation of 4 days. The most frequently discussed diagnoses were prostate, urothelial and renal cancer, each corresponding to about 28% of the sample. Forty-six percent of the cases presented were in metastatic disease. The median time for discussion of each case after its presentation was 10 minutes. Changes were made in the clinical stage and treatment plan proposed by the most responsible physician in 4% and 46% of the cases, respectively, achieving a unanimous consensus in 88%. After the MTB session, 29 patients were lost to medical follow-up and were not subsequently evaluated. Among the 55 patients who underwent reassessment, the recommendations of the MTB were applied in 92%. Conclusions: Discussion of urologic oncology cases at the MTB led to a change in the treatment plan in almost half of the patients. Although MTBs are an increasingly common practice in Mexico, this is the first study that describes the impact that these sessions have on the management of genitourinary tumors in our population. The high rate of loss to medical follow-up remains an important problem in developing countries, negatively affecting the prognosis of these patients.

393 Background: Notwithstanding excellent oncological outcomes reported by pivotal trials in patients with testicular germ cell tumors (TGCT), adherence to medical treatment and follow-up remains a major issue in developing countries. Studies that describe the clinical characteristics and treatment adherence of Mexican men with TGCT are lacking. Methods: We performed a retrospective analysis of all men with newly diagnosed TGCT treated at an oncology referral center in Northeast Mexico from 2014 to 2018. Results: In the analysis, 195 patients were included. Median age at diagnosis was 28 years; median time from diagnosis to first evaluation by an oncologist was 26 days. Distribution according to the laterality of the primary tumor was right, 56%; left, 43%; and bilateral, 1%. There were 14 oncological emergencies at presentation; the most frequent was choriocarcinoma syndrome, described in 5 patients. Thirty-five percent of cases were seminomatous germ cell tumors (SGCT) and 65% nonseminomatous germ cell tumors (NSGCT). The clinical stages at diagnosis were I, 36%; IS, 8%; II, 18%; and III, 38%. After risk stratification according to the International Germ Cell Cancer Collaborative Group (IGCCCG), 90% of SGCT had a good risk and 10% an intermediate risk. In NSGCT, the risk distribution was 65, 10, and 25% for good, intermediate, and poor-risk disease, respectively. After proposing treatment, the adherence rate was 81%. Of the total, 58% were lost to medical follow-up with a median time of adherence of 11.5 months. Conclusions: Despite coverage by the Mexican public health insurance system “Seguro Popular”, treatment adherence and medical follow-up abandonment is a problem among men with TGCT, which could negatively impact their prognosis. Measures must be implemented to optimize adherence in this group of patients.