Instituto Nacional De Ciencias Research Articles

A cascade of care for diabetes in people living with HIV in a tertiary care center in Mexico City

Background Diabetes affects 4.5% of people living with HIV in Mexico. This study aims to describe the diabetes cascade of care (DMC) in people with HIV in a tertiary center in Mexico City. Methods We conducted a single-center review of people with HIV aged over 18, using medical records of active people enrolled at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (INCMNSZ) HIV Clinic (HIVC). Our analysis focused on their last visit to describe the DMC, aiming to identify gaps in control goals. We included people who had a consultation within the 12 months preceding May 2020. Results Out of the 2072 active people, medical records were available for 2050 (98.9%). Among these, 326 people (15.9%) had fasting glucose (FG) abnormalities, of which 133 (40.7%) had diabetes. The prevalence of diabetes among people with HIV was of 6.4% (133/2050). Regarding the DMC, the following proportions of people achieved control goals: 133/133 (100%) received medical care in the last 12 months, 123/123 (100%) had blood pressure (BP) <140/90 mmHg, 73/132 (55.3%) had LDL cholesterol (c-LDL) <100 mg/dl, 63/132 (47.7%) had FG <130 mg/dl, 50/116 (43.1%) had glycosylated hemoglobin (HbA1c) <7%. ABC goals (HbA1c <7%, c-LDL <100 mg/dl, BP <140/90 mmHg) were met in 28/109 (25.6%) people. 126/133 (94%) people with HIV achieved HIV-viral load <50 copies/mL. Conclusions Despite the high rate of viral suppression among people with HIV and diabetes, significant challenges remain in achieving comprehensive diabetes control. These findings highlight the need for targeted interventions to improve metabolic outcomes and the overall management of diabetes in people with HIV.

Exploring seizure characteristics in individuals with autoimmune encephalitis: A comprehensive retrospective study in a low-middle-income country setting

IntroductionSeizures and epilepsy are well-documented in association with autoimmune encephalitis. Despite this, a notable gap exists in understanding the persistence of seizures beyond the acute phase, particularly within the context of low- and low-middle-income settings. ObjectiveTo evaluate the frequency, clinical characteristics, diagnosis, and potential factors associated with the occurrence and persistence of seizures in autoimmune encephalitis patients. MethodsThis was a retrospective, cross-sectional study. Patients diagnosed with possible, probable or confirmed autoimmune encephalitis according to the Graus criteria at the “Instituto Nacional de Ciencias Neurológicas” in Lima, Peru, were included between January 2018 and April 2023. Demographic, clinical, diagnosis, and management information was recorded. A bivariate analysis was performed considering the persistence of seizures at one-year follow-up and a second analysis was performed to compare the groups according to the anti N-methyl-D-aspartate receptor (NMDAR) antibody results. ResultsSixty patients predominantly male (40; 66.7 %) were included. Only 36 (60 %) patients were tested for antibodies, 16 (44.4 %) were NMDAR positive. 46 (76.7 %) patients had at least one seizure and 13 (37.1 %) had seizures after 1 year of follow-up. Patients with seizure relapse were younger, 20 (IQR: 18–28) versus 29.5 years (IQR: 21–48), p=0.049. Four (44.4 %) patients with persistent seizures had positive NMDAR results. Similar sex distributions, no differences in seizure characteristics, and higher CSF cell count in the NMDAR-positive group were observed. Neuroimaging, EEG findings, and follow-up times were comparable between the groups. ConclusionsWe found a 37.1 % seizures rate after one year of follow-up, predominantly in younger patients.

Addressing the need for genetic cancer risk assessment in Mexico: From establishment of a formal program to delivery innovation and expansion

PurposeThe purpose of this manuscript is to show the process of the establishment and adaptation of an oncogenetics program in Mexico. MethodsThe oncogentics program at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán was established as a traditional in-person service and adapted to include telemedicine counseling to expand services to other hospitals and persists as a mixed counseling model with research/commercial genetic testing. ResultsA total of 2222 participants were included with a median age of 47 years and 77.6% were women; 64% and 36% were enrolled in person and by phone, respectively; 91.1% had research testing, 4.7% commercial testing, 2% complementary pharma testing, and 2.1% had more than 1 testing. Results disclosure was by phone for 49.6%, in person for 43.3%, and by videocall for 7.1% of the cases. Cascade testing proportion was similar in both groups (88%), and 14.8% probands and 40.8% family members had a positive result for a pathogenic cancer susceptibility gene variant. ConclusionOur results demonstrated that genetic cancer risk assessment is feasible in limited resources settings and provide evidence that telemedicine is effective and can be used as an alternative in real-world populations. Our model could be adapted and potentially replicated in other institutions and countries that face similar barriers for health care.

Impact of multidisciplinary tumor boards on clinical decision making in a genitourinary oncology clinic in Mexico city.

e23217 Background: Effective management of genitourinary neoplasms demands a comprehensive approach due to the diverse treatment options and the need for multiple specialists. Multidisciplinary tumor board (MDTB) meetings are a platform for experts to collectively assess and discuss the latest evidence and provide their expertise to tailor treatment plans for patients. Methods: Cases discussed during uro-oncology MDTB meetings at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán in Mexico City over a five-year period (01/2018 to 12/2022) were included. We analyzed the type of neoplasm, reason for case discussion, specialties involved and whether the final decision led to a modification of the original plan. Descriptive statistics were used for analysis. Chi-squared test was used to determinate differences and p value &lt; 0.05 was considered statistically significant. A logistic regression analysis was performed for multivariate analysis. Results: Over the study period, 500 discussions involving 399 patients were included. 87% were men. Prostate, kidney, testicular, upper tract urothelial and bladder carcinoma, represented: 223 (44.6%), 117 (23.4%), 84 (16.8%), 37 (7.4%), 32 (6.4%) of cases, respectively. The majority were presented by urology (319 cases; 63.6%). The primary reason for presentation was surgical decisions in 54.6%. Regarding final conclusions, 55.8% underwent modifications in the treatment plan, 33.2% had no changes and 11% remained inconclusive, requiring further assessment. Individuals with metastatic disease had a higher likelihood of treatment plan changes in 61.6% vs 52.3% (OR 1.46 95%CI 1.01-2.12; p = 0.042). The 163 cases (32.6%) presented during the COVID-19 pandemic were more prone to have treatment modifications 62.6% vs 52.5% (OR 1.51 95%CI 1.03-2.22; p = 0.034); cases presented for surgical reasons during this period were more likely to have a change in treatment modality 74% vs 52.3% (OR 2.6 95%CI 1.34-5.04; p = 0.004). Implementation of results was successful in most cases (72%), with a median time of 3.6 weeks. Reasons for not implementing the plan included: patient decision, treating physician decision, comorbidities, death, and lack of resources. Factors associated with implementation in the multivariate analysis included: male gender (OR 2.81), cases presented during pandemic (OR 2.0), and by urology service (OR 1.92). Conclusions: Among patients presented in our uro-oncology MDTB meetings, more than half will have a change in the original treatment plan, and this agreed strategy is successfully implemented in most individuals. These sessions remained key for patient management during the COVID-19 pandemic.

Predictive models as a clinical decision support tool for genetic cancer risk assessment among Mexican patients at risk of hereditary colorectal cancer.

10617 Background: Hereditary cancer syndromes, including Lynch syndrome (LS) with an increased risk of colorectal cancer (CRC), have prompted the development of clinical criteria and predictive models (PM) to identify at-risk individuals. However, these criteria have been validated with limited representation from the Latino population. Several factors may influence CRC penetrance, potentially leading to variations in PM performance across populations. Given that CRC ranks as the third most prevalent cancer worldwide, the increasing incidence of early-onset disease highlights the need for expanding Genetic Cancer Risk Assessment (GCRA) services. Methods: This prospective study included Mexican patients who were diagnosed with CRC and met NCCN criteria for GCRA. Participants were enrolled at two referral centers in Mexico, the Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City and at the Hospital Zambrano Hellion TecSalud, Nuevo Leon. Participants' carrier risk was estimated using the PREMM5 model. Amsterdam II and revised Bethesda criteria, immunohistochemistry (IHC) for DNA mismatch repair (MMR) proteins in tumor tissue and multigene panel testing results were reviewed. For this analysis, only pathogenic and likely pathogenic (P/LP) variants in probands were reported. Results: From April 2016 to October 2023, 194 patients were included, with a median age at diagnosis of 45.0 (range 17-82) years, and 49.5% were women. P/LP variants were identified in 37.6% (n=73). 27.5% (n=50) were carriers of P/LP variants associated with LS (29 MLH1, 13 MSH2, 6 MSH6, and 2 PMS2). 11.8% (n=23) were carriers of P/LP variants in other genes (7 APC, 4 ATM, 3 CHEK2, 2 BRCA1, 2 TP53, 2 STK11, 1 PALB2, 1 BRIP1, and 1 MUTYH). Overall, carriers of PVs were diagnosed with CRC at a younger age than non-carriers (42 vs 46 years, p=0.034). The Amsterdam II criteria proved to be accurate (Sen 55%, Spe 91%, PPV 0.69, NPV 0.85), while the Bethesda criteria (Sen 98%, Spe 18%, PPV 0.29, NPV 0.96) and IHC for MMR proteins (Sen 94%, Spe 67%, PPV 0.61, NPV 0.95) were found to be highly sensitive. The area under the ROC curve for PREMM5 was 0.82 with a mean score 28.5 (2.1 – 50) in patients with LS and 6.0 (0.9 – 50) in non-carriers. Carriers of PVs had a higher rate of multiple primary malignancies than non-carriers (41.0% vs 19.0%, p=0.0014), and self-reported family history of CRC (65.7% vs 24.8%, p&lt;0.001). Conclusions: Our results showed the PREMM5 model and IHC for MMR proteins effectively prioritized patients eligible for germline genetic testing in resource-limited settings. The performance of PREMM5 in this Mexican cohort was similar to that reported in the validation study of this model in other populations. Considering the spectrum of identified P/LP variants, the multigene panel test should be used in the comprehensive evaluation of Mexican patients with CRC.

Abstract PO2-26-03: Patient decision making and preferences regarding neoadjuvant chemotherapy in Mexican women with early breast cancer

Abstract Background: Neoadjuvant therapy in breast cancer is considered standard treatment for the majority of patients with locally advanced breast cancer. Its use has been extended to early breast cancer aiming to downstage the extent of disease and surgery in the breast and/or axillary lymph nodes, to provide information regarding effectiveness of systemic therapy (which might guide adjuvant treatment recommendations), to provide prognostic information, as well as to extend time for appropriate genetic testing and planning breast reconstruction. However, little is known about patient decision making and preferences in this scenario. We aimed to describe patients’ preferences regarding neoadjuvant chemotherapy (NAC) for early breast cancer, patient decision-making patterns, and satisfaction with their decisions. Methods: Single arm prospective study at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán in Mexico City. We included patients aged ≥18 years with recent localized and operable breast cancer diagnosis. Electronic preferences and decision-making questionnaires were completed by each patient before NAC was started. A decision regret scale was completed within the first month after surgery was performed. Demographic and clinico-pathologic characteristics were extracted from the electronic medical records. Results: From March 2020 to April 2023, 29 women were enrolled. Mean age was 49.2 (SD 16.2), 55.5% (n=16) were married or had a partner, 79.3% (n= 23) had at least one child, 58.6% (n=17) had high school or higher education, and 48.2% (n=14) were housewives. 75.8% of women answered that they were proposed to be treated with NAC because of the tumor size, 55.1% due to positive lymph nodes, 72.4% to obtain a conserving surgery and 72.4% to obtain prognostic information. In 75.8% of the cases the oncologist made the decision of NAC and in 96.5% the chemotherapy schedule was explained to patients and their families. 82.7% of women answered that it was important for them to have a breast conserving surgery, 93.1% were worried about adverse events, 79.3% thought that there were possibilities to disappear the tumor with the chemotherapy and 31% thought that if the tumor disappear, they would not require surgery. After surgery was performed 96.1% answered that the decision of NAC was the right one, 7.6% would not make the same choice, and 23% felt that the decision to receive NAC caused them harm. Conclusion: Our study suggests that the reason to make a treatment decision related to NAC for early breast cancer was discussed and explained to the majority of the patients. However, physicians’ opinion was the most powerful to influence decision. A significant proportion of patients desire to have a conserving surgery and were worried about adverse events. Perspectives of patients’ preferences regarding NAC should be considered in treatment decision making to improve their decision satisfaction. Citation Format: Yanin Chavarri-Guerra, Haydee Cristina Verduzco-Aguirre, Roberto Gonzalez-Salazar, Ilana de la Puente Tawil, Paulina Quiroz-Friedman, Alejandro Alfaro-Goldaracena, Sofia Sanchez-Roman, Zuleyma Nieto-Garcia. Patient decision making and preferences regarding neoadjuvant chemotherapy in Mexican women with early breast cancer [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO2-26-03.

Seroprevalencia de virus BK en donadores y receptores de trasplante renal.

Introduction: BK virus (BKV) is highly prevalent in the general population, in renal transplant (RT) patients it is the main cause of infectious tubulointerstitial nephritis, leading to graft dysfunction or loss. The seroprevalence in the Mexican population is unknown. The present study seeks to establish the seroprevalence of VBK in renal donors and recipients in the Mexican adult population. Methods: This is a cross-sectional study conducted at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán in Mexico City in the period June 2017, April 2018. Seroprevalence prior to renal transplantation was evaluated through qualitative BK-IgG ELISA (MyBioSource Inc, San Diego, CA), in donors and recipients of RT. Results: Qualitative measurement of IgG for BK virus by ELISA method was performed in 80 donors and 88 renal recipients. The seroprevalence in donors was 56.3% (95%CI, 45%-67%), while in recipients it was 45.5% (95%CI, 35%-56%). None of the variables analyzed showed an association with increased risk of seropositivity for BKV in either recipients or donors. Conclusion: The seroprevalence of BKV in our center was lower than expected for a developing country, having a sufficient sample size to extrapolate it to the Mexican population.

Outcomes and Experiences of Patients and Their Caregivers After Severe Stroke Requiring Tube Feeding in Peru

ObjectivesEvaluate clinical outcomes of stroke survivors in Peru discharged with artificial nutrition via a feeding tube (FT), and explore perspectives and experiences of these patients and their caregivers. MethodsRetrospective chart review to describe the prevalence of FT placement and characteristics of patients admitted with stroke to the Instituto Nacional de Ciencias Neurológicas in Lima, Peru between January 2019 and 2021. Follow-up calls to stroke survivors discharged home with FTs or their caregivers included quantitative and qualitative questions to assess long-term outcome and explore perspectives around poststroke care and FT management. We analyzed quantitative data descriptively and applied thematic analysis to qualitative data using a consensus-driven codebook. ResultsOf 812 hospitalized patients with stroke, 146 (18%) were discharged home with FT, all with nasogastric tubes (NGTs). Follow-up calls were performed a median of 18 months after stroke with 96 caregivers and three patients. Twenty-five patients (25%) had died, and 82% of survivors (n = 61) remained dependent for some care. Four themes emerged from interviews: (1) perceived suffering (physical, emotional, existential) associated with the NGT and stroke-related disability, often exacerbated by lack of preparedness or prognostic awareness; (2) concerns around compromised personhood and value-discordant care; (3) coping with their loved-one's illness and the caregiving role; and (4) barriers to NGT care and skill acquisition. ConclusionWe identified a high burden of palliative and supportive needs among severe stroke survivors with NGTs and their caregivers suggesting opportunities to improve poststroke care through education, communication, and support.

Implementation of Therapeutic and/or Abuse Drug Analysis in Blood Samples via Chemiluminescent Immunoassay Technique Using the Randox Evidence Investigator™ Equipment

The Toxicology Laboratory of the Instituto Nacional de Ciencias Forenses de Guatemala -INACIF- is responsible for analysing the biological signs in the search for chemical substances, among which drugs are found. Because Laboratories constantly need to update their technology, it was necessary to implement a new chemiluminescence immunoassay technique using the Randox Evidence InvestigatorTM kit. This technique is useful as it provides accurate and reproducible results. To implement this technique, 10 blood samples with a positive result for drugs habitually detected in the Toxicology Laboratory and 10 blood samples with a negative result for drugs were analysed, said analysis gave as a result the fulfillment of what was expected for positive and negative drugs. The time invested in analysis was also evaluated, which was approximately 4 to 4.5 hours.

Participation of the Mexican General Surgery in International Journals

Background: Scientific publications are essential for disseminating knowledge and updates among physicians. Integrating scientific research into clinical practice and medical education is crucial for improving patient care. Developing scientific skills alongside clinical skills is essential for applying the scientific method in evidence-based medicine. Publishing research findings in journals is the final step in the scientific process, but it is sometimes overlooked, affecting a country's scientific output. Aim: The aim of this study is to quantify Mexico's contribution to the most significant international journals in the field of surgery. Material and methods: Descriptive bibliometric study, of articles published in a 5-year period between 2018 and 2022 in one of the top 10 journals with the highest impact factor in the field of general surgery, articles were included if it was identified that one of the authors was affiliated with a Mexican institution. Results: 59 articles published in 10 of the journals with the highest impact in the area of surgery. The journals with the most publications were the British Journal of Surgery with 11 articles (17.2%), Mexico City representing 83.2% of the total publications. The average number of citations for each article was 20.36 ± 31.4 (range 0-198). The institution with the highest number of publications was the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán with 15 (25%). Conclusion This study provides a comprehensive overview of general surgery research in Mexico, highlighting both achievements and areas for improvement. By understanding the current landscape and identifying key challenges, Mexican surgeons and researchers can chart a course for continued growth and advancement in their specialty.

Efforts for detection of aortic aneurysms and human resources training for the optimization of their treatment.

To review admissions, interventions and in-hospital mortality associated to Abdominal Aortic Aneurysms (AAA), and to analyze the impact of the introduction of a training program and imaging screening at our institution. Retrospective study where hospitalizations, procedures and mortality secondary to AAA were recorded. The national databases (ND) from the Secretariat of Health were utilized from 2010 to 2020. In-hospital lethality was calculated and compared with the experience at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (INCMNSZ). The statistical analysis was completed with the STATA version 17. According to the ND, 899 (91%) hospital admissions secondary to AAA occurred, while in the INCMNSZ 85 (9%). Most of them belonged to the male gender (68%); 811 (82%) patients underwent open surgical repair, and 173 (18%) to an endovascular exclusion (EVAR), the latter approach was significantly more frequently performed at our institution (p = 0.007). The 30-day hospital mortality was 22.5%; in the ND was 23.9 vs. a 16.4% in the INCMNSZ without significant difference (p = 0.1). AAA remain unrecognized in our country. The introduction of University programs and imaging screening might impact in the early detection, and to reduce the morbidity and mortality associated to emergency procedures.

Overall Survival and Erythroid Response in Patients with Low-Risk Myelodysplastic Neoplasms after First-Line Treatment in a Low-Middle Income Country

Introduction Myelodysplastic neoplasms/syndromes (MDS) are a heterogeneous group of clonal disorders characterized by ineffective hematopoiesis and an increased risk of transformation to acute myeloid leukemia (AML). Current standard risk stratification model, the Revised International Prognostic Scoring System (IPSS-R), classifies patients into lower (≤3.5 points) or higher risk MDS. Lower-risk MDS (LR-MDS) treatment is based on the prevailing cytopenia and intends to improve symptomatic burden and minimize transfusion dependency. Anemia is present in 80-90% of patients with MDS. Throughout most of the course of the disease, patients with MDS have a hemoglobin &amp;lt; 10 g/dL, which leads to a decreased quality of life. Also, 50% of patients with MDS will eventually need red blood cell transfusions. Current options for the active treatment of anemia in LR-MDS are limited and vary among countries. Although erythropoiesis stimulating agents (ESAs) are considered standard of care in the absence of del5q, immunosuppressive therapy (IST) and androgens are still used in low income countries. The present study aims to evaluate whether erythroid responses and overall survival differ in patients with LR-MDS, based on their first-line treatment. Methods This is a retrospective study in patients with LR-MDS at Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, a tertiary care center in Mexico City. Eligible patients were diagnosed between January 2002 and December 2022 according to World Health Organization (WHO) 2016 criteria. Response was assessed according to International Working Group (IWG) 2018 criteria. We defined erythroid response (HI-E) as the sum of the responses achieved within different transfusion burden categories. First line therapy included ESAs, IST (cyclosporine ± eltrombopag), and androgens (mesterolone, danazol). These were compared through bivariate analysis, Kaplan-Meier curves and log-rank test. Results Until December 2022, 109 LR-MDS patients were considered for inclusion. Among them, 29 patients were lost to follow-up, and 25 patients were solely observed without any further therapy. Also, 7 patients who received other therapies were excluded. Ultimately, 48 patients were included in this analysis, 56.3% (n=27) were female, mean age was 62.8 (±15.9) years. Based on WHO 2016 classification, MDS with uni- and multilineage dysplasia was present in 58.3% (n=28) of the patients, while 29.2% (n=14) had hypoplastic MDS. Anemia was present in 89.6% (n=43) of the patients. When evaluating transfusion burden, 37.5% (n=18) of patients were non-transfusion dependent (NTD), 31.3% (n=15) low-transfusion burden (LTB), and another 31.3% (n=15) high-transfusion burden (HTB). ESAs and IST were the most frequently used frontline therapies, each accounting for 41.7% (n=20) of the patients; the remaining 16% (n= 8) received androgens. When comparing baseline characteristics between treatment arms, we found lower hemoglobin values and a greater proportion of severe anemia in ESA-treated patients (p= 0.039, p= 0.036), however, no differences in transfusion burden was observed (p= 0.212). Erythroid response rates were 25% (n=5), 20% (n=4) and 62.5% (n=5) among those treated with ESAs, IST and androgens, respectively (p= 0.071). When assessing HI-E by transfusion burden, no differences were observed between treatment arms except in HTB patients (p= 0.023). Neither time to response, nor duration of response were significantly different between treatment groups ( Table 1). Importantly, 3 of the 4 responders in the IST group received cyclosporine monotherapy, also 50% were hypoplastic MDS. After a median follow up of 47 months (IQR:22.5-85.5), the median overall survival(OS) for the entire cohort was not reached. The 3-year-OS rates for IST, ESA and androgens were 94%, 54% and 50%, respectively (p= 0.018) ( Figure 1). Conclusions In spite of the bias and limitations in the retrospective nature of this study, IST seems to be a valid option in frontline therapy for LR-MDS, since HI-E rates are similar to those observed with ESAs. Additionally, IST group showed a better OS. Results obtained with androgens merit further study and should be interpreted with caution because of the sample size.

Germline DNA Repair Genes Pathogenic Variants Among Mexican Patients With Prostate Cancer.

Early identification of germline mutation carriers may be relevant for the optimal management of prostate cancer and to inform cancer risk in relatives. However, population minorities have limited access to genetic testing. The aim of this study was to describe the frequency of DNA repair gene pathogenic variants (PVs) among Mexican men with prostate cancer referred for Genomic Cancer Risk Assessment and testing. Patients diagnosed with prostate cancer who meet criteria for genetic testing and enrolled in the Clinical Cancer Genomics Community Research Network at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán in Mexico City were included. Descriptive statistics were performed using frequency and proportions for categorical variables and median and range for quantitative variables. X2 and t test were used for group comparisons. A total of 199 men were enrolled, median age at diagnosis was 66 (range 44-88) years; 45% were de novo metastatic and 44% were high- very high and 10% were intermediate risk group. Four (2%) had a pathogenic germline variant; one each of the following genes: ATM, CHEK2, BRIP1, and MUTYH (all monoallelic). Younger men at diagnosis were more likely to carry a PV than older age at diagnosis (56.7 vs. 66.4 years, P=.01). Our results showed a low prevalence of known prostate cancer associated PVs and no BRCA PVs in Mexican men with prostate cancer. This suggests that the genetic and/or epidemiologic risk factors for prostate cancer are not well characterized in this specific population.

A randomized controlled trial evaluating pretest cancer genetics educational video or in-person genetic counseling.

10597 Background: Cancer genetic testing indications are rapidly expanding to determine treatment eligibility for patients with cancer, to identify individual cancer risk as well as to select family members at higher cancer risk when a pathogenic variant (PV) has been identified in the family. Currently, international guidelines recommend that all candidates for genetic testing should have genetic counseling to make an informed decision for genetic testing. However, with the increased demand for genetic testing, innovative ways to deliver pretest information are needed, especially in limited resource settings, where genetic cancer professionals’ availability is scarce. Methods: This is a non-inferiority trial comparing a pretest educational video to in-person genetic counseling. Participants referred for genetic cancer risk assessment at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán in Mexico City were enrolled if they met international cancer genetic testing criteria and did not previously have genetic testing and/or counseling. The primary outcome was the uptake of genetic testing. Secondary outcomes included changes in genetic cancer knowledge, anxiety, and satisfaction using validated tools. Results: A total of 250 participants were included: 124 were randomized to the in-person genetic counseling arm and 126 to the educational video arm. Mean age was 47.9 years (SD 12.7), 86.4% were women, 37.2% had high-school or less and 86.4% had personal history of cancer (70% breast cancer). Overall, test acceptance was 100% in both arms. Cancer genetics knowledge improved in both groups: in-person from. 53 to .74 (diff .20; 95%CI .24-.26; p &lt; 0.05) and video from .51 to .68 (diff .16; 95%CI .20-.12; p &lt; 0.05). However, the in-person arm had a higher post counseling knowledge score (p 0.001). 43.5% and 42% of participants in the in-person and video arms had moderate-severe baseline anxiety. After intervention, both groups had a decrease in anxiety score: in-person from 5.2 to 4.7 (diff .58; 95% CI .09-1.08; p 0.01) and video from 4.9 to 4.1 (diff .75; 95%CI 0.42-1.08; p &lt; 0.05). Both groups were satisfied with genetic services (97.5% and 92.5%, respectively; p 0.34). Conclusions: A pretest educational video was non-inferior regarding genetic testing acceptance. It was also associated with improved genetic cancer knowledge and decreased anxiety levels. These results support the use of educational videos before genetic testing where in-person genetic counseling availability is limited. Clinical trial information: pending .

Pursuing cancer treatment across the US-Mexico border: Motivations and barriers.

e18575 Background: Healthcare utilization is a common reason for bidirectional travel across the US-Mexico border. We surveyed Mexican oncologists to understand why patients with cancer in the US and Mexico seek care outside their home country and what barriers they face. Methods: Approval was obtained from Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán´s IRB. Oncologists living in Mexican border states (Baja California, Sonora, Chihuahua, Coahuila, Nuevo León, and Tamaulipas) were identified from the Mexican Society of Oncology’s directory. Two hundred twenty-five participants were queried via e-mail with a REDCap survey designed by the investigators. Descriptive statistics were used to analyze responses. Results: Sixty-six respondents completed the survey, most of whom were medical (n = 24) or surgical oncologists (n = 24) who had practiced for &lt; 5 years (n = 31). Sixty (90.9%) respondents interacted with US-based patients who traveled to Mexico to receive care, most frequently due to inadequate health insurance (n = 45). Forty-eight (72.7%) respondents interacted with Mexico-based patients who traveled to the US to receive care, most frequently due to patient perception of superior care in the US (n = 38). Table 1 describes the reported reasons patients traveled across the border for cancer care. Twenty-nine (43.9%) respondents interacted with US-based patients who wanted to receive care in Mexico but could not, most frequently due to lack of financial resources (n = 17) or of a support system in Mexico (n = 10). Forty-three (65.2%) respondents interacted with Mexico-based patients who wanted to receive care in the US but could not, most frequently due of lack of financial resources (n = 43) or passport/visa issues (n = 14). Conclusions: According to Mexican oncologists, US-based patients travel to Mexico to receive cancer care primarily due to inadequate health insurance. In contrast, Mexico-based patients travel to the US primarily due to their perception that care in the US is of higher quality and because aspects of their care are unavailable in Mexico. Both US and Mexico-based patients face many barriers to receiving care outside their home country, which should be tackled to improve access to quality care in border region. [Table: see text]

Crossing the US-Mexico border for cancer care: Which treatments are more sought-after?

e18576 Background: Crossing the US-Mexico border to seek healthcare is common, but limited data is available regarding cross-border cancer care. Since access and availability differs between Mexico and the US, we investigated which therapies were sought by Mexico and US-based patients crossing the border to receive cancer care. Methods: An online survey was sent to oncologists in Mexican border states (Baja California, Chihuahua, Coahuila, Nuevo León, Sonora, and Tamaulipas) using the Mexican Society of Oncology’s member directory. The survey was administered via REDCap in October-November 2022. Responses were analyzed using descriptive statistics. The study was approved by the IRB of Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Results: Sixty-six respondents completed the survey (response rate 29.3%). Most were medical (n = 24, 36.4%) or surgical (n = 24, 36.4%) oncologists practicing in both public and private settings (71.2%), with almost a third practicing in Baja California (31.8%). Sixty respondents (90.9%) reported treating US patients seeking a second opinion in Mexico. Respondents reported patients traveled to receive various treatment modalities with curative surgery (64.4%) being the most common. Seven respondents (11.9%) had interacted with patients who traveled to Mexico seeking non-FDA approved therapies, including homeopathic/alternative treatments. Thirty-one respondents (47.0%) reported treating patients traveling to buy medications with oral chemotherapy (CT) (76.7%) being the most common. Fifty respondents (75.8%) reported treating Mexican patients who traveled to the US seeking a second opinion. Respondents reported patients traveled to receive immunotherapy (59.2%). Five respondents (10.2%) treated patients who traveled to the US to receive CAR-T cell therapy, not currently available in Mexico. Twenty respondents (30.8%) reported treating patients who traveled to buy medications, with oral CT (60%) being the most common. Conclusions: Mexican oncologists often treat patients seeking cross-border cancer care. Therapies sought by patients from both sides of the border differ, mostly due to local availability. Factors associated with these differences require further study to address disparities on health outcomes across the US-Mexico border. [Table: see text]

Transnational utilization of diagnostic studies across the US-Mexico border.

e18574 Background: Transnational healthcare utilization between US and Mexico border states is well described for specific medical conditions; however, little is known regarding the trans-border use of diagnostic imaging and invasive studies in cancer care in this region. We aimed at identifying patterns of diagnostic testing use among US- and Mexico-based patients. Methods: A cross-sectional online survey was sent to oncologists practicing in Mexican border states (Baja California, Chihuahua, Coahuila, Nuevo León, Sonora, and Tamaulipas), identified from the Mexican Society of Oncology’s member directory. The survey was administered through REDCap between October and November 2022. Responses were analyzed using descriptive statistics. The study was approved by the IRB of Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Results: Sixty-six respondents completed the survey. Respondents were mostly medical oncologists (n = 24) or surgical oncologists (n = 24). Most reported primarily practicing for &lt; 5 years (46.9%) in both public and private practice settings. Approximately 70% (n = 46) of respondents reported interacting with US-based patients traveling to Mexico to undergo diagnostic imaging studies, the most common of which included CT-scan (82.6%). Fifty-six percent (n = 37) of respondents interacted with patients traveling to Mexico for the purpose of undergoing invasive testing, requiring access via percutaneous puncture or incision, where the most frequently sought test included a biopsy (91.9%, n = 34). Forty percent (n = 26) of respondents interacted with patients from Mexico who travelled to the US for diagnostic imaging, who most frequently sought nuclear imaging studies (80.0%). Approximately 33% of respondents (n = 22) interacted with patients who travelled for diagnostic testing, with next generation sequencing (NGS) the most common study requested (90.9%). See Table. Conclusions: Diagnostic studies play an essential role in the management of cancer. A significant proportion of patients travelling to Mexico for diagnostic tests pursued CT imaging scans and biopsies, which may be due to the lower costs of those procedures in Mexico, even for patients who might have insurance. In contrast, most Mexican patients who traveled to the US for testing pursued nuclear imaging and NGS, perhaps reflecting lack of access and availability. Strategies aimed at improving access to evidence-based diagnostic testing are needed to reduce inequities both in high- and middle-income countries. [Table: see text]

Spectrum of germline pathogenic variants among patients with cancer in Mexico.

10620 Background: Up to 10% of patients with cancer harbor pathogenic germline variants (PVs) in one or more cancer susceptibility genes. Genetic cancer risk assessment (GCRA) is an important tool for the management of patients with cancer. It allows the identification of candidates for structured screening protocols, risk reduction strategies, targeted therapies and cascade testing. Knowledge about the prevalence and spectrum of PVs is limited among underrepresented populations. We studied the prevalence of germline PVs in a cohort of Mexican patients with cancer. Methods: Between April 2017 and September 2022, patients with diagnosis of cancer who met clinical criteria for GCRA according to international guidelines (NCCN) and were enrolled in the international Clinical Cancer Genomics Community Research Network (CCGCRN) registry at Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran were included. Cancer risk counseling and germline multi-gene panel testing were performed. Post-test counseling and cascade testing with known PV analysis was offered. Results: 1322 patients met inclusion criteria (probands n = 1027, relatives n = 295). Among the probands, 72.4% (744/1027) were women, median age at cancer diagnosis was 48.2 years (range 1-88) and 9.8% (n = 101) had more than one primary tumor. 14.5% (149/1027) of probands had a positive result in which 152 PV were identified ( BRCA1 n = 39, BRCA2 n = 33, ATM n = 11, CHEK2 n = 11, MLH1 n = 11, TP53 n = 7, PALB2 n = 7, NF1 n = 6, MSH2 n = 5, MSH6 n = 3, PTEN n = 3, APC n = 2, BRIP1 n = 2, CDH1 n = 2, RB1 n = 2 and 1 PV in the genes: CDKN2A, MAX, MUTYH, NBN, PTCH1, RAD50, SDHA and SDHB). The frequency of PV according to cancer diagnosis was: breast 15.5% (82/527), prostate 2% (4/198), ovarian 15.6% (12/77), colorectal 26.6% (16/60) and pancreatic 11.9% (5/42). The frequency of recurrent, potentially founder PVs in their respective genes was as follows: BRCA1 del(exons9-12) 30.7% (12/39) and CHEK2 c.707T &gt; C 81.8% (9/11). Among the relatives referred for cascade testing the frequency of PV was 40% (118/295), 18.6% (55/295) had personal history of cancer with a median age at diagnosis of 47 years. Conclusions: Our results show a wide spectrum and a variable frequency of PVs among one of the largest examined cohorts of Mexican patients with cancer, with a high frequency of PVs among cases of breast, ovarian, and colorectal cancer. In contrast to reports from other populations, there was very low frequency of PVs among patients with prostate cancer. The outcomes of this study add to our understanding of the genetic epidemiology of cancer in the Mexican population, and support creating GCRA programs to improve access to multi-gene panel testing among underrepresented patients in limited resource settings.

Uneven resources threaten causal consistency in randomized trials.

1. Department of Medical Education, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico. Vasco de Quiroga # 15, Belisario Domínguez Sección XVI, Tlalpan, Mexico City, 14080, Mexico. Email: [email protected]; Phone: 55 5487 0900. 2. Division of Postgraduate Studies, Faculty of Medicine, Universidad Nacional Autónoma de México, Mexico City, Mexico. 3. Metabolic Diseases Research Unit, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico. Financial support: none. Data availability statement: no new data was used for this manuscript. Funding: The authors declare that no funds, grants, or other support were received during the preparation of this manuscript. Competing interests: The authors have no relevant financial or non-financial interests to disclose. Ethics approval: Not applicable. * Corresponding author

Abstract P6-02-05: Prevalence of non-BRCA germline pathogenic variants in Mexican women with breast cancer referred for genetic cancer risk assessment

Abstract Background: The prevalence of germline pathogenic variants in Mexican women with breast cancer who met the reference criteria for genetic cancer risk assessment (GCRA) has been previously reported as close to 20%. However, information regarding the spectrum of gPVs in genes other than BRCA in this population is limited. Methods: This prospective study included Mexican women who were diagnosed with BC and met international criteria for GCRA. Participants were enrolled in the Clinical Cancer Genomics Community Research Network (CCGCRN) registry and at two referral breast cancer centers in Mexico, the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City and at the Hospital Zambrano Hellion TecSalud, Monterrey. Participants underwent multigene panel testing (MGPT) for 37 cancer susceptibility genes. For this analysis, only the results of pathogenic and likely pathogenic variants in the index cases were reported. The demographic and molecular characteristics of the variants are described here. Results: From August 2017 to September 2021, 1020 Mexican women with BC underwent MGPT, with a median age at diagnosis of 41 y (range 20-86), of whom 206 (20.2%) were carriers. 208 gPVs were identified with BRCA1/2 representing 70% (145/208) of the gPVs (BRCA1 n=89, BRCA2 n=56). 63 (30%) of gPVs were identified in genes other than BRCA (CHEK2 n=21, PALB2 n=13, TP53 n=7, RAD51C n=5, ATM n=4, NF1 n=3, PTEN n=2, MUTYH homozygous n=2, RAD50 n=1, BRIP1 n=1, CDH1 n=1, NBN n=1, MSH2 n=1 and MSH6 n=1). The recurrent variants previously proposed as founders in the Hispanic population were frequent among those identified in their respective genes: CHEK2 c.707T&amp;gt;C 81% (17/21), PALB2 c.2167_2168delAT 46% (6/13) and BRCA1 del(exons 9-12) 18% (16/89). As a group, the 4 most frequent genes where gPVs were identified (BRCA1, BRCA2, CHEK2 and PALB2) represented 86% (179/208) of the positive results. Conclusion: Among the variants identified in this population of Mexican women with BC, the proportion of gPVs in genes other than BRCA was significant (about 1 out of 3 pts), which justifies the use of MGPT in the assessment of our population. However, a tailored panel (sequencing of BRCA1/BRCA2/CHEK2/PALB2 and MLPA for BRCA1) could be proposed in areas of Mexico with limited medical resources, including the analysis of other genes in selected patients according to clinical suspicion and family history of cancer. Citation Format: Yanin Chavarri-Guerra, Cynthia Villareal Garza, Jose Luis Rodriguez-Olivares, Dione Aguilar-y Mendez, Gregorio Quintero-Beulo, Francisco Gutierrez-Delgado, Josef Herzog, Stephen Gruber. Prevalence of non-BRCA germline pathogenic variants in Mexican women with breast cancer referred for genetic cancer risk assessment [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P6-02-05.