Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.

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.

Internet-Delivered Cognitive Behavioral Therapy and Psychoeducation Program for Patients with Gastrointestinal Stromal Tumors.

Gastrointestinal stromal tumors (GIST) account for 0.2-3% of all cancer diagnoses and are thus considered a rare type of cancer. Severe levels of fatigue occur in 33% of patients on imatinib, but besides treatment, fatigue is also associated with psychological distress. As far as we know, only one previous study has reported on the design of a psychoeducational intervention for caregivers and patients with GIST. The current study was conducted to compare the preliminary effectiveness of an Internet-delivered cognitive behavioral stress management intervention and psychoeducation program for anxiety, depression, fatigue, and quality of life in patients with gastrointestinal stromal tumors (GIST). This study had an experimental pre-test post-test design with a control group. Ninety-nine patients were randomly allocated to an Internet-delivered cognitive program (n = 50) or psychoeducation control group (n = 49). Participants completed the questionnaires at three time points (pre-test, post-test, and 3-month follow-up). Twenty-seven participants completed the intervention. A significant interaction effect between groups and time was found for general fatigue [F(2, 28) = 8.2, p < 0.001, ƞ2p = 0.25], reduced motivation [F(2, 28) = 3.5, p < 0.05, ƞ2p = 0.12], distress [F(2, 28) = 3.4, p < 0.05, ƞ2p = 0.12], and global health status [F(2, 28) = 3.8, p < 0.05, ƞ2p = 0.13]. Both intervention programs showed reductions in the dimensions of fatigue and improvements in distress and dimensions of quality of life. Additional research on a larger sample size is needed to confirm the effects obtained in this study.

Psychological Distress, Fatigue and Quality of Life in Patients with Gastrointestinal Stromal Tumors.

Background: Gastrointestinal stromal tumors (GIST) represent 1% of all gastrointestinal tumors and are included in the list of rare diseases. Objective: 1) To evaluate levels of psychological distress, fatigue, and quality of life. 2) To identify the variables that most influence distress among Mexican patients with GIST. Design: A cross-sectional study was conducted with a consecutive sample of 100 patients with GIST, who completed the following questionnaires online: Hospital Anxiety and Depression Scale (HADS) as a measure of distress, Multidimensional Fatigue Inventory (MFI), and Quality of Life Questionnaire (QLQ C30). Results: Distress was present in 31% of patients. No association was found between distress and sociodemographic/clinical variables. The patients with distress demonstrated higher scores in all fatigue dimensions and, regarding quality of life, had more symptoms and were lower functioning. Distress was positively associated with all fatigue dimensions and with QLQ C30 symptoms. Negative associations were found between distress and QLQ C30 functioning dimensions. The predictors of psychological distress were general fatigue, reduced motivation, and emotional functioning. Conclusion: The percentage of patients with distress was akin to the levels found in patients with the most common types of cancer. Fatigue in patients with GIST should be evaluated and managed to improve distress levels.

Post-traumatic Stress Symptoms, Distress, and Optimism in Mexican Colorectal Cancer Patients.

Background: The diagnosis and treatment of colorectal cancer are considered highly stressful and potentially traumatic events that can generate post-traumatic stress symptoms and distress among patients. Objective: This study assessed levels of post-traumatic stress symptoms, distress, and optimism, as well as differences between these conditions relative to sociodemographic and medical variables, in Mexican patients with colorectal cancer. Design: A cross-sectional descriptive study design was employed, in which 192 colorectal cancer patients over the age of 18 years participated. They filled out the following questionnaires in person: a sociodemographic and medical data questionnaire; the Event Impact Scale-Revised (EIE-R); the Hospital Anxiety and Depression Scale (HADS); and the Life Orientation Test (LOT-R). Results: The results showed that 32.3% of the patients reported post-traumatic stress symptomatology, and 21.4% reported distress. Post-traumatic stress symptoms and distress varied according to age and monthly income. Significant differences between the sexes were also observed in the levels of post-traumatic stress symptoms and distress. Post-traumatic stress was positively and significantly related to distress, and negatively and significantly to optimism. Conclusion: Based on these data, we concluded that a significant percentage of colorectal cancer patients present high levels of post-traumatic stress symptoms as well as distress, and that these levels may vary according to sociodemographic and medical characteristics.

Quality of life in Mexican colorectal cancer patients: analysis with sociodemographic, medical, and psychological variables.

In this study, we evaluated the influence of sex, age, clinical stage, and colostomy/ileostomy variables on the quality of life of Mexican patients with colorectal cancer. Using a descriptive cross-sectional design, 192 colorectal cancer patients were included in the study. Significant differences were observed in emotional functioning between patients with rectal cancer and those with colon cancer. Presence of colostomy/ileostomy was associated with significantly impaired social functioning. Body image was significantly different based on gender and diagnosis. Likewise, significant differences were observed with respect to symptoms of the general and specific quality of life modules for colorectal cancer: these included significant difference between male and female patients with respect to taste; significant difference between rectal and colon cancer with respect to presence of blood and mucous in stool, urinary incontinence, and buttock pain; and significant difference between patients with and without colostomy/ileostomy with respect to constipation, stool frequency, sore skin, and embarrassment. We observed significant correlation of dimensions of the quality of life with distress, post-traumatic stress, and optimism. Interventions for improving the quality of life of patients with colorectal cancer should be individualized based on the specific diagnosis and the presence/absence of colostomy/ileostomy.

Cociente ganglionar como factor pronóstico de recurrencia tumoral en pacientes con carcinoma escamoso de cavidad oral.

BACKGROUND: The lymph node ratio (LNR) is a recent tool, but its predictive value for recurrence is uncertain. OBJECTIVE: To evaluate LNR as a prognostic factor for disease-free survival (DFS) in patients with oral squamous cell carcinoma. METHOD: Retrospective observational study. Patients with oral squamous cell carcinoma undergoing resection and lymph node dissection. Chi squared, Kaplan-Meier, log rank and Cox regression tests were run; bilateral p ≤ 0.05 determined statistical significance. RESULTS: 88 patients were included, 45% (n = 40) men and 54% (n = 48) women, mean age of 60.42 (± 14.28) years. Main tumor location in tongue (75%); 61% in clinical stage I-III and 39% in clinical stage IV. Population was divided into LNR < 0.06 (58%) and LNR ≥ 0.06 (42%). The median DFS was not reached for both groups (p = 0.018). Predictors of DFS were the LNR (p = 0.024; hazard ratio [HR]: 2.20; confidence interval of 95% [95% CI]: 1.11-4.39) and the clinical stage (p = 0.004; HR: 1.76; 95% CI: 1.19-2.59). In the multivariate analysis, predictors were not maintained (p = 0.227 and 0.191, respectively). CONCLUSIONS: Significant differences were observed in the DFS analysis, however, they were not predictive of local recurrence in the multivariate analysis.

ANTECEDENTES: El cociente ganglionar (LNR) es una herramienta reciente, pero su valor predictivo de recurrencia es incierto. OBJETIVO: Evaluar el LNR como factor pronóstico de supervivencia libre de enfermedad (SLE) en pacientes con carcinoma oral de células escamosas. MÉTODO: Estudio retrospectivo observacional. Pacientes con carcinoma oral de células escamosas sometidos a resección y disección ganglionar. Se aplicaroon las pruebas de ji al cuadrado, Kaplan-Meier, log rank y regresión de Cox; se consideró estadísticamente significativo p ≤ 0.05 bilateral. RESULTADOS: Fueron incluidos 88 pacientes, el 45% (n = 40) hombres y el 54% (n = 48) mujeres, con una edad media de 60.42 (± 14.28) años. La principal localización tumoral fue la lengua (75%); el 61% en etapa I-III y el 39% en etapa IV. Se dividió en LNR < 0.06 (58%) y LNR ≥ 0.06 (42%). La mediana de SLE no fue alcanzada para ambos grupos (p = 0.018). Resultaron predictores de SLE el LNR (p = 0.024; hazard ratio [HR]: 2.20; intervalo de confianza del 95% [IC95%]: 1.11-4.39) y la etapa clínica (p = 0.004; HR: 1.76; IC95%: 1.19-2.59). En el análisis multivariado no se mantuvieron predictores (p = 0.227 y p = 0.191, respectivamente). CONCLUSIONES: Se observaron diferencias significativas en el análisis de SLE, pero no se mantuvieron como predictoras de recurrencia local en el análisis multivariado.

Cognitive Behavioral Stress Management intervention in Mexican colorectal cancer patients: Pilot study.

OBJECTIVE: Determine the feasibility and the preliminary effects of brief cognitive behavioral stress management (CBSM) intervention, compared with psychoeducation (PE) group in posttraumatic stress, distress, optimism, and quality of life in patients with colorectal cancer. METHODS: Ninety-four patients were randomized: 40 in CBSM intervention and 54 in PE. They answered psychological questionnaires before and after the intervention and 3 months later for follow-up. RESULTS: Of the included participants, 23.40% (22) completed the sessions (11 in each group). A significant effect was obtained in the variable of optimism F2,28  = 4.0, P = 0.03, ƞ2p  = 0.22 and a significant interaction effect between the groups in the avoidance behavior F2,28  = 6.0, P = 0.01, ƞ2p  = 0.30 and hyperactivation F2,30  = 3.91, P = 0.03, ƞ2p  = 0.20, with a large effect size in both. A significant interaction effect was found in the quality of life symptoms subscale for patients with colorectal cancer with a stoma F3,20  = 21.8, P = 0.00, ƞ2p  = 0.68. CONCLUSIONS: The CBSM intervention and PE are feasible therapies, albeit with some modifications. Preliminary effects are observed in the dimensions of posttraumatic stress and symptoms of quality of life.