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Background/Objectives: Li-Fraumeni Syndrome (LFS) is a rare hereditary cancer predisposition syndrome characterized by high lifetime risks for multiple primary malignancies. Although most individuals with LFS inherit a pathogenic TP53 variant from a parent, approximately 20% have de novo variants with no suggestive family cancer history. This may result in an LFS experience distinct from individuals with affected relatives. This multi-case study report examines the unique psychosocial experiences of three young adults with de novo TP53 variants. Method(s): The National Cancer Institute's LFS study (NCT01443468) recruited adolescents and young adults (AYAs;aged 15-39 years) with LFS for qualitative interviews. Three participants had a de novo TP53 variant and a personal cancer history. An interprofessional team analyzed interview data using extended case study and narrative methods. Result(s): De novo participants lacked familiarity with LFS to situate a cancer diagnosis, interpret genetic test results, or adjust to chronic cancer risk. Communicating with and receiving support from family was challenged by their lack of common experience. De novo participants experienced socioemotional isolation, which was amplified during the COVID-19 pandemic. To cope, they sought support in online rare disease communities or through mental health providers. Conclusion(s): Individuals with de novo variants may lack familial guides and familiar providers to address disease management and uncertainty. Specialty health and mental health providers may support de novo patients across hereditary cancer syndromes by validating their uncertainties and connecting them with diseasespecific patient advocacy groups that support adjustment to chronic cancer risk.
RESUMO
Background and Aim: Patients receiving infliximab maintenance therapy for inflammatory bowel disease (IBD) now have the option to switch from intravenous (IV) to subcutaneous (SC) infusion. Self-administered SC infliximab has already shown comparable efficacy to IV infliximab in relation to maintaining clinical and endoscopic remission. Furthermore, in the COVID-19 era, safe hospital avoidance is important in this immunocompromised cohort. Any clinician or patient hesitancy to switch to SC administration may be in part due to concerns about reduced serum trough levels achieved when compared with IV administration. All patients with IBD in our center are given the choice to transition from IV to SC administration if adherence is considered likely. We aimed to compare the infliximab serum trough levels of patients before and 3 months after transitioning to SC infliximab. Method(s): We prospectively entered data as we transitioned a cohort of 11 patients from IV to SC infliximab. Data collected included trough infliximab levels before and >=3 months after transitioning to SC administration, IBD phenotype, biometric data, C-reactive protein level, infliximab antibody formation, peak disease severity, endoscopic remission rates, calprotectin levels before and after transition, remission maintenance, and flare rates in both cohorts. Result(s): We recorded data for 11 patients, and preliminary findings show no evidence of lower trough levels once patients transitioned to SC infliximab. We will present more detailed findings, including average change in infliximab trough levels, rate of antibody formation, and disease activity rates. Conclusion(s): We found that almost all patients who transitioned to SC infliximab had the same, if not higher, serum trough levels when compared with IV infliximab. This should help reassure clinicians and patients who are considering transitioning to SC administration. Given the established evidence that higher infliximab drug levels pertain to higher rates of disease remission in certain phenotypes, this may suggest SC infliximab could be more efficacious in some patients. Furthermore, as we move through the COVID-19 pandemic, safe hospital avoidance is clearly beneficial for this immunocompromised cohort.