Rising Camella J, Forbes Shepherd Rowan, Sleight Alix G, Boyd Patrick, Wilsnack Catherine, Thompson Ashley S, Huelsnitz Chloe O, Hutson Sadie P, Khincha Payal P, Werner-Lin Allison
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Department of Occupational Science and Occupational Therapy, University of Southern California, Los Angeles, California, USA.
J Adolesc Young Adult Oncol. 2025 Apr;14(2):151-159. doi: 10.1089/jayao.2024.0103. Epub 2024 Sep 27.
Adolescents and young adults (AYAs) with cancer predisposition syndromes often experience significant physical and psychosocial burdens. These burdens include cancer worry and potentially distressing bodily changes due to risk-reducing procedures (e.g., mastectomy) or cancer treatments. This qualitative-descriptive study explored how AYAs with Li-Fraumeni syndrome (LFS) relate and adjust to their bodies under the chronic threat of cancer. Participants were enrolled in the National Cancer Institute's LFS study. This analysis included 42 AYAs with LFS aged 15-39 years at enrollment who completed one or two telephone interviews that explored LFS-related bodily experiences and challenges. Transcripts were thematically analyzed. The majority of participants ( = 26/42, 62%) had ≥1 primary cancer. The mean age at first cancer diagnosis was 21 years (range = 0.5-35 years). Participants described challenges relating to the body due to frequent self-monitoring, whole-body magnetic resonance imaging scans, risk-reducing surgeries, and/or cancer treatments. Heightened body awareness and vigilance not only prompted self-protective behaviors but also triggered worry and distress. AYAs coped with bodily changes and concerns by seeking doctors' reassurance, engaging in health-protective behaviors, and reframing perceptions of their altered bodies. Findings suggest AYAs with cancer predisposition syndromes such as LFS experience difficulties relating and adjusting to the body that may compromise psychosocial health. Our results demonstrate that these difficulties may arise across the time course of genetic disease, including before a cancer diagnosis. Clinicians might support AYAs by conducting routine psychosocial risk assessments, providing anticipatory guidance regarding body-related challenges, sharing peer support resources, and referring to mental health providers, as needed.
患有癌症易感综合征的青少年和青年（AYA）常常承受着巨大的身体和心理社会负担。这些负担包括对癌症的担忧以及因降低风险的手术（如乳房切除术）或癌症治疗导致的可能令人痛苦的身体变化。这项定性描述性研究探讨了患有李-弗劳梅尼综合征（LFS）的AYA在癌症的长期威胁下如何与自己的身体建立联系并进行调整。参与者被纳入了美国国立癌症研究所的LFS研究。该分析包括42名在入组时年龄为15 - 39岁的患有LFS的AYA，他们完成了一到两次电话访谈，探讨了与LFS相关的身体经历和挑战。对访谈记录进行了主题分析。大多数参与者（ = 26/42，62%）患有≥1种原发性癌症。首次癌症诊断的平均年龄为21岁（范围 = 0.5 - 35岁）。参与者描述了由于频繁的自我监测、全身磁共振成像扫描、降低风险的手术和/或癌症治疗而与身体相关的挑战。增强的身体意识和警惕性不仅促使了自我保护行为，还引发了担忧和困扰。患有LFS的AYA通过寻求医生的安心保证、采取健康保护行为以及重新构建对其改变的身体的认知来应对身体变化和担忧。研究结果表明，患有LFS等癌症易感综合征的AYA在与身体建立联系和调整方面存在困难，这可能会损害心理社会健康。我们的结果表明，这些困难可能在遗传疾病的整个病程中出现，包括在癌症诊断之前。临床医生可以通过进行常规的心理社会风险评估、提供有关与身体相关挑战的预期指导、分享同伴支持资源以及在需要时转介至心理健康服务提供者来支持患有LFS的AYA。
