Lowe Tracy, DeLuca Jane, Abenavoli Ludovico, Boccuto Luigi
School of Nursing, Clemson University, Clemson, SC, 29634, USA.
, Clemson, USA.
Hered Cancer Clin Pract. 2023 Sep 8;21(1):17. doi: 10.1186/s13053-023-00261-5.
Familial pancreatic cancer touches families through a genetic susceptibility to developing this neoplasia. Genetic susceptibility is assessed via family history, genetic testing, or both. Individuals with two or more first-degree relatives or three or more relatives of any degree diagnosed with pancreatic cancer are considered at elevated risk. Following a diagnosis of familial pancreatic cancer, patients and families face uncertainty and anxiety about the future. Psychosocial effects of a pancreatic cancer diagnosis on families include fear, concerns about personal health, and how lifestyle may impact the risk of developing pancreatic cancer.
A 66-year-old male was diagnosed with pancreatic ductal adenocarcinoma stage IIB, T3, N1, M0. A genetic referral was made due to a history of multiple cases of pancreatic cancer within the patient's family. Genetic testing revealed the patient had a pathogenic variant in the ATM gene that is associated with an increased risk for pancreatic cancer development. The patient's one adult child was offered testing due to the autosomal dominant pattern of inheritance for this variant. The adult child was found to have the same pathogenic variant. She expressed fear for her future and her child's future health and longevity. Discussing a case study allows us to capture the multi-faceted relationship between the disease, the affected individuals, and their families. Examining the psychosocial stresses and concerns when there is a pancreatic cancer diagnosis in the family is essential to provide holistic care to patients and families.
The psychosocial effects of FPC may be overwhelming for patients and families. Healthcare providers can offer education, support, and referrals to appropriate services to help families cope through stages of evaluation, diagnosis, and treatment of FPC.
家族性胰腺癌通过遗传易感性影响家庭，这种遗传易感性会导致患这种肿瘤。遗传易感性通过家族史、基因检测或两者来评估。有两个或更多一级亲属或三个或更多任何级别的亲属被诊断患有胰腺癌的个体被认为处于高风险中。在被诊断为家族性胰腺癌后，患者及其家人对未来感到不确定和焦虑。胰腺癌诊断对家庭的心理社会影响包括恐惧、对个人健康的担忧以及生活方式可能如何影响患胰腺癌的风险。
一名66岁男性被诊断为IIB期胰腺导管腺癌，T3，N1，M0。由于患者家族中有多例胰腺癌病史，因此进行了基因转诊。基因检测显示该患者在ATM基因中有一个致病变异，这与患胰腺癌风险增加有关。由于该变异的常染色体显性遗传模式，患者的一名成年子女接受了检测。发现该成年子女有相同的致病变异。她对自己和孩子未来的健康及寿命表示担忧。讨论一个案例研究可以让我们了解疾病、受影响个体及其家庭之间的多方面关系。在家庭中出现胰腺癌诊断时，检查心理社会压力和担忧对于为患者及其家庭提供全面护理至关重要。
家族性胰腺癌对患者及其家庭的心理社会影响可能是巨大的。医疗保健提供者可以提供教育、支持并转介至适当的服务，以帮助家庭应对家族性胰腺癌评估、诊断和治疗的各个阶段。
