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病例报告:一名患有早期乳腺癌且存在种系致病变异的19岁西班牙裔年轻女性。

A Case Report: 19-Year-Old Hispanic Young Woman with Early-Stage Breast Cancer and a Germline Pathogenic Variant.

作者信息

Jones Tarsha, Zhang Alice, Freeman Katherine

机构信息

Florida Atlantic University, Christine E. Lynn College of Nursing, Boca Raton, FL 33431.

Florida Atlantic University Summer Institute in Biostatistics and Data Science Program Alumni; Data Science BA Candidate, Wellesley College, MA 02481.

出版信息

Med Res Arch. 2025 Feb;13(2). doi: 10.18103/mra.v13i2.6293. Epub 2025 Feb 8.

Abstract

BACKGROUND

Breast cancer (BC) is the most common cancer diagnosed in women globally and the leading cause of cancer-related deaths among younger women diagnosed between the ages of 20-49 years in the United States (US). Although the median age of BC diagnosis is 62 years overall, recent data show that early-onset BC is on the rise in young people. Black and Hispanic women are disproportionately affected by BC, often diagnosed at a younger age, and BC is the leading cause of cancer-related deaths for both groups of women. The aim of this report is to present the unique case of a young adult Hispanic woman diagnosed with early-stage BC. Younger women with BC face unique biological and psychosocial challenges compared to older post-menopausal women. Additionally, young breast cancer survivors (YBCS) are at an increased risk of BC recurrence. Therefore, there is a critical need to develop interventions that are tailored to the cultural and age-specific needs of racial and ethnic minority women to promote cancer risk-reduction and to improve health outcomes.

METHOD CASE REPORT

We present the case of a 19-year-old Hispanic female with no family history of breast cancer (BC), who was diagnosed with ductal carcinoma in situ (DCIS). Initially diagnosed in 2018, she received treatment at a comprehensive cancer center. At the time of diagnosis, she completed multigene panel testing to identify hereditary cancer risk. The testing revealed a pathogenic variant in the gene. The patient underwent a bilateral mastectomy as part of her treatment plan due to her high-risk status. Five years post-diagnosis, in 2023 she joined our NIH-funded research study focused on investigating the experiences and needs of young breast cancer survivors (YBCS) from diverse racial and ethnic backgrounds.

CONCLUSION

Women are being diagnosed with BC at increasingly younger ages. This case underscores the need to increase awareness about risk factors among diverse younger women and highlights the critical role of genetic testing in identifying hereditary breast and ovarian cancer (HBOC) syndrome and using that knowledge for informed decision-making. This is especially important for racial and ethnic minority women who suffer disproportionately from BC outcomes. Furthermore, it emphasizes the importance of a holistic approach to care, grounded in caring science, which prioritizes the well-being of the whole person. Nurses, in collaboration with other healthcare providers, are in a unique position to positively impact the lives of young breast cancer patients, survivors, and those at high-risk for developing the disease. By advocating for early detection, tailored age-appropriate interventions, and comprehensive support, nurses can significantly improve health outcomes and empower young women to live longer, healthier lives. Future research should investigate the complex interaction between biological, psychological, social, and environmental factors in order to reduce cancer health disparities and improve health for all.

摘要

背景

乳腺癌(BC)是全球女性中诊断出的最常见癌症,也是美国20至49岁被诊断出的年轻女性中癌症相关死亡的主要原因。尽管BC诊断的中位年龄总体为62岁,但最近的数据显示,年轻人中的早发性BC正在上升。黑人女性和西班牙裔女性受BC的影响尤为严重,她们往往在较年轻时被诊断出,并且BC是这两组女性癌症相关死亡的主要原因。本报告的目的是介绍一名被诊断为早期BC的年轻成年西班牙裔女性的独特病例。与绝经后的老年女性相比,患有BC的年轻女性面临着独特的生物学和心理社会挑战。此外,年轻乳腺癌幸存者(YBCS)的BC复发风险增加。因此,迫切需要制定针对种族和少数族裔女性的文化和年龄特定需求的干预措施,以促进降低癌症风险并改善健康结果。

方法病例报告

我们介绍了一名19岁的西班牙裔女性病例,她没有乳腺癌(BC)家族史,被诊断为原位导管癌(DCIS)。最初于2018年被诊断出,她在一家综合癌症中心接受了治疗。在诊断时,她完成了多基因检测以确定遗传性癌症风险。检测发现该基因存在致病性变异。由于她的高风险状态,患者接受了双侧乳房切除术作为治疗计划的一部分。诊断后五年,即2023年,她加入了我们由美国国立卫生研究院资助的研究项目,该项目专注于调查来自不同种族和族裔背景的年轻乳腺癌幸存者(YBCS)的经历和需求。

结论

女性被诊断出患有BC的年龄越来越小。该病例强调了提高不同年轻女性对风险因素认识的必要性,并突出了基因检测在识别遗传性乳腺癌和卵巢癌(HBOC)综合征以及利用这些知识进行明智决策方面的关键作用。这对于在BC结果方面受影响尤为严重的种族和少数族裔女性尤为重要。此外,它强调了基于关怀科学的整体护理方法的重要性,这种方法将整个人的福祉放在首位。护士与其他医疗保健提供者合作,处于积极影响年轻乳腺癌患者、幸存者以及那些患该病高风险人群生活的独特位置。通过倡导早期检测、量身定制的适龄干预措施和全面支持,护士可以显著改善健康结果,并使年轻女性能够过上更长寿、更健康的生活。未来的研究应调查生物学、心理、社会和环境因素之间的复杂相互作用,以减少癌症健康差距并改善所有人的健康。

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