子宫内膜癌女性中，与疑似林奇综合征诊断相关的心理社会和行为反应的异质性。

Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer.

作者信息

Jonnagadla Sowmya, Joseland Sharelle L, Saya Sibel, den Elzen Nicole, Isbister Joanne, Winship Ingrid M, Buchanan Daniel D

机构信息

Department of Clinical Pathology, Colorectal Oncogenomics Group, Melbourne Medical School, The University of Melbourne, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, Victoria, 3010, Australia.

The University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, 3000, Australia.

出版信息

Hered Cancer Clin Pract. 2022 Jul 15;20(1):27. doi: 10.1186/s13053-022-00233-1.

DOI:10.1186/s13053-022-00233-1

PMID:35840994

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9284782/

Abstract

BACKGROUND

A suspected Lynch syndrome (SLS) diagnosis is made when a tumor exhibits DNA mismatch repair deficiency but cannot be definitively assigned to an inherited or non-inherited etiology. This diagnosis poses challenges for healthcare professionals, patients, and their families in managing future cancer risks and clinical care.

METHODS

This qualitative study aimed to explore the psychosocial and behavioral responses of endometrial cancer (EC) patients receiving a SLS diagnosis (EC-SLS). Semi-structured telephone interviews were conducted with 15 EC-SLS women, transcribed, and thematically analyzed.

RESULTS

Most who interpreted their result as negative for Lynch syndrome (LS) believed they were at population-level risk of cancer and felt happy and relieved. Many participants who interpreted their result as inconclusive/not definitive for LS were confused about their cancer risk and experienced negative emotions of anger and frustration. Despite variation in colorectal cancer screening recommendations reported by participants, most adhered to the advice given. Almost all participants communicated their genetic test result to immediate family members; however, communication of family cancer risk management advice was more limited due to most participants reporting not receiving family screening advice. A family history of cancer and a professional healthcare background influenced participants' engagement in regular cancer screening.

CONCLUSION

These findings highlight variability in the psychosocial and behavioral responses associated with EC-SLS, providing insight into how healthcare professionals can optimally manage and support such individuals.

摘要

背景

当肿瘤表现出DNA错配修复缺陷但无法明确归因于遗传或非遗传病因时，会做出疑似林奇综合征（SLS）的诊断。这一诊断给医疗保健专业人员、患者及其家属在管理未来癌症风险和临床护理方面带来了挑战。

方法

这项定性研究旨在探讨接受SLS诊断的子宫内膜癌（EC）患者（EC-SLS）的心理社会和行为反应。对15名EC-SLS女性进行了半结构化电话访谈，进行了转录并进行了主题分析。

结果

大多数将其结果解释为林奇综合征（LS）阴性的人认为他们处于人群水平的癌症风险中，并感到高兴和宽慰。许多将其结果解释为LS不确定/不明确的参与者对自己的癌症风险感到困惑，并经历了愤怒和沮丧等负面情绪。尽管参与者报告的结直肠癌筛查建议存在差异，但大多数人都遵循了所给出的建议。几乎所有参与者都将他们的基因检测结果告知了直系亲属；然而，由于大多数参与者报告没有收到家庭筛查建议，家庭癌症风险管理建议的传达更为有限。癌症家族史和专业医疗背景影响了参与者进行定期癌症筛查的参与度。