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营养基因组学和营养生物标志物在长期复发性转移性直肠癌标准治疗中的应用:病例报告

The use of nutrigenomics and nutritional biomarkers with standard care of long-term recurrent metastatic rectal cancer: a case report.

作者信息

Brinkman Maree T, Crofts Sam, Green Hayden

机构信息

Department of Clinical Studies and Nutritional Epidemiology, Nutrition Biomed Research Institute, Melbourne, VIC, Australia.

出版信息

Front Oncol. 2024 Dec 2;14:1451675. doi: 10.3389/fonc.2024.1451675. eCollection 2024.

Abstract

INTRODUCTION

Distant metastases following standard treatment for locally advanced rectal cancer (LARC) are typically associated with poor disease-free survival. We report on a 52-year-old Australian male of Dutch ancestry with no family history of colorectal cancer or significant medical history who experienced bleeding per rectum for several months prior to a colonoscopy in July 2010. He was subsequently diagnosed with Stage IIb LARC.

CASE PRESENTATION

Despite treatment with curative intent, a distant recurrence to his left lung was detected in May 2012, upstaging him to Stage IV rectal cancer. He had repeated distant metastatic recurrences over the next 8 years, and treatment included multiple surgeries, chemotherapies, radiation treatments, a "watch and wait" period of 20 months, and personalised dietary management. Genetic and nutrigenomic testing identified that the case had and mutations. As part of his dietary management, the case also had his levels of folate, vitamin B12, and vitamin D regularly monitored because of his genetic predisposition and history of deficiency for these key nutrients. Apart from changes in his CEA levels, sudden increases in the patient's folate levels, inconsistent with dietary exposures preceded detection of each new distant recurrence, with significant decreases in the levels at the next follow-up measurement.

CONCLUSION

A multimodal approach to this patient's management appeared to contribute to his long-term survival of nearly 10 years from the initial diagnosis. Multidisciplinary management, including the use of additional biomarkers, may enhance survival rates in other similar cases with advanced disease resistant to differing therapies, and with potentially poor prognosis.

摘要

引言

局部晚期直肠癌(LARC)标准治疗后出现远处转移通常与无病生存期较差相关。我们报告一例52岁有荷兰血统的澳大利亚男性,他无结直肠癌家族史或重大病史,在2010年7月结肠镜检查前数月出现便血。随后他被诊断为IIb期LARC。

病例介绍

尽管进行了根治性治疗,但2012年5月仍检测到其左肺出现远处复发,疾病分期升为IV期直肠癌。在接下来的8年里他多次出现远处转移复发,治疗包括多次手术、化疗、放疗、20个月的“观察等待”期以及个性化饮食管理。基因和营养基因组检测发现该病例存在 和 突变。作为其饮食管理的一部分,由于他的基因易感性以及这些关键营养素缺乏史,该病例还定期监测叶酸、维生素B12和维生素D水平。除癌胚抗原(CEA)水平变化外,在每次新的远处复发检测前,患者叶酸水平突然升高,与饮食摄入情况不符,而下一次随访测量时水平显著下降。

结论

对该患者采用多模式管理方法似乎有助于他从初次诊断起获得近10年的长期生存。多学科管理,包括使用额外的生物标志物,可能提高其他类似的对不同疗法耐药且预后可能较差的晚期疾病患者的生存率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2702/11646835/5cc325b24a9c/fonc-14-1451675-g001.jpg

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