家族性腺瘤性息肉病患者30年随访观察。

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY
Boris Cleret de Langavant, Jéremie H Lefèvre, Julie Metras, Antoine Dardenne, Lauren V O'Connell, Maxime Collard, Yann Parc
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引用次数: 0

摘要

家族性腺瘤性息肉病是一种遗传性遗传病,可导致多种异常。终身监测方案对于发现和预防不良发展至关重要。然而,关于这些计划的长期可行性的数据有限。本研究旨在评估家族性腺瘤性息肉病患者的依从性。该研究整理了1981年1月至1993年12月期间接受手术的所有患者的数据,不包括非法国居民。记录的特征包括病史、随访结果、手术或其他手术的适应症、这些干预措施的结果以及随访期结束时的患者状态。共纳入164例患者,其中女性86例(52.4%)。结直肠切除术时的中位年龄为29.6岁[10-67]。36例(22.0%)在手术时被诊断为癌症。58例(35.3%)患者死亡,中位年龄52岁[18-95]。在随访期间,47例患者发生十二指肠或贮液腺瘤,需要侵入性手术,或硬纤维瘤需要治疗。在可能30年的随访后,49名幸存者(46.2%)仍在观察中,57名幸存者(53.8%)失去了随访。随访30年后,仍在观察的患者生存率为74.2%,而未随访的患者生存率仅为58.2%。家族性腺瘤性息肉病患者的长期随访与高随访失踪率相关。然而,那些仍在观察中的患者预后良好。了解流失的原因是具有挑战性的,但可能有助于降低这种高流失率。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis.

Familial adenomatous polyposis is an inherited genetic disorder responsible for multiple anomalies. Lifelong surveillance protocols are essential to detect and prevent adverse developments. However, limited data exist regarding the long-term feasibility of such programs. This study aims to evaluate the compliance with a surveillance program for patients with familial adenomatous polyposis. The study collated data from all patients who underwent surgery between January 1981 and December 1993, excluding non-French residents. Recorded characteristics included medical history, follow-up results, the indications for operations or other procedures, outcomes of these interventions, and patient status at the end of the follow-up period. One hundred and sixty-four patients were enrolled, comprising 86 females (52.4%). The median age at the time of colorectal resection was 29.6 years [10-67]. Thirty-six (22.0%) were diagnosed with cancer at the time of their surgery. Fifty-eight patients (35.3%) passed away at a median age of 52 years [18-95]. During the follow-up period, 47 patients developed duodenal or reservoir adenomas requiring invasive procedures, or desmoid tumors necessitating treatment. After a possible 30 years of follow-up, 49 survivors (46.2%) are still under observation, while 57 (53.8%) have been lost to follow-up. After 30 years of follow-up, the survival rate was 74.2% for patients who remained under observation, but only 58.2% for those lost to follow-up. Long-term follow-up of patients with familial adenomatous polyposis is associated with a high rate of loss to follow-up. However, those who remain under observation maintain an excellent prognosis. Understanding the reasons for loss to follow-up is challenging but may help in reducing this high attrition rate.

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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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