如果AFP升高,癌症在哪里?甲胎蛋白遗传性持久性1例报告

IF 1.2 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Malawi Medical Journal Pub Date : 2022-12-01 DOI:10.4314/mmj.v34i4.11
Hatice Saracoglu, Mevlut Baskol, Hakan Saracoglu, Gulden Baskol
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引用次数: 0

摘要

甲胎蛋白(AFP)在肝细胞癌和生殖细胞肿瘤等有丝分裂指数高的肿瘤中表达,因此被用作肿瘤生物标志物。有趣的是,尽管没有根本原因,但据报道,在一些遗传易感的个体中,AFP升高。这是一种非常罕见的良性疾病,称为“遗传性AFP持续性(HPAFP)”,是一种以常染色体显性遗传方式遗传的疾病。据我们所知,迄今为止只报告了28个家庭。一些报告的病例接受了不适当的治疗,如化疗和手术。在没有肝细胞癌或生殖细胞肿瘤的放射学证据的情况下,高AFP患者应牢记HPAFP的可能性,以避免有害的手术。通过分析其他家庭成员的AFP水平可以很容易地证实这一点。我们报告了一例HPAFP病例,其AFP水平比之前报告的病例高得惊人,这是土耳其报告的第一例病例。
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If AFP is elevated, where is cancer? The case report on hereditary persistence of Alpha-fetoprotein.

Alpha-fetoprotein (AFP) is expressed by tumors with a high mitotic index such as hepatocellular carcinoma and germ cell tumors, therefore it is used as a tumor biomarker. Interestingly, although there is no underlying cause, elevated AFP has been reported in some genetically predisposed individuals. This is a very rare and benign condition called "hereditary persistence of AFP (HPAFP)" and an inherited in an autosomal dominant manner. To our knowledge, only 28 families have been reported to date. Some of the reported cases received inappropriate treatments such as chemotherapy and surgery. The possibility of HPAFP should be kept in mind in patients with high AFP in the absence of radiological evidence of hepatocellular carcinoma or germ cell tumor to avoid harmful procedures. It can be easily confirmed by analyzing AFP levels in other family members. We report a case of HPAFP with surprisingly higher AFP levels than previously reported cases and this is the first case reported from Turkey.

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来源期刊
Malawi Medical Journal
Malawi Medical Journal Medicine-General Medicine
CiteScore
1.50
自引率
0.00%
发文量
27
审稿时长
>12 weeks
期刊介绍: Driven and guided by the priorities articulated in the Malawi National Health Research Agenda, the Malawi Medical Journal publishes original research, short reports, case reports, viewpoints, insightful editorials and commentaries that are of high quality, informative and applicable to the Malawian and sub-Saharan Africa regions. Our particular interest is to publish evidence-based research that impacts and informs national health policies and medical practice in Malawi and the broader region. Topics covered in the journal include, but are not limited to: - Communicable diseases (HIV and AIDS, Malaria, TB, etc.) - Non-communicable diseases (Cardiovascular diseases, cancer, diabetes, etc.) - Sexual and Reproductive Health (Adolescent health, education, pregnancy and abortion, STDs and HIV and AIDS, etc.) - Mental health - Environmental health - Nutrition - Health systems and health policy (Leadership, ethics, and governance) - Community systems strengthening research - Injury, trauma, and surgical disorders
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