Avoiding Harmful Procedures in Patients With Elevated α-Fetoprotein Concentrations

Bonfig, Walter; Hempel, Maja; Lüttichau, Irene Teichert-von; Liptay, Susanne; Burdach, Stefan

doi:10.1097/mph.0b013e3182441256

Cited by 4 publications

(2 citation statements)

References 12 publications

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“…In a patient with AFP levels above 500 ng/mL, generally three conditions are usually suspected: Hepatocellular carcinoma, germ cell tumors, and liver metastasis from tumors with a primary origin elsewhere 8 . In our case, AFP levels were always above 50000 ng/mL in repeated measurements, so these three reasons were investigated in detail.…”

Section: Discussionmentioning

confidence: 99%

If AFP is elevated, where is cancer? The case report on hereditary persistence of Alpha-fetoprotein

SARACOGLU¹,

BASKOL²,

SARACOGLU

2022

Mal. Med. J

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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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Section: Discussionmentioning

confidence: 99%

If AFP is elevated, where is cancer? The case report on hereditary persistence of Alpha-fetoprotein

SARACOGLU¹,

BASKOL²,

SARACOGLU

2022

Mal. Med. J

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“…However, none of these markers are specific for GCTs and may be expressed in other tumors such as hepatoblastoma, as well as non‐oncological conditions such as anatomical neural tube defect and diabetes, limiting their diagnostic and follow‐up utility. Therefore, more specific biomarkers are needed for accurate diagnosis, prognosis, and therapy monitoring in pediatric GCTs [ 6 , 9 ]. Exploring miRNA signatures adapted to each GCT histological subtype is crucial.…”

Section: Introductionmentioning

confidence: 99%

Comprehensive microRNA expression analysis of pediatric gonadal germ cell tumors: unveiling novel biomarkers and signatures

Santarosa Vieira,

da Silva,

Albino da Silva

et al. 2024

Molecular Oncology

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microRNAs (miRNAs) are small endogenous noncoding RNAs, and alterations in their expression may contribute to oncogenesis. Discovering a unique miRNA pattern holds the potential for early detection and novel treatment possibilities in cancer. This study aimed to evaluate miRNA expression in pediatric patients with gonadal germ cell tumors (GCTs), focusing on characterizing the miRNA profiles of each histological subtype and identifying a distinct histological miRNA signature for a total of 42 samples of pediatric gonadal GCTs. The analysis revealed distinct miRNA expression profiles for all histological types, regardless of the primary site. We identified specific miRNA expression signatures for each histological type, including 34 miRNAs for dysgerminomas, 13 for embryonal carcinomas, 25 for yolk sac tumors, and one for immature teratoma, compared to healthy controls. Furthermore, we identified 26 miRNAs that were commonly expressed in malignant tumors, with six miRNAs (miR‐302a‐3p, miR‐302b‐3p, miR‐371a‐5p, miR‐372‐3p, miR‐373‐3p, and miR‐367‐3p) showing significant overexpression. Notably, miR‐302b‐3p exhibited a significant association with all the evaluated clinical features. Our findings suggest that miRNAs have the potential to aid in the diagnosis, prognosis, and management of patients with malignant GCTs.

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Hereditary Persistence of Alpha-Fetoprotein Is Associated with the —119G>A Polymorphism in AFP Gene

Deshpande

Chavan

Bale

et al. 2017

ACG Case Reports Journal

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Alpha-fetoprotein (AFP) is a glycoprotein that is produced by the liver and yolk sac during fetal development. Its levels are usually raised in malignant conditions. Hereditary persistence of AFP (HPAFP) is a rare benign condition with elevated levels of AFP. It is inherited in a dominant mode with complete penetrance and is usually not associated with any clinical disability. We report two individuals with elevated levels of AFP harboring the −119G>A polymorphism in the AFP gene. A genetic screening to rule out variants in the AFP gene is advised in cases with unexplained persistent AFP levels to avoid inappropriate treatment and surgical options.

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Avoiding Harmful Procedures in Patients With Elevated α-Fetoprotein Concentrations

Abstract: It is important to include hereditary persistence of AFP in the differential diagnosis of elevated AFP concentrations to avoid harmful procedures.

Cited by 4 publications

References 12 publications

If AFP is elevated, where is cancer? The case report on hereditary persistence of Alpha-fetoprotein

If AFP is elevated, where is cancer? The case report on hereditary persistence of Alpha-fetoprotein

Comprehensive microRNA expression analysis of pediatric gonadal germ cell tumors: unveiling novel biomarkers and signatures

Hereditary Persistence of Alpha-Fetoprotein Is Associated with the —119G>A Polymorphism in AFP Gene

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