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Hereditary Persistence of Alpha-Fetoprotein


Presentation

  • The objectives of the present review are to compare the clinical manifestations and analyze the mutational basis of these two AFP genetic disorders in accordance with presently accepted models of AFP gene regulation.[jps.dergipark.gov.tr]
  • Confirm each diagnosis by consulting a section, organized by symptoms, that presents the full range of differential diagnoses and treatment options for each specific condition.[books.google.com]
  • [FIGURE 1 OMITTED] We present a simple test based on restriction fragment length polymorphism (RFLP) analysis for screening of HPAFP mutations.[thefreelibrary.com]
  • In the present case, a very low percentage of AFP-L2 and L3 indicated no residual or recurrent tumor.[academic.oup.com]
Anemia
  • […] are predictors of outcome: A report from the Children's Cancer Group Van Tornout, JM; Buckley, JD; Quinn, JJ detection of alpha‐fetoprotein mRNA in seminoma Yuasa, T; Yoshiki, T; Ogawa, O Constitutive elevation of serum alpha‐fetoprotein in Fanconi anemia[deepdyve.com]
  • Constitutive elevation ofserum alpha-fetoprotein in Fanconi anemia. Blood 2000;96:859863.18. Meuris B, Gewillig M, Meyns B. Extreme levels of alpha-fetoprotein in a newborn with a benign intrapericardial teratoma.Cardiol Young 2006;16:7677.19.[documents.tips]
Italian
  • Family 1 was of Bengali origin, and family 2 was Italian. Four of 5 subjects (family 1) and 3 of 9 (family 2) showed HPAFP. The AFP gene promoter was studied in all available family members.[ncbi.nlm.nih.gov]
  • The Italian and the American Association for the Study of Liver Diseases guideline considers an AFP level of 200 ng/mL to be diagnostic for HCC [ 11 ].[wjso.biomedcentral.com]
Tall Stature
  • Both had stable persistently elevated AFP levels [12,19].Clinically our patient was healthy except tall stature and advancedbone age, likely secondary to constitutional advanced growth.The molecular mechanism underlying HPAFP has been studiedin seven[documents.tips]
Accelerated Growth
  • The test was originally obtained as partof an extensive endocrine evaluation for accelerated growth andadvanced bone age (equivalent to 9 years and 6 months old). Aninitial AFP level was 55 ng/ml (normal disease.[documents.tips]
Long Arm
  • Hereditary persistence of α-fetoprotein maps to the long arm of chromosome 4 (abstr) Cytogenet Cell Genet 1985; 40:623.[link.springer.com]
Confusion
  • The unusualevolution of this child illustrates the confusing relationship betweenteratogenesis and tumorigenesis.REFERENCES1. Cass DL, Hawkins E, Brandt ML, et al.[documents.tips]
  • Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances This assay is intended only as an adjunct in the diagnosis and monitoring[mayomedicallaboratories.com]

Workup

  • After radical orchiectomy and a negative workup for metastatic disease, his AFP level dropped, but remained mildly elevated over the normal range for six months.[thedoctorsdoctor.com]
Polyps
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.com]
  • COPD Show details Chuvash Polycythemia Erythrocytosis, Familial type 2 Show details Cleft Lip/Palate and Wilms' Tumor, Familial Show details CLOVE syndrome Congenital Lipomatous Overgrowth, Vascular Malformations and Epidermal Nevi Show details Colonic Polyps[familialcancerdatabase.nl]

Treatment

  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.com]
  • Unexplained persistent AFP should lead to family study and/or AFP gene promoter sequencing to avoid inappropriate explorations and treatment decisions.[ncbi.nlm.nih.gov]
  • Knowledge of AFP reference levels might serve to guide the clinician in avoiding: a) misguided diagnoses; b) unnecessary treatments and therapies; and c) undue anxieties and stress during pregnant and non-pregnant states. alpha-fetoprotein, genetic disorder[jps.dergipark.gov.tr]
  • Knowledge of AFP reference levels might serve to guide the clinician in avoiding: a) misguided diagnoses; b) unnecessary treatments and therapies; and c) undue anxieties and stress during pregnant and non-pregnant states.[pediatricsciences.com]
  • Although HPAFP is a rare disorder, it needs to be considered and differentiated from tumors to avoid inappropriate explorations and treatment decisions.[thefreelibrary.com]

Prognosis

  • A nationwide study of granulosacell tumors in pre- and postpubertal girls: Missed diagnosis ofendocrine manifestations worsens prognosis.[documents.tips]
  • (REVIEW) PMID 21216289 Alpha-fetoprotein and prognosis in acute liver failure. Schiodt FV, Ostapowicz G, Murray N, Satyanarana R, Zaman A, Munoz S, Lee WM. Liver Transpl. 2006 Dec;12(12):1776-81.[atlasgeneticsoncology.org]
  • Extensive resection with a wide tumor margin is technically easier in HCC arising in a non-cirrhotic liver than a cirrhotic liver, resulting in a lower probability of recurrence and a better prognosis [ 23 – 26 ].[wjso.biomedcentral.com]

Etiology

  • S.FLORET NEOPLASM OF LIVER PRIMARY 1)BENIGN 2)MALIGNANT METASTATIC/SECONDARY LIVER Primary Liver Cancer the Second Killer among tumors high morbidity and mortality(20.40/100,000) etiology More information LIVER CANCER AND TUMOURS LIVER CANCER AND TUMOURS[docplayer.net]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Three specific polymorphisms in the AFP promoter gene have been pointed out as etiologic explanations for HPAFP ( 6 ). Nevertheless, neither known nor any other mutations were detected in the present patient.[academic.oup.com]

Epidemiology

  • Relevant External Links for AFP Genetic Association Database (GAD) AFP Human Genome Epidemiology (HuGE) Navigator AFP Atlas of Genetics and Cytogenetics in Oncology and Haematology: AFP No data available for Genatlas for AFP Gene Alpha-fetoprotein gene[genecards.org]
  • Hepatocellular Carcinoma: Epidemiology, Risk Factors, and Screening. Medscape, from Semin Liver Dis . 2005;25(2):143-154 [On-line information]. Available online at . (2005 January 05). LBA AFP-L3. Wako [On-line package insert].[labtestsonline.it]
  • PMID 14699509 Epidemiology of primary liver cancer. Bosch FX, Ribes J, Borras J. Semin Liver Dis. 1999;19(3):271-85. (REVIEW) PMID 10518307 Alpha-fetoprotein: from a diagnostic biomarker to a key role in female fertility.[atlasgeneticsoncology.org]
  • PubMed Central View Article PubMed Google Scholar Bosch FX, Ribes J, Borras J: Epidemiology of primary liver cancer. Semin Liver Dis. 1999, 19: 271-285. 10.1055/s-2007-1007117.[wjso.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • […] helpful The follow-up management of patients undergoing cancer therapy, especially for testicular and ovarian tumors and for hepatocellular carcinoma Often used in conjunction with human chorionic gonadotropin(2) Clinical Information Discusses physiology, pathophysiology[mayomedicallaboratories.com]

Prevention

  • Attention should therefore be paid to this benign condition to prevent misdiagnoses in those patients with elevated AFP levels. Three specific polymorphisms in the AFP promoter gene have been pointed out as etiologic explanations for HPAFP ( 6 ).[academic.oup.com]

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