Article (Scientific journals)
Contribution of the Clinical and Histopathological Features in the Positive Diagnosis of the Juvenile Polyposis Syndrome
Poaty, Henriette; Batamba Bouya, L.; Gassaye, D et al.
2018In American Journal of Genetics & Genomics, 1 (1)
Peer reviewed
 

Files


Full Text
Lumaka_Zola_Aimé_Publication_Juvenile polyposis syndrome - 2018-AJGG-ID11.pdf
Publisher postprint (762.24 kB)
Download

All documents in ORBi are protected by a user license.

Send to



Details



Keywords :
Juvenile polyposis syndrome; Clinic; Histopathology; Genetic Disease; Hereditary Cancer
Abstract :
[en] Juvenile Polyposis Syndrome (JPS) is a rare genetic disease characterized by the presence of the juvenile hamartomatous polyps. The condition is caused by germline mutation in the BMPR1A or the SMAD4 genes and it is inherited in an autosomal dominant manner. It predisposes affected persons to a high risk of malignant tumors, mainly colorectal and stomach cancers. The confi rmation of the diagnosis is based on genetic analysis. But at fi rst, family history, pedigree, clinical criteria and histopathological analysis guide to an inherited disease. We present here a Congolese patient with suggestive clinical and histopathological features which lead to the JPS.
Disciplines :
Laboratory medicine & medical technology
Oncology
Author, co-author :
Poaty, Henriette
Batamba Bouya, L.
Gassaye, D
Mavoungou Biatsi, K
Lumaka Zola, Aimé  ;  Université de Liège - ULiège > Cancer-Human Genetics
Peko, JF
Language :
English
Title :
Contribution of the Clinical and Histopathological Features in the Positive Diagnosis of the Juvenile Polyposis Syndrome
Publication date :
14 February 2018
Journal title :
American Journal of Genetics & Genomics
Volume :
1
Issue :
1
Peer reviewed :
Peer reviewed
Available on ORBi :
since 22 January 2020

Statistics


Number of views
40 (2 by ULiège)
Number of downloads
31 (3 by ULiège)

Bibliography


Similar publications



Contact ORBi