PhD Scientific Days 2019

Budapest, April 25–26, 2019

Beyond the current NF1 diagnostic criteria: NF1-like syndromes and their identification

Pinti, Éva

Éva Pinti1, Anna Lengyel1, Krisztina Németh1, Krisztina Staub1, György Fekete1, Irén Haltrich1
1 Division of Genetics, II. Department of Pediatrics, Semmelweis University, Budapest

Language of the presentation

Hungarian

Text of the abstract

Introduction: Café au lait spots or other symptoms of neurofibromatosis type 1 (NF1) are not so scarcely seen in everyday clinical practice. It is the most common manifestation of NF1, but is not specific or essential for NF1 diagnosis. There are many other characteristic features and lots of further genetic conditions - called NF1-like syndromes - which have similar appearance.
Aims: We would like to assemble an efficient examination-algorithm in the case of NF1-like conditions.
Method: By reviewing the recent scientific literature and examining our patients’ data we tested the applicability (sensitivity and specificity) of NF1’s diagnostic criteria, summarized the NF1-like syndromes and established a refined, supplemented NF1-like syndrome diagnostic screening strategy.
Results: Due to the recent scientific information and available testing methods in Hungary we could identify patients with atypical forms of NF1, and the more frequent and caracteristic NF1-like syndromes among our clinic’s patient population.
Conclusion: The recognition of NF1-like syndromes is important because of their increased risk for malignancies and heritability.

Data of the presenter

Doctoral School: Clinical Medicine
Program: Clinical application of basic science results
Supervisor: Irén Haltrich
E-mail address: pinti.eva@med.semmelweis-univ.hu