PhD Scientific Days 2019

Oral presentations: Oncology

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

Előadó neve

Dr. Pinti, Éva

Előadó munkahelye

II. Department of Pediatrics, Semmelweis University

Előadó telefonszáma

0036702503660

Előadó e-mail címe

pinti.eva@med.semmelweis-univ.hu

Az előadás címe

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

Szerző(k) neve és munkahelye

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

Bemutatás módja

Poszter

Szekció

Oral presentations: Oncology

Language of the presentation

Hungarian

Témacsoport

other

Összefoglaló szövege

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.

Kind

Szabad

Status

elfogadva

Accepted presentation method

szóbeli

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

2867

Authors (legacy)

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

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