Localized mosaic neurofibromatosis type 1

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F22%3A10443359" target="_blank" >RIV/00064203:_____/22:10443359 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/22:10443359

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=mZEywWhN5D" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=mZEywWhN5D</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.48095/cccsnn202280" target="_blank" >10.48095/cccsnn202280</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Localized mosaic neurofibromatosis type 1

Popis výsledku v původním jazyce

Background: Neurofibromatosis type 1 is one of the more common rare disorders, and its atypical/segmental or mosaic forms are underdiagnosed. Thus far, only a few dozen cases of localized mosaic neurofibromatosis have undergone combined germline and somatic genetic testing for the NF1 gene. Methods: A 65-year-old female patient was referred to our center for multiple neurofibromas on her right shoulder with a clinical diagnosis of localized mosaic neurofibromatosis. One of the neurofibromas was surgically removed. Massively parallel sequencing and multiplex ligation-dependent probe amplification were utilized to identify the germline and somatic variants in the NF1 gene. Results: Heterozygous pathogenic NF1 gene variant c.7549C&gt;T and multiple heterozygous intragenic NF1 gene deletions were detected in the DNA taken from the shoulder neurofibroma but not DNA from blood leukocytes or buccal smear. Conclusion: Germline and somatic genetic testing in localized forms of neurofibromatosis are advisable since it facilitates proper genetic counseling regarding risks to offspring who could inherit a germline pathogenic variant. Another important point to consider is cancer surveillance, which is often underutilized in mosaic forms of neurofibromatosis.

Název v anglickém jazyce

Localized mosaic neurofibromatosis type 1

Popis výsledku anglicky

Background: Neurofibromatosis type 1 is one of the more common rare disorders, and its atypical/segmental or mosaic forms are underdiagnosed. Thus far, only a few dozen cases of localized mosaic neurofibromatosis have undergone combined germline and somatic genetic testing for the NF1 gene. Methods: A 65-year-old female patient was referred to our center for multiple neurofibromas on her right shoulder with a clinical diagnosis of localized mosaic neurofibromatosis. One of the neurofibromas was surgically removed. Massively parallel sequencing and multiplex ligation-dependent probe amplification were utilized to identify the germline and somatic variants in the NF1 gene. Results: Heterozygous pathogenic NF1 gene variant c.7549C&gt;T and multiple heterozygous intragenic NF1 gene deletions were detected in the DNA taken from the shoulder neurofibroma but not DNA from blood leukocytes or buccal smear. Conclusion: Germline and somatic genetic testing in localized forms of neurofibromatosis are advisable since it facilitates proper genetic counseling regarding risks to offspring who could inherit a germline pathogenic variant. Another important point to consider is cancer surveillance, which is often underutilized in mosaic forms of neurofibromatosis.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

<a href="/cs/project/LM2018132" target="_blank" >LM2018132: Národní centrum lékařské genomiky</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Česká a slovenská neurologie a neurochirurgie

ISSN

1210-7859

e-ISSN

1802-4041

Svazek periodika

85

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

3

Strana od-do

80-82

Kód UT WoS článku

000784190300001

EID výsledku v databázi Scopus

2-s2.0-85129804589