Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F24%3A10499636" target="_blank" >RIV/00064203:_____/24:10499636 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/24:10499636

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=x5bHpOX-Ga" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=x5bHpOX-Ga</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis

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: The 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 in the DNA from blood leukocytes or buccal smear. STUDY LIMITATIONS: The healthy skin around neurofibromas was not analyzed due to limited available material. CONCLUSION: Germline and somatic genetic testing in localized forms of neurofibromatosis are advisable since this 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

Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis

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: The 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 in the DNA from blood leukocytes or buccal smear. STUDY LIMITATIONS: The healthy skin around neurofibromas was not analyzed due to limited available material. CONCLUSION: Germline and somatic genetic testing in localized forms of neurofibromatosis are advisable since this 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_SC - Článek v periodiku v databázi SCOPUS

CEP obor

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OECD FORD obor

30101 - Human genetics

Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2024

Kód důvěrnosti údajů

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

Název periodika

Acta Dermatovenerologica Croatica

ISSN

1330-027X

e-ISSN

1847-6538

Svazek periodika

32

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

HR - Chorvatská republika

Počet stran výsledku

5

Strana od-do

205-209

Kód UT WoS článku

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EID výsledku v databázi Scopus

2-s2.0-105011417369