Localized mosaic neurofibromatosis type 1

Result code in 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>
Alternative codes found
RIV/00216208:11130/22:10443359
Result on the web
<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>

Result language
angličtina
Original language name
Localized mosaic neurofibromatosis type 1
Original language description
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>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.
Czech name
—
Czech description
—

Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30101 - Human genetics

Project
<a href="/en/project/LM2018132" target="_blank" >LM2018132: The National Center for Medical Genomic</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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