Lokalizovaná neurofibromatóza typu 1 v mozaice.
- Resource Type
- Article
- Authors
- Schwarz, M.; Vícha, A.; Kuťková, K.; Krsková, L.; Bendová, Š.; Zarzycka, J.; Hedvičáková, P.; Macek Jr., M.; Vlčková, M.
- Source
- Česká a Slovenská Neurologie a Neurochirurgie. 2022, Vol. 85 Issue 1, p80-82. 3p.
- Subject
- *GENETIC testing
*GENETIC counseling
*GENETIC variation
*NEUROFIBROMATOSIS
*DELETION mutation
*NEUROFIBROMA
*NEUROFIBROMATOSIS 1
- Language
- ISSN
- 1210-7859
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. [ABSTRACT FROM AUTHOR]