Lokalizovaná neurofibromatóza typu 1 v mozaice

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Autoři: M. Schwarz ¹; A. Vícha ²; K. Kuťková ³; L. Krsková ³; Š. Bendová ¹; J. Zarzycka ¹; P. Hedvičáková ¹; M. Macek Jr. ¹; M. Vlčková ¹
Působiště autorů: Department of Biology and Medical ¹; Department of Pediatric Hematology, and Oncology, Charles University in, Prague, 2nd Faculty of Medicine and, University Hospital Motol, Prague, Czech, Republic ²; Genetics, nd Faculty of Medicine, Charles University in Prague and Motol, University Hospital, Prague, Czech, Republic ²; Department of Pathology and Molecular, Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol, University Hospital, Prague, Czech, Republic ³
Vyšlo v časopise: Cesk Slov Neurol N 2022; 85(1): 80-82
Kategorie: Dopisy redakci
doi: https://doi.org/10.48095/cccsnn202280

Souhrn

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.

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