Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene.

doi:10.3390/ijms241512154

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Article

Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene.

International journal of molecular sciences - 29 Jul 2023

Veres Klára, Bene Judit, Hadzsiev Kinga, Garami Miklós, Pálla Sára, Happle Rudolf, Medvecz Márta, Szalai Zsuzsanna Zsófia

Abstract excerpt

Plexiform neurofibromas occurring in approximately 20-50% of all neurofibromatosis type-1 (NF1) cases are histologically benign tumors, but they can be fatal due to compression of vital structures or transformation to malignant sarcomas or malignant peripheral nerve sheath tumors. All sizeable plexiform neurofibromas are thought to result from an early second mutation giving rise to a loss of heterozygosity of...

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PMID: 37569527
DOI: 10.3390/ijms241512154
PMCID: PMC10418935

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