Clinical cases of neurofibromatosis (plexiform nodes)

Abstract

The case histories of two patients treated at the Republican Children's Clinical Hospital of the Ministry of Health of the Udmurt Republic were retrospectively analyzed. A seventeen-year-old patient was found to have a heterozygous mutation (deletion 1) in the exon 24 of the NF1 gene, which led to multiple focal changes in the brain, disorders in the cardiovascular, endocrine, reproductive and skeletal systems, and cognitive dysfunctions. In the second case, DNA sequencing revealed a heterozygous mutation (single nucleotide substitution) in the 9th exon of the NF1 gene NM_000267: exon9: c.C910T: p.R304X in a seven-year-old girl. This mutation was reflected in impressive changes in the orbit and deviations in the skeletal system.

Type 1 neurofibromatosis is certainly a complex disease that causes tumors in humans, as well as lesions of the skin, nervous and skeletal systems. The cause of its development is a mutation of the oncosuppressor protein neurofibromin. Treatment of the disease is aimed at reducing the progressive growth of neurofibromas, but it should be noted that a targeted therapy has been developed only for plexiform tumors.

Keywords

Neurofibromatosis / neurofibromas / plexiform nodes / NF1 gene / mutations / sequencing

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Malkova A.A., Molchanova E.G., Fattakhova A.R., Zaripova A.L., Pchelovodova Y.N.