Frequency of the Loss of Heterozygosity of the Gene in Sporadic Spinal Schwannomas.
作者信息
DE Carvalho Raimundo Miranda, DE Castro Sant' Anna Carla, Pinto Giovanny Rebouças, Paschoal Eric Homero Albuquerque, Tuji Fabricio Mesquita, DO Nascimento Borges Barbara, Soares Paulo Cardoso, Júnior Alberto Gomes Ferreira, Rey Juan Antonio, Chaves Luiz Cláudio Lopes, Burbano Rommel Rodriguez
机构信息
Laboratory of Molecular Biology, Ophir Loyola Hospital, Belém, Brazil.
Laboratory of Molecular Biology, Ophir Loyola Hospital, Belém, Brazil
出版信息
Anticancer Res. 2018 Apr;38(4):2149-2154. doi: 10.21873/anticanres.12455.
BACKGROUND/AIM: Individuals with type 2 Neurofibromatosis are predisposed for the appearance of schwannomas. In the present study we analyzed the loss of heterozygosity and mutations in the NF2 gene in patients with sporadic Schwannoma without Neurofibromatosis type 2.
MATERIALS AND METHODS
We analyzed 39 patients with sporadic spinal schwannoma. We quantified the number of alleles by FISH and sequenced the NF2 gene.
RESULTS
We identified 16/39 patients with point mutations and/or LOHs in the tumor samples analyzed. The LOHs were found in 7/39 patients. Two homozygous mutations were detected in 4/39 tumors, and the presence of the mutation in heterozygosis was revealed in 3/39 patients. In two tumors, we detected the loss of one allele of the NF2 gene, with no mutation.
CONCLUSION
The genetic alterations observed in the NF2 gene indicated that spinal schwannomas are associated with genetic alterations also found in other schwannomas and type 2 Neurofibromatosis, which reinforces the etiological role of this gene.
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