Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas

被引：7
|
作者：
De Carvalho, Raimundo Miranda [1 ]
Sant'anna, Carla De Castro [1 ,2 ]
Pinto, Giovanny Reboucas [3 ]
Albuquerque Paschoal, Eric Homero [1 ]
Tuji, Fabricio Mesquita [1 ]
Borges, Barbara Do Nascimento [4 ]
Soares, Paulo Cardoso [1 ]
Ferreira Junior, Alberto Gomes [1 ]
Rey, Juan Antonio [5 ]
Lopes Chaves, Luiz Claudio [1 ]
Burbano, Rommel Rodriguez [1 ]
机构：
[1] Ophir Loyola Hosp, Mol Biol Lab, Ave Governador Magalhaes Barata 992, BR-66063240 Belem, Para, Brazil
[2] Joao de Barros Barreto Univ Hosp, Belem, Para, Brazil
[3] Univ Fed Piaui, Genet & Mol Biol Lab, Parnaiba, Brazil
[4] Fed Univ Para, Mol Biol Lab, Belem, Para, Brazil
[5] Hosp Univ La Paz, Res Unit, Madrid, Spain
来源：
ANTICANCER RESEARCH | 2018年 / 38卷 / 04期
关键词：
Mutation; LOH; spinal schwannoma; FISH; MUTATION; PROTEIN; EZRIN; METHYLATION; RADIXIN; MOESIN; MEMBER;
D O I：
10.21873/anticanres.12455
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
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.
引用
收藏
页码：2149 / 2154
页数：6
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