Maniglia Maurício Pereira, Ribeiro Maria Estela Bellini, Costa Nauyla Miranda da, Jacomini Marta Lúcia Gabriel, Carvalho Thiago Bittencourt Ottoni de, Molina Fernando Drimel, Piatto Vânia Belintani, Maniglia José Victor
1Department of Otorhinolaryngology and Head-Neck Surgery of the Faculty of Medicine of São José do Rio Preto Medical School (FAMERP), São José do Rio Preto, São Paulo, Brazil.
Pediatr Hematol Oncol. 2013 Oct;30(7):616-22. doi: 10.3109/08880018.2013.806620. Epub 2013 Jun 26.
Juvenile nasopharyngeal angiofibroma (JNA) is a vascular tumor of the nasopharynx that accounts for 0.5% of all cancers of the head and neck. It primarily affects males aged 14-25 years. Of the many genes that mediate the development of JNA, GSTM1 has been most frequently associated with this vascular tumor. The loss of expression of GSTM1 (null genotype) is linked to the development of these tumors. The aim of this cross-sectional case study was to examine the prevalence of the GSTM1-null genotype in Brazilian patients with JNA. DNA was extracted from the leukocytes of blood samples from 10 patients. GSTM1 genotypes were analyzed using a PCR-based assay that was designed to identify the wild-type allele of GSTM1. All 10 patients (100%) were males, with a mean age of 17.8 years. The null genotype for GSTM1 was noted in 4 patients (40%)-1 (10%) at Fisch stage I, 1 (10%) at stage III, and 2 (20%) at stage II. No patient with this genotype had stage IV disease. There was no correlation between Fisch classification and GSTM1 genotype (P = .5695). The correlation between age at diagnosis and GSTM1 genotype was not significant (P = .728). The present findings indicate that there is evidence of an association between the GSTM1-null genotype and JNA in this studied Brazilian population.
青少年鼻咽血管纤维瘤（JNA）是一种鼻咽部的血管肿瘤，占头颈部所有癌症的0.5%。它主要影响14至25岁的男性。在许多介导JNA发生发展的基因中，GSTM1与这种血管肿瘤的关联最为频繁。GSTM1表达缺失（无效基因型）与这些肿瘤的发生发展有关。本横断面病例研究的目的是调查巴西JNA患者中GSTM1无效基因型的患病率。从10例患者的血液样本白细胞中提取DNA。使用基于聚合酶链反应（PCR）的检测方法分析GSTM1基因型，该方法旨在鉴定GSTM1的野生型等位基因。所有10例患者（100%）均为男性，平均年龄17.8岁。4例患者（40%）存在GSTM1无效基因型，其中 Fisch I期1例（10%），III期1例（10%），II期2例（20%）。该基因型患者无IV期疾病。Fisch分类与GSTM1基因型之间无相关性（P = 0.5695）。诊断时年龄与GSTM1基因型之间的相关性不显著（P = 0.728）。目前的研究结果表明，在本研究的巴西人群中，有证据表明GSTM1无效基因型与JNA之间存在关联。
