Patel Vinod, Singh Manish Kumar, Mishra Anupam
Department of Otorhinolaryngology and Head and Neck Surgery, King George Medical University, Lucknow, India.
Department of Hematology (lab),, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Indian J Otolaryngol Head Neck Surg. 2025 Jan;77(1):284-290. doi: 10.1007/s12070-024-05171-z. Epub 2024 Oct 30.
The chromosomal characterization of nasopharyngeal angiofibroma (NPF) of Indian origin seems important as it is consistently absent in literature. Routine karyotyping (G-banding) and fluorescence in situ hybridization (FISH) analysis was undertaken using CMYC, TP53 CEPX/Y probes in 9 cases of NPF wherein chromosomal characteristics were correlated with clinical parameters. Karyotype profile of venous sample from every case was normal. Following FISH analysis, 5 (55%) cases showed deleted CMYC allele while 4 (44%) showed deleted TP53. In addition, loss of Y centromere was evident in 1 case. Despite definite trends, no significant correlation with clinical parameters and FISH expression/ G-banding karyotyping could be appreciated. The peripheral blood karyotype cannot predict any significant parallel picture in solid tumour. Solid tumour karyotyping and FISH have a definite potential to screen the genetic abnormalities. While high cost of FISH probes and the required expertise may limit its routine clinical use, this technique can be combined with other molecular tools for better results.
The online version contains supplementary material available at 10.1007/s12070-024-05171-z.
印度起源的鼻咽血管纤维瘤（NPF）的染色体特征似乎很重要，因为文献中一直没有相关内容。对9例NPF进行了常规核型分析（G显带）和荧光原位杂交（FISH）分析，使用CMYC、TP53 CEPX/Y探针，其中染色体特征与临床参数相关。每例病例静脉样本的核型图谱均正常。FISH分析后，5例（55%）显示CMYC等位基因缺失，4例（44%）显示TP53缺失。此外，1例明显出现Y着丝粒缺失。尽管有明确趋势，但未发现与临床参数及FISH表达/G显带核型分析有显著相关性。外周血核型无法预测实体瘤中任何明显的平行情况。实体瘤核型分析和FISH有确定的潜力来筛查基因异常。虽然FISH探针成本高且需要专业知识可能会限制其常规临床应用，但该技术可与其他分子工具结合以获得更好结果。
在线版本包含可在10.1007/s12070-024-05171-z获取的补充材料。
