Genetic Screening in Pheochromocytoma/Paraganglioma
Genetic Screening in Pheochromocytoma/Paraganglioma
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嗜铬细胞瘤/副神经节瘤的基因筛查
DOI：
10.1007/s12253-016-0117-y
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发表时间：
2016
影响因子：
2.8
通讯作者：
Liu Longfei
中科院分区：
文献类型：
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作者：
Liu Peihua;Zu Xiongbing;Liu Longfei
尊敬的编辑， 我们饶有兴趣地阅读了《BNovel SDHB 和 TMEM127 Mutations in Patients with Pheochromocytoma/Parangglioma Syndrome^》一文 [1]。本文采用作者的第一代测序技术——桑格链终止法，对匈牙利明显散发性PHEO/PGL患者进行了SDHB、SDHC、SDHD、SDHAF2、MAX和TMEM127基因筛查。结合4个RET突变和4个VHL突变，得出匈牙利患者易感基因携带率为21.1%的结论。不过，尽管与之前的相似，但我们建议必须慎重考虑[2]。首先，并不是所有的易感基因都包含在他们的筛选策略中。最新研究的基因多达21个，但排除了NF1、SDHA、HIF2A、KIF1Bβ、EGLN1、EGLN2、H-RAS、KRAS、IDH1、FH、BAP1、MDH2和ATRX基因[3]。因此，本文中提到的无遗传原因的12名恶性/复发患者和3名双侧/多部位患者的基因可能发生突变。其次，由于研究对象来自单一中心且数量有限，无法代表整个匈牙利人群PHEO/PGLs的普遍突变情况。此外，对于文中指出的SDHB基因型-表型关联的新发现，其他作者之前也对SDHB突变患者的临床表现进行了总结[4]。
Dear Editor, We have read the article BNovel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome^ with great interest [1]. In this article genes screening of SDHB, SDHC, SDHD, SDHAF2, MAX and TMEM127 was performed in Hungarian patients with apparently sporadic PHEO/PGLs using the first generation sequencing technology-Sanger chain termination method by the authors. With the combination of 4 RET mutations and 4 VHL mutations, a conclusion that the carrier rate of susceptibility genes in Hungarian patients is 21.1% was made.However, we suggest that it must be deliberated carefully despite its similarity to previous ones [2]. First of all, not all the susceptibility genes were included in their screening strategy. There are as many as 21 genes from the latest research but genes NF1, SDHA, HIF2A, KIF1Bβ, EGLN1, EGLN2, H-RAS, KRAS, IDH1, FH, BAP1, MDH2 and ATRX were excluded [3]. Hence, genes of 12 malignant/recurrent patients and 3 bilateral/multiple-location patients mentioned as no genetic cause ones in the article may be mutated within above. Secondly, because the research subjects were from single center as well as limited in quantity, it’s unable to represent the general mutation of PHEO/PGLs in the whole Hungarian population. In addition, for the new discoveries of SDHB genotype-phenotype associations pointed out in the article, other authors have summarized the clinical presentations of SDHB-mutated patients before [4].
影响因子：
2.8
作者：
A. Patócs;N. Lendvai;H. Butz;I. Likó;Z. Sápi;N. Szűcs;G. Tóth;V. Grolmusz;P. Igaz;M. Tóth;K. Rácz
通讯作者：
A. Patócs;N. Lendvai;H. Butz;I. Likó;Z. Sápi;N. Szűcs;G. Tóth;V. Grolmusz;P. Igaz;M. Tóth;K. Rácz
DOI：
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发表时间：
2012-11
期刊：
Advances in clinical and experimental medicine : official organ Wroclaw Medical University
影响因子：
--
作者：
K. Kolačkov;K. Tupikowski;G. Bednarek-Tupikowska
通讯作者：
K. Kolačkov;K. Tupikowski;G. Bednarek-Tupikowska