嗜铬细胞瘤的基因筛查：是否应纳入SDHC基因分析？
Genetic screening for pheochromocytoma: should SDHC gene analysis be included?
作者信息
Mannelli M, Ercolino T, Giachè V, Simi L, Cirami C, Parenti G
机构信息
Endocrinology, Department of Clinical Physiopathology, University of Florence, Florence, Italy.
出版信息
J Med Genet. 2007 Sep;44(9):586-7. doi: 10.1136/jmg.2007.051045. Epub 2007 Jun 8.
Abstract
PGL3 syndrome is caused by mutations in the SDHC gene. At present, only a few families affected by SDHC mutations have been reported in the literature and in each of them the clinical presentation was characterised by paragangliomas located only in the head and neck regions. No evidence of thoracic or abdominal catecholamine-secreting chromaffin tumours has been reported to date. We report the case of a 15-year-old girl with hypertension and a norepinephrine-secreting abdominal paraganglioma who was found to harbour a novel nonsense SDHC mutation, demonstrating that the clinical presentation of PGL3 syndrome can be more diverse than expected.
摘要
PGL3综合征由SDHC基因突变引起。目前，文献中仅报道了少数受SDHC突变影响的家族，且每个家族的临床表现均以仅位于头颈部的副神经节瘤为特征。迄今为止，尚无胸腹部分泌儿茶酚胺的嗜铬细胞瘤的报道。我们报告了一例15岁患有高血压且分泌去甲肾上腺素的腹部副神经节瘤的女孩，该女孩被发现携带一种新的SDHC无义突变，这表明PGL3综合征的临床表现可能比预期的更多样化。
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