Elston M S, Benn D, Robinson B G, Conaglen J V
Department of Endocrinology, Waikato Hospital, Hamilton, New Zealand.
Intern Med J. 2006 Feb;36(2):129-31. doi: 10.1111/j.1445-5994.2006.01023.x.
Paragangliomas (PGLs) are rare tumours arising from parasympathetic-associated paraganglia (particularly of the head and neck) or from sympathetic-associated paraganglia such as in the adrenal medulla when they are termed phaeochromocytomas and at extra-adrenal sites in the abdomen and thorax. Recent reports have found frequent germline mutations of VHL, RET, SDHB or SDHD not only in familial cases but also in apparently sporadic cases of phaeochromocytoma. These germline mutations are particularly likely to be found if multifocal disease is present or if the phaeochromocytoma or PGL occurs at a young age. We report a germline splice site mutation in SDHB in a patient presenting with an incidental, apparently sporadic, abdominal sympathetic PGL at 68 years of age.
副神经节瘤（PGLs）是一种罕见的肿瘤，起源于副交感神经相关的副神经节（特别是头颈部），或起源于交感神经相关的副神经节，如肾上腺髓质（此时称为嗜铬细胞瘤）以及腹部和胸部的肾上腺外部位。最近的报告发现，不仅在家族性病例中，而且在明显散发的嗜铬细胞瘤病例中，VHL、RET、SDHB或SDHD的种系突变也很常见。如果存在多灶性疾病，或者嗜铬细胞瘤或PGL在年轻时发生，那么这些种系突变尤其容易被发现。我们报告了一例68岁患者，其患有偶然发现的、明显散发的腹部交感神经PGL，该患者存在SDHB的种系剪接位点突变。
