期刊
ENDOCRINE-RELATED CANCER
卷 29, 期 4, 页码 213-224出版社
BIOSCIENTIFICA LTD
DOI: 10.1530/ERC-21-0359
关键词
biochemical phenotype; methoxytyramine; normetanephrine; sex-related differences; succinate dehydrogenase mutations; tumor size
资金
- Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) [314061271 - TRR 205]
- AES [PI17/01796]
- Fondo Europeo de Desarrollo Regional (FEDER)
- European Union [259735]
- Paradifference foundation
- Intramural Research Program of the NIH, NICHD
Jugulotympanic HNPGLs have distinct features, primarily occurring in women and having a lower proportion of SDHx mutations. Compared to carotid body and vagal HNPGLs, jugulotympanic HNPGLs are less likely to be bilateral, smaller in size, and have a lower metastatic rate. Patients with HNPGLs have higher plasma concentrations of MTY, while plasma normetanephrine does not differ significantly.
Head and neck paragangliomas (HNPGLs) are tumors of parasympathetic origin that occur at variable locations and are often secondary to germline mutations in succinate dehydrogenase (SDH) subunit genes. Occasionally, these tumors produce catecholamines. Here, we assessed whether different locations of HNPGLs relate to the presence of SDHx mutations, catecholamine production and other presentations. In this multicenter study, we collected clinical and biochemical data from 244 patients with HNPGLs and 71 patients without HNPGLs. We clarified that jugulotympanic HNPGLs have distinct features. In particular, 88% of jugulotympanic HNPGLs arose in women, among whom only 24% occurred due to SDHx mutations compared to 55% in men. Jugulotympanic HNPGLs were also rarely bilateral, were of a smaller size and were less often metastatic compared to carotid body and vagal HNPGLs. Furthermore, we showed that plasma concentrations of methoxytyramine (MTY) were higher (P < 0.0001) in patients with HNPGL than without HNPGL, whereas plasma normetanephrine did not differ. Only 3.7% of patients showed strong increases in plasma normetanephrine. Plasma MTY was positively related to tumor size but did not relate to the presence of SDHx mutations or tumor location. Our findings confirm that increases in plasma MTY represent the main catecholamine-related biochemical feature of patients with HNPGLs. We expect that more sensitive analytical methods will make biochemical testing of HNPGLs more practical in the future and enable more than the current 30% of patients to be identified with dopamine-producing HNPGLs. The sex-dependent differences in the development of HNPGLs may have relevance to the diagnosis, management and outcomes of these tumors.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据