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Surgical approaches and results of treatment for hereditary paragangliomas.
Best Practice & Research Clinical Endocrinology & Metabolism ( IF 7.4 ) Pub Date : 2019-07-27 , DOI: 10.1016/j.beem.2019.101298
Maurizio Iacobone 1 , Amanda Belluzzi 1 , Francesca Torresan 1
Affiliation  

Paragangliomas (PGL) are rare neuroendocrine tumours; parasympathetic PGL are predominantly non-secreting and located at the skull base and neck, while sympathetic PGL are typically catecholamine-secreting and located at abdomino-pelvic level. Approximately 40% of PGL may be caused by germline mutations; hereditary variants should be suspected especially in case of positive family history, early onset, multifocal, or recurrent PGL. Significant genotype-phenotype correlation has been recognized, including syndromic presentation, location, multifocality and risk of malignancy. Surgical resection remains the only curative strategy, but the outcomes may be unsatisfactory because of surgical morbidity and recurrence rate. However, due to the rarity of the disease, most data derive from case-report or limited series. This paper was aimed to review the available literature on the epidemiology, diagnosis, clinical features, treatment of PGL in order to discuss the surgical approach and the results of treatment in hereditary PGL.

中文翻译:

遗传性神经节旁瘤的手术方法和治疗结果。

副神经节瘤(PGL)是罕见的神经内分泌肿瘤。副交感神经PGL主要是不分泌的,位于颅底和颈部,而交感神经PGL通常是儿茶酚胺的分泌,位于腹部-骨盆水平。大约40%的PGL可能是种系突变引起的;尤其是在家族史阳性,发病早,多灶或复发的PGL的情况下,应怀疑遗传变异。显着的基因型-表型相关性已得到认可,包括症状表现,部位,多灶性和恶性风险。手术切除仍然是唯一的治疗策略,但由于手术的发病率和复发率,其结果可能并不令人满意。但是,由于这种疾病的稀有性,大多数数据来自病例报告或有限的序列。
更新日期:2019-07-27
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