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I型家族性副神经节瘤综合征中的下颌骨溶骨性病变:一个临床难题。

Mandibular Lytic Lesion in Familial Paraganglioma Syndrome Type I: A Clinical Conundrum.

作者信息

Sinha Parul, Yuen Sonia N, Chernock Rebecca D, Haughey Bruce H

机构信息

1 Otolaryngology-Head and Neck Surgery, Washington University School of Medicine, St. Louis, Missouri, USA.

2 Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.

出版信息

Ann Otol Rhinol Laryngol. 2017 Aug;126(8):615-618. doi: 10.1177/0003489417717502. Epub 2017 Jul 1.

Abstract

OBJECTIVE

The entity of primary mandibular paraganglioma (PGL) is not well accepted within the head and neck. Mandibular PGLs hitherto reported in literature are malignant metastatic lesions, mostly from a pheochromocytoma.

METHODS

We report a case of mandibular lytic lesion in a young female with multifocal PGLs but no family history of PGLs. We also performed a literature search to identify published cases of mandibular PGL.

RESULTS

Lack of established criteria for malignancy in a PGL made diagnosis and treatment challenging. Testing was negative for a pheochromocytoma and positive for mutation of succinate dehydrogenase gene encoding subunit D (SDHD), thus rendering a diagnosis of familial PGL syndrome type I. Due to the absence of prior published reports of nonmalignant, primary mandibular PGL, patient was treated with surgery and postoperative radiotherapy. Our literature search revealed 4 published cases of mandibular PGL, all of which had an osteoblastic appearance and were malignant.

CONCLUSIONS

Isolated mandibular PGL does not always indicate a malignant metastatic lesion. Genetic testing is recommended in patients with early onset of PGL and/or multifocality even without a positive family history. Surgical resection alone with surveillance can be offered for such isolated lesions in the presence of familial PGL syndrome type I.

摘要

目的

原发性下颌副神经节瘤(PGL)在头颈部尚未被广泛认可。文献中迄今报道的下颌PGL均为恶性转移性病变,大多源自嗜铬细胞瘤。

方法

我们报告了一例年轻女性下颌溶骨性病变病例,该患者患有多灶性PGL,但无PGL家族史。我们还进行了文献检索,以确定已发表的下颌PGL病例。

结果

PGL缺乏既定的恶性标准,这使得诊断和治疗具有挑战性。嗜铬细胞瘤检测呈阴性,编码亚基D的琥珀酸脱氢酶基因突变检测呈阳性,因此诊断为I型家族性PGL综合征。由于此前没有非恶性原发性下颌PGL的发表报告,该患者接受了手术及术后放疗。我们的文献检索发现了4例已发表的下颌PGL病例,所有病例均呈成骨表现且为恶性。

结论

孤立性下颌PGL并不总是提示恶性转移性病变。对于PGL发病早和/或有多灶性表现的患者,即使没有阳性家族史,也建议进行基因检测。对于I型家族性PGL综合征患者的此类孤立性病变,可仅行手术切除并进行监测。

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