耳鼻咽喉科某些罕见肿瘤(其二)

脊索瘤2例曾××,女,26岁,住院号126508。因渐进性鼻塞3年,鼻塞加剧伴张口呼吸,入睡后鼾声,头痛,耳鸣,听力障碍一年于1966年10月29日入院。入院检查见张口呼吸,明显关闭性鼻音,右下颔角可触及2×1.5厘米之活动淋巴结,左侧周围性面瘫。前鼻镜下通过后鼻孔隐约可见鼻咽顶后明显隆起肿物,表面光滑。软腭下塌,鼻咽腔几乎全为该肿物所占据。双侧鼓膜有液面。入院诊断为(1)鼻咽纤维瘤,(2)周围性面瘫(左),(3)渗出性中耳炎(双),入院后行颅底及正侧位颅骨 x 线检查见左侧中颅窝底,岩尖,蝶鞍,斜坡及右颈内     

[I]-TYR3-octreotide: clinical dosimetry and use for internal radiotherapy of metastatic paraganglioma and carcinoid tumors

Dosimetry and therapeutic application of [¹³¹I]-Tyr3-octreotide were evaluated in three patients with metastatic paraganglioma and carcinoid tumor. The in vitro stability of [¹³¹I]-Tyr3-octreotide was verified. Tumor uptake and residence time were between 0.02 and 0.1% and 0.5 to 9.8 h, respectively. The calculated tumor radiation doses were between 0.105 and 0.696 mGy·MBq⁻¹. No intolerance or adverse effects were observed after the therapeutic doses (3.3–6.6 GBq). A partial tumor response was obtained in one patient and no response occurred in two patients.     

颈静脉球瘤的MR诊断

目的探讨MR检查在颈静脉球瘤诊断中的应用价值。方法对15例病变进行回顾性分析,重点分析其部位、信号及其侵袭性表现等情况。结果15例患者中,右侧病变8个(8/15),左侧7个(7/15);肿瘤形态为类圆形或不规则形,12例较大病变不同程度侵犯颈静脉孔区、乳突、岩骨、岩尖、斜坡等处骨质;肿瘤信号欠均匀,12个(12/15)肿块在MR平扫出现“盐和胡椒征”,以“胡椒”表现最为显著;13个肿块(13/13)均有明显强化,其中10个肿块出现“盐和胡椒征”。9例行MRA检查,颈内动脉和颈内静脉不同程度移位和包绕。结论根据肿瘤的部位、“盐和胡椒征”等MR表现,可在手术前正确诊断颈静脉球瘤。     

代谢酶在嗜铬细胞瘤/副神经节瘤发病机制中的研究进展

嗜铬细胞瘤/副神经节瘤(PPGL)为临床上少见的儿茶酚胺内分泌肿瘤,大多数为良性,有10%~25%为恶性并转移。三羧酸循环为能量供应的途径之一,当循环中任何酶突变会引起代谢改变,促进细胞增殖与存活,与肿瘤的发生发展、侵袭和转移相关。代谢酶相关突变参与PPGL发病机制,可成为PPGL靶向治疗的方向。     

The value of magnetic resonance imaging in the differential diagnosis of parapharyngeal space tumours

Between 1987 and 1993 14 patients with a parapharyngeal space tumour were imaged by magnetic resonance imaging (MRI). The vagal body tumours, presenting in the poststyloid compartment, all showed flow voids with anterior and medial displacement of the internal carotid artery. None of the salivary gland tumours, all presenting in the prestyloid compartment with posterior displacement of the internal carotid artery, showed flow voids. MRI is superior compared with other modalities in evaluating the differential diagnosis, especially regarding vascular vs non-vascular tumours. It should encompass T₁ SE images to assess the presence or absence of flow voids. In vascular tumours angiography must be used to assess feeding vessels, multiplicity, and sides involved. T₁ GE images are useful as they allow superior identification of the internal carotid artery and its relation with the tumour accordingly. In addition to T₁ SE images, T₂ SE images may help in the evaluation of the differential diagnosis. In all non-vascular tumours aspiration cytology is required to differentiate between benign and malignant disease.     

Management of Facial Nerve in Surgical Treatment of Previously Untreated Fisch Class C Tympanojugular Paragangliomas: Long-Term Results

The aim of this study was to evaluate the long-term facial nerve outcome according to management of the facial nerve in patients undergoing surgery for Fisch class C tympanojugular paragangliomas. The study population consisted of 122 patients. The infratemporal type A approach was the most common surgical procedure. The facial nerve was left in place in 2 (1.6%) of the 122 patients, anteriorly rerouted in 97 (79.5%), anteriorly rerouted with segmental resection of the epineurium in 7 (5.7%), and sacrificed and reconstructed in 15 (12.3%). One patient underwent cross-face nerve grafting. At last follow-up, House-Brackmann grade I to II was achieved in 51.5% of patients who underwent anterior rerouting and in 28.5% of those who underwent anterior rerouting with resection of the epineurium. A House-Brackmann grade III was achieved in 73.3% of patients who underwent cable nerve graft interposition. The two patients in whom the facial nerve was left in place experienced grade I and grade III, respectively. The patient who underwent cross-face nerve grafting had grade III. Gross total resection was achieved in 105 cases (86%). Management of the facial nerve in tympanojugular paraganglioma surgery can be expected to ensure satisfactory facial function long-term outcome.     

The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma

Abstract

Aim of the study: It was found that the mutations in the SDHD gene, encoding one of subunits of the succinate dehydrogenase complex, lead to the development of head and neck paraganglioma (HNPGL). We analyzed this gene in 91 patients with HNPGL from Russia.

Materials and methods: DNA was isolated from the whole blood. A screening for mutations was performed by Sanger sequencing.

Results: We revealed three missense mutations that have been described previously: p.Pro81Leu, p.His102Arg, p.Tyr114Cys. Moreover, we identified a novel potentially pathogenic variant (p.Trp105*).

Conclusions: We found that mutations in the SDHD gene were less common in Russian patients compared with the majority of European populations. It was shown that the p.His102Arg mutation is a major mutation in Russia. We confirmed the previous suggestion that a bilateral localization of the tumor and the carotid type represent a marker of the genetically determined form of HNPGL.     

Fine-needle aspiration of six carotid body paragangliomas

We report six carotid body paragangliomas diagnosed by fine-needle aspiration (FNA) in five patients. A total of eight aspirations were performed. The cytologic findings are characteristic: hemorrhagic background, hypo- to hypercellular smears (depending on the skill of the aspirator) with cells having delicate, illdefined, vacuolated cytoplasm, pleomorphic nuclei with distinct nucleoli, rare intranuclear cytoplasmic inclusions, and prominent rosette formation. No complications arose in any of the eight aspirations. FNA is a safe, accurate means of diagnosing carotid body paragangliomas. It can provide essential information for treatment planning and patient management.