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抗利尿激素分泌异常综合征作为嗅神经母细胞瘤的一种罕见表现:基于病例的概述

SIADH as an uncommon presentation of olfactory neuroblastoma: a case-based overview.

作者信息

Papart Solene, Daly Adrian F, Bianchi Elettra, Jadoul Alexandre, Reuter Gilles, Bouchain Olivier, Pétrossians Patrick, Beckers Albert

机构信息

Department of Opthalmology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.

Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.

出版信息

Endocr Oncol. 2025 Jul 7;5(1):e250021. doi: 10.1530/EO-25-0021. eCollection 2025 Jan.

Abstract

BACKGROUND

Olfactory neuroblastoma (ONB) is a rare malignant neuroectodermal tumour that usually arises in the nasal cavity, typically presenting with unilateral nasal obstruction and epistaxis. In rare instances, ONB can manifest as a paraneoplastic syndrome of inappropriate antidiuretic hormone (SIADH) secretion, leading to hyponatraemia.

CASE PRESENTATION

We describe a 42-year-old woman with a 4-year history of cyclical, symptomatic hyponatraemia characterised by intermittent episodes of dizziness, severe headaches and marked fatigue, initially without overt nasal or otolaryngological symptoms. Investigations confirmed SIADH, yet repeated imaging (including thoracic CT and FDG PET-CT) failed to identify a source. Eventually, a Ga-DOTANOC PET-CT revealed an isolated lesion in the left ethmoid region. Surgical resection via an endoscopic approach confirmed the diagnosis of a Hyams grade 1 ONB. Following complete tumour removal, the patient's hyponatraemia resolved.

LITERATURE REVIEW

ONB accounts for <3% of nasal tumours and can present with non-specific symptoms, delaying diagnosis. Most patients have a typical combination of nasal obstruction and epistaxis, but paraneoplastic SIADH is reported in about 2% of cases. Complete surgical excision is the cornerstone of therapy, often accompanied by radiotherapy or chemotherapy for higher-grade lesions. Recent advances suggest that somatostatin receptor imaging and targeted radionuclide therapy might benefit select patients, particularly those with unresectable or recurrent disease.

CONCLUSION

This case highlights the importance of considering ONB in patients with unexplained SIADH, especially when initial investigations are inconclusive. It also underscores the utility of Ga-DOTANOC PET-CT in detecting occult neuroendocrine tumours, and reinforces the value of prompt surgical intervention for definitive treatment.

摘要

背景

嗅神经母细胞瘤(ONB)是一种罕见的恶性神经外胚层肿瘤,通常发生于鼻腔,典型表现为单侧鼻塞和鼻出血。在罕见情况下,ONB可表现为抗利尿激素分泌异常综合征(SIADH)的副肿瘤综合征,导致低钠血症。

病例介绍

我们描述了一名42岁女性,有4年周期性、有症状性低钠血症病史,其特征为间歇性头晕、严重头痛和明显疲劳,最初无明显鼻部或耳鼻喉科症状。检查确诊为SIADH,但反复影像学检查(包括胸部CT和FDG PET-CT)未能发现病因。最终,Ga-DOTANOC PET-CT显示左侧筛窦区有一个孤立病灶。通过内镜手术切除确诊为Hyams 1级ONB。肿瘤完全切除后,患者的低钠血症得以缓解。

文献综述

ONB占鼻腔肿瘤的比例<3%,可表现为非特异性症状,从而延迟诊断。大多数患者有鼻塞和鼻出血的典型组合,但约2%的病例报告有副肿瘤性SIADH。完整的手术切除是治疗的基石,对于高级别病变通常还需联合放疗或化疗。最近的进展表明,生长抑素受体显像和靶向放射性核素治疗可能使部分患者受益,尤其是那些无法切除或复发的患者。

结论

本病例强调了在不明原因的SIADH患者中考虑ONB的重要性,特别是在初始检查无定论时。它还强调了Ga-DOTANOC PET-CT在检测隐匿性神经内分泌肿瘤方面的效用,并强化了及时进行手术干预以进行确定性治疗的价值。

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