区分颅骨转移与副神经节瘤的陷阱:“假性血管瘤”骨转移1例报告。

IF 1.1 4区 医学 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
Seminars in Musculoskeletal Radiology Pub Date : 2025-08-01 Epub Date: 2025-07-16 DOI:10.1055/s-0045-1809073
Victoire Roblot, Annelise Dunas, Anne Laure Bernat, Annouk Bisdorff, Elisa Deflorenne, Valérie Bousson
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引用次数: 0

摘要

22岁女性,持续性头痛,被诊断为右顶骨溶解性病变,呈日裂型,怀疑为骨内血管瘤或朗格汉斯细胞组织细胞增多症。5年后,颅骨破坏逐渐增加,腹膜后和腰椎病变确诊,颅骨活检诊断为腹膜后副神经节瘤伴骨转移。基因检测发现了sdhb突变。这个病例强调了副神经节瘤转移的诊断挑战,从而延迟了适当的管理。·-副神经节瘤的颅骨转移可表现为类似血管瘤的假性血管瘤外观。·- SDHB突变的存在与更具侵袭性的副神经节瘤、更高的转移率和疾病特异性发病率相关。·终身监测副神经节瘤是必要的,因为有晚期转移的风险,尤其是骨转移。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pitfalls of Distinguishing Skull Metastases from Paragangliomas: A Case Report of a "Pseudo-angioma" Bone Metastasis.

A 22-year-old woman with persistent headaches was diagnosed with a right parietal bone lytic lesion with a sunburst pattern, suspected to be either an intraosseous hemangioma or a Langerhans cell histiocytosis. Five years later, progressively increased skull bone destruction, identification of retroperitoneal and lumbar vertebra lesions, and a biopsy of the skull led to the diagnosis of a retroperitoneal paraganglioma with bone metastases. Genetic testing identified an SDHBmutation. This case underscores the diagnostic challenge of metastases of paraganglioma mimicking hemangiomas and thus delaying appropriate management. · - Skull metastases from paragangliomas can present with a pseudoangiomatous appearance that mimics a hemangioma.. · - The presence of an SDHB mutation is associated with more aggressive forms of paraganglioma with higher rates of metastasis and disease-specific morbidity.. · - Lifelong monitoring for paraganglioma is essential due to the risk of late metastasis, especially bone metastasis..

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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
112
审稿时长
>12 weeks
期刊介绍: Seminars in Musculoskeletal Radiology is a review journal that is devoted to musculoskeletal and associated imaging techniques. The journal''s topical issues encompass a broad spectrum of radiological imaging including body MRI imaging, cross sectional radiology, ultrasound and biomechanics. The journal also covers advanced imaging techniques of metabolic bone disease and other areas like the foot and ankle, wrist, spine and other extremities. The journal''s content is suitable for both the practicing radiologist as well as residents in training.
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