四个不同的同侧前庭分裂瘤:一例镶嵌型 NF2 相关分裂瘤病。

IF 2.3 4区 医学 Q2 PATHOLOGY
Alexandra E Tunkel, Emily R Youner, Hayk Barseghyan, Yulong Fu, Surajit Bhattacharya, Miriam Bornhorst, Ashkan S Monfared
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引用次数: 0

摘要

目的:区分散发性和种系/镶嵌型 NF2 相关精神分裂症对于确保患者获得适当的长期治疗非常重要。在本报告中,我们描述了一例患有 4 个同侧分裂瘤的独特病例,并确定了可准确诊断镶嵌型 NF2 相关分裂瘤病的测序模式组合:我们介绍了一名 32 岁女性患者,她的父亲有前庭分裂瘤家族史,右侧分裂瘤累及耳蜗顶端和基底匝、外侧半规管和内耳道 (IAC)。利用新一代测序(NGS)、多重连接依赖性探针扩增(MLPA)和光学基因组图谱(OGM)对来自两个肿瘤(迷宫内肿瘤和内耳道肿瘤)的血液和冷冻组织进行了遗传分析:结果:NF2、LZTR1 和 SMARCB1 的种系检测结果均为阴性。肿瘤基因检测显示,两个肿瘤之间存在一个共同的NF2致病变体("首次发现"),但也存在不同的 "第二次发现 "NF2变体,其中包括IAC肿瘤中的22号染色体镶嵌缺失,只有在OGM中才能看到,这与镶嵌型NF2相关的裂隙瘤病一致:结论:需要进行包括 NGS、MLPA 和 OGM 在内的多模式测序,以确保对该患者的镶嵌型 NF2 相关分裂瘤病做出正确诊断。类似的方法也可用于同侧多发肿瘤和疑似肿瘤易感性的其他患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Four distinct ipsilateral vestibular schwannomas: A case of mosaic NF2-related schwannomatosis.

Objectives: Distinguishing between sporadic and germline/mosaic NF2-related schwannomatosis is important to ensure that patients have appropriate long-term care. With this report, we describe a unique case of a patient with 4 ipsilateral schwannomas and identify a combination of sequencing modalities that can accurately diagnose mosaic NF2-related schwannomatosis.

Methods: We present a 32-year-old woman with a familial history of vestibular schwannoma in her father and right-sided schwannomas involving the apical and basal turns of cochlea, lateral semicircular canal, and internal auditory canal (IAC). Genetic analysis of blood and frozen tissue from 2 tumors (intralabyrinthine and IAC tumors) was performed using next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and optical genome mapping (OGM).

Results: Germline testing for NF2, LZTR1, and SMARCB1 was negative. Tumor genetic testing revealed a shared NF2 pathogenic variant between the 2 tumors ("first hit") but distinct "second hit" NF2 variants, including mosaic loss of chromosome 22 in the IAC tumor seen only with OGM, consistent with mosaic NF2-related schwannomatosis.

Conclusions: Multimodality sequencing, including NGS, MLPA, and OGM, was required to ensure appropriate diagnosis of mosaic NF2-related schwannomatosis in this patient. A similar approach can be used for other patients with multiple ipsilateral tumors and suspected tumor predisposition.

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来源期刊
CiteScore
7.70
自引率
2.90%
发文量
367
审稿时长
3-6 weeks
期刊介绍: The American Journal of Clinical Pathology (AJCP) is the official journal of the American Society for Clinical Pathology and the Academy of Clinical Laboratory Physicians and Scientists. It is a leading international journal for publication of articles concerning novel anatomic pathology and laboratory medicine observations on human disease. AJCP emphasizes articles that focus on the application of evolving technologies for the diagnosis and characterization of diseases and conditions, as well as those that have a direct link toward improving patient care.
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