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小儿NF2、SMARCB1和LZTR1相关神经鞘瘤病的癌症及中枢神经系统肿瘤监测最新进展

Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis.

作者信息

Perrino Melissa R, Jongmans Marjolijn C J, Tomlinson Gail E, Greer Mary-Louise C, Scollon Sarah R, Mitchell Sarah G, Hansford Jordan R, Schultz Kris Ann P, Kohlmann Wendy K, Kalish Jennifer M, MacFarland Suzanne P, Das Anirban, Maxwell Kara N, Pfister Stefan M, Weksberg Rosanna, Michaeli Orli, Tabori Uri, Ney Gina M, Lupo Philip J, Brzezinski Jack J, Stewart Douglas R, Woodward Emma R, Kratz Christian P

机构信息

Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.

Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.

出版信息

Clin Cancer Res. 2025 Apr 14;31(8):1400-1406. doi: 10.1158/1078-0432.CCR-24-3278.

Abstract

Schwannomatosis (SWN) is a distinct cancer predisposition syndrome caused by germline pathogenic variants in the genes NF2, SMARCB1, or LZTR1. There is a significant clinical overlap between these syndromes with the hallmark of increased risk for cranial, spinal, and peripheral schwannomas. Neurofibromatosis type 2 was recently renamed as NF2-related SWN and is the most common SWN syndrome, with increased risk for bilateral vestibular schwannomas, intradermal schwannomas, meningiomas, and less commonly, ependymoma. SMARCB1-related SWN is a familial SWN syndrome associated with peripheral and spinal schwannomas and an increased risk for meningiomas and malignant peripheral nerve sheath tumors, even in the absence of radiation. These individuals do not develop bilateral vestibular schwannomas. Finally, patients with LZTR1-related SWN typically present with peripheral schwannomas, and unilateral vestibular schwannomas have been reported. The following perspective is intended to highlight the clinical presentation and international tumor surveillance recommendations across these SWN syndromes.

摘要

神经鞘瘤病(SWN)是一种由NF2、SMARCB1或LZTR1基因种系致病性变异引起的独特的癌症易感性综合征。这些综合征之间存在显著的临床重叠,其特征是患颅神经鞘瘤、脊神经鞘瘤和周围神经鞘瘤的风险增加。2型神经纤维瘤病最近被重新命名为NF2相关的SWN,是最常见的SWN综合征,双侧前庭神经鞘瘤、皮内神经鞘瘤、脑膜瘤的患病风险增加,室管膜瘤则较少见。SMARCB1相关的SWN是一种家族性SWN综合征,与周围神经鞘瘤和脊神经鞘瘤有关,即使在没有辐射的情况下,患脑膜瘤和恶性周围神经鞘膜瘤的风险也会增加。这些个体不会发生双侧前庭神经鞘瘤。最后,LZTR1相关SWN的患者通常表现为周围神经鞘瘤,并且有单侧前庭神经鞘瘤的报道。以下观点旨在强调这些SWN综合征的临床表现和国际肿瘤监测建议。

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