Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: The Children's Hospital Los Angeles (CHLA) experience, 1991-2010
Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: The Children's Hospital Los Angeles (CHLA) experience, 1991-2010
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DOI：
10.1002/pbc.23349
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发表时间：
2012-06-01
影响因子：
3.2
通讯作者：
Finlay, Jonathan L.
中科院分区：
文献类型：
--
作者：
Gozali, Alexa E.;Britt, Barbara;Finlay, Jonathan L.
背景 脉络丛肿瘤（CPT）很少见，并且在儿童早期占主导地位。已报道与 LiFraumeni 综合征 (LFS) 相关，但这种相关性的生物学和临床意义仍不清楚。我们调查了 20 年来在洛杉矶儿童医院 (CHLA) 接受治疗的所有 CPT 患者的临床特征和总体生存率，特别关注 CPT 与 LFS 的关联。方法。对 1991 年 1 月至 2010 年 12 月期间在 CHLA 诊断并接受 CPT 治疗的 42 名患者的治疗过程和临床结果进行了回顾性评估。对所有患者进行了与多原发性肿瘤和与 LFS 一致的家族史的任何关联。结果。 42 名患者中有 6 名 (16.7%) 表现出与 LFS 一致的表型和/或基因型特征，要么具有独特的癌症家族史，要么同步诊断出不同类型的癌症，要么随后发展为异时性癌症。在 11 名脉络丛癌患者中进行 TP53 种系突变检测，其中 4 名 (36.4%) 呈阳性。一名脉络丛乳头状瘤患者具有 LFS 表型特征，但 TP53 检测呈阴性。结论。患有 CPC 的儿童似乎具有与 LFS 相关的高频率 TP53 种系突变。这就提出了一个问题：是否所有患有 CPC 的儿童都应该接受 TP53 种系突变检测，以便进行筛查以加强后续癌症的早期发现和治疗。儿科血癌2012； 58：905-909。 (C) 2011 年 Wiley 期刊公司。
Background Choroid plexus tumors (CPT) are rare, and predominate in early childhood. An association with the LiFraumeni syndrome (LFS) has been reported, but the biological and clinical implications of this association remain poorly defined. We have investigated the clinical features and overall survival of all CPT patients treated at Children's Hospital Los Angeles (CHLA) over a 20-year period, with particular attention to the association of CPT with LFS. Methods. A retrospective evaluation of the course of therapy and clinical outcome was undertaken on the 42 patients diagnosed with and treated for CPT at CHLA from January 1991 to December 2010. Any association with multiple primary tumors and family histories consistent with LFS was investigated in all patients. Results. Six of the 42 patients (16.7%), demonstrated either phenotypic and/or genotypic characteristics consistent with LFS, with either a distinct family history of cancer, a synchronous diagnosis of a different type of cancer, or the subsequent development of metachronous cancers. Of 11 patients with choroid plexus carcinoma tested for TP53 germline mutations, four (36.4%) were positive. A single patient with a choroid plexus papilloma had phenotypic characteristics of LFS but tested negative for TP53. Conclusions. Children with CPC appear to have a high frequency of TP53 germline mutations in association with LFS. This raises the question whether all children with CPC should be tested for TP53 germline mutations in order to institute screening to enhance early detection and treatment of subsequent cancers. Pediatr Blood Cancer 2012; 58: 905-909. (C) 2011 Wiley Periodicals, Inc.