颅内生殖细胞肿瘤的新诊断方法和治疗后临床表型。

Novel Diagnostic Methods and Posttreatment Clinical Phenotypes Among Intracranial Germ Cell Tumors.

机构信息

Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota.

Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

出版信息

Neurosurgery. 2020 Sep 1;87(3):563-572. doi: 10.1093/neuros/nyaa108.

DOI:10.1093/neuros/nyaa108

PMID:32348488

Abstract

BACKGROUND

Central nervous system (CNS) germ cell tumors (GCT) are rare and complex pediatric neoplasms, the optimal management of which remains an area of active investigation.

OBJECTIVE

To present an updated cohort study, with particular attention to novel diagnostic methods and posttreatment clinical phenotypes.

METHODS

A single-institution cohort study of 80 primary, neurosurgically managed, CNS GCTs was conducted at Mayo Clinic, 1988-2017.

RESULTS

Postchemotherapy resection (eg, second-look surgery) was frequently required (27.0%), especially after adjuvant therapies for nongerminomatous GCTs (NGGCTs; 14 of 28 cases, excluding mature teratoma) and significantly associated with pineal lesions, as compared to neurohypophyseal or bifocal lesions (43.6% vs 5.9% vs 6.7%, P = .004), a finding that retained statistical significance after adjusting for index extent of resection and histology (P = .04). Essentially every NGGCT case underwent at least 1 craniotomy, either on presentation, as second-look surgery, or following local recurrence. Mature teratomatous tissue was highly incident in second-look specimens (84.2%), even among lesions initially diagnosed as germinomas. Pretreatment cerebrospinal fluid (CSF) cell fraction analysis demonstrated an association between single lesions and neutrophil predominance, whereas nongerminomatous GCTs were associated with increased monocyte fractions.

CONCLUSION

CNS GCTs are clinically heterogeneous lesions, resulting in numerous opportunities for improved understanding and clinical management via novel diagnostic and therapeutic protocols. Samples from second-look surgeries for recurrent germinomas frequently demonstrate teratomatous tissue, suggesting possible underdiagnosis of mixed GCTs-particularly among pineal lesions. GCT subtypes demonstrate differential cell fraction distributions on CSF analysis, a novel and perhaps diagnostically helpful finding that requires validation in external cohorts.

摘要

背景

中枢神经系统（CNS）生殖细胞瘤（GCT）是罕见且复杂的儿科肿瘤，其最佳治疗方法仍在积极研究中。

目的

介绍一项更新的队列研究，特别关注新的诊断方法和治疗后临床表型。

方法

在梅奥诊所进行了一项单机构队列研究，纳入了 1988 年至 2017 年期间经神经外科治疗的 80 例原发性 CNS GCT。

结果

辅助化疗后常需要进行肿瘤切除（如二次探查手术）（27.0%），尤其是非生殖细胞瘤性 GCT（NGGCT；28 例中除成熟畸胎瘤外的 14 例），与松果体病变明显相关，而与神经垂体或双灶病变相比，这一发现具有统计学意义（43.6%比 5.9%比 6.7%，P=0.004），调整肿瘤切除范围和组织学后仍有统计学意义（P=0.04）。几乎每个 NGGCT 病例都至少进行了一次开颅手术，要么是初诊时，要么是作为二次探查手术，要么是局部复发后。成熟的畸胎瘤组织在二次探查标本中高度存在（84.2%），即使在最初诊断为生殖细胞瘤的病变中也是如此。治疗前脑脊液（CSF）细胞分数分析显示，单病灶与中性粒细胞优势之间存在关联，而 NGGCT 与单核细胞分数增加有关。

结论

CNS GCT 是具有临床异质性的病变，通过新的诊断和治疗方案，可以为更好地理解和临床管理提供许多机会。对于复发性生殖细胞瘤进行二次探查手术的样本中，经常显示出畸胎瘤组织，这表明混合 GCT 可能存在漏诊，尤其是在松果体病变中。GCT 亚型在 CSF 分析中显示出不同的细胞分数分布，这是一种新的、可能具有诊断价值的发现，需要在外部队列中进行验证。