Xu Kailun, Sun Zhaoyun, Wang Lifeng, Guan Wenbin
Department of Pathology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of Cardiothoracic Surgery, Second Clinical Medical College, Nanjing Medical University, Nanjing, China.
Front Oncol. 2022 Oct 24;12:1001959. doi: 10.3389/fonc.2022.1001959. eCollection 2022.
Embryonal tumors with multilayered rosettes (ETMRs) are a histologically heterogeneous entity and gather embryonal tumors with abundant neuropil and true rosettes (ETANTRs), ependymoblastoma, and medulloepithelioma. ETMRs are highly aggressive and associated with poorer clinical courses. However, cases of this entity are rare, and advances in molecular genetics and therapy are minor. The purpose of our study was to retrospectively analyze the clinical, pathological features, and prognostic factors of ETMRs.
Our cohort consisted of 17 patients diagnosed with ETMRs in our hospital from 2018 to 2022, and two of them were lost to follow-up. Clinical data were retrieved, and immunohistochemistry and genetic analyses were performed.
Among 17 cases, 16 were ETANTRs, and one was medulloepithelioma. Morphologically, tumor cells of ETANTRs could transform into anaplasia and lose the biphasic architecture during tumor progression. Immunohistochemistry of LIN28A revealed positive expression in 17 cases, and the expression of LIN28A was more intense and diffuse in the recurrent lesions than in primaries. The increased copy numbers were detected in the primary tumor and recurrence of patient 8. Moreover, the incidence of metastatic disease was 100% in patients aged > 4 years and 18% in the younger group. For patients receiving chemotherapy, the median overall survival time was 7.4 months, while that of those who didn't receive it was 1.2 months. Nevertheless, surgical approaches, radiotherapy, age at presentation, gender, tumor location, and metastatic status were not associated with independent prognosis.
ETANTR might not present as the typical morphologies during tumor progression, so analyses of amplification and Lin28A antibody are indispensable for diagnosing ETMRs accurately. Children aged > 4 years tend to have a higher rate of metastasis in ETMRs. Chemotherapy is the only prognostic factor for ETMRs patients with a favorable prognosis. The biological nature and clinical patterns for recurrent diseases need to be further demonstrated to predict prognosis and guide treatment.
具有多层菊形团的胚胎性肿瘤（ETMRs）是一种组织学上异质性的实体，包括具有丰富神经毡和真性菊形团的胚胎性肿瘤（ETANTRs）、室管膜母细胞瘤和髓上皮瘤。ETMRs具有高度侵袭性，且临床病程较差。然而，该实体病例罕见，分子遗传学和治疗方面进展甚微。我们研究的目的是回顾性分析ETMRs的临床、病理特征及预后因素。
我们的队列包括2018年至2022年在我院诊断为ETMRs的17例患者，其中2例失访。检索临床资料并进行免疫组化和基因分析。
17例中，16例为ETANTRs，1例为髓上皮瘤。形态学上，ETANTRs的肿瘤细胞在肿瘤进展过程中可转变为间变并失去双相结构。LIN28A免疫组化显示17例均呈阳性表达，且LIN28A在复发病变中的表达比原发病变更强烈和弥漫。在患者8的原发肿瘤和复发灶中检测到拷贝数增加。此外，年龄>4岁患者的转移率为100%，较年轻组为18%。接受化疗的患者中位总生存时间为7.4个月，未接受化疗的患者为1.2个月。然而，手术方式、放疗、就诊年龄、性别、肿瘤部位和转移状态与独立预后无关。
ETANTR在肿瘤进展过程中可能不表现为典型形态，因此扩增分析和Lin28A抗体检测对于准确诊断ETMRs不可或缺。年龄>4岁的儿童在ETMRs中转移率往往较高。化疗是ETMRs患者预后良好的唯一预后因素。复发性疾病的生物学特性和临床模式需要进一步阐明以预测预后并指导治疗。
