Case report of a pediatric medulloblastoma with concurrent MYC and MYCN subclonal amplification in distinct populations of neoplastic cells.

IF 3.4 3区医学 Q1 PATHOLOGY Virchows Archiv Pub Date : 2024-07-01 Epub Date: 2023-05-22 DOI:10.1007/s00428-023-03560-3

Simone Minasi, Francesca Gianno, Lavinia Bargiacchi, Valeria Barresi, Evelina Miele, Manila Antonelli, Francesca Romana Buttarelli

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Abstract

Medulloblastomas (MDBs) are classified into molecular groups showing peculiar immunohistochemical and genetic features and distinct DNA methylation profile. Group 3 and group 4 MDBs have the worst prognosis; the former is treated with high-risk protocols and features MYC amplification, whereas the latter receives standard-risk protocols and harbors MYCN amplification. Herein, we report a unique case of MDB showing histological and immunohistochemical features consistent with non-SHH/non-WNT classic MDB, with both MYCN (30% of tumor cells) and MYC (5-10% tumor cells) amplification in distinct subclones of neoplastic cells at fluorescence in situ hybridization (FISH), characterized by specific patterns. In spite of MYC amplification in only a small percentage of tumor cells, this case had DNA methylation profile consistent with group 3, emphasizing the importance to test both MYC and MYCN amplifications at a single cell level using highly sensitive methods, such as FISH, for diagnostic and therapeutic purposes.

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小儿髓母细胞瘤病例报告：在不同的肿瘤细胞群中同时存在 MYC 和 MYCN 亚克隆扩增。

髓母细胞瘤（Medulloblastomas，MDBs）被分为不同的分子组别，这些组别具有不同的免疫组化和遗传特征，DNA甲基化谱也各不相同。第 3 组和第 4 组 MDB 的预后最差；前者接受高风险方案治疗，并伴有 MYC 扩增，而后者接受标准风险方案治疗，并伴有 MYCN 扩增。在此，我们报告了一例独特的MDB病例，其组织学和免疫组化特征与非SHH/非WNT典型MDB一致，在荧光原位杂交（FISH）中，MYCN（占肿瘤细胞的30%）和MYC（占肿瘤细胞的5-10%）在不同的亚克隆肿瘤细胞中均有扩增，且具有特定的模式。尽管只有一小部分肿瘤细胞出现 MYC 扩增，但该病例的 DNA 甲基化特征与第 3 组一致，这强调了使用高灵敏度方法（如 FISH）在单细胞水平检测 MYC 和 MYCN 扩增的重要性，从而达到诊断和治疗的目的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Virchows Archiv 医学-病理学

CiteScore

7.40

自引率

2.90%

发文量

204

审稿时长

4-8 weeks

期刊介绍： Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.