NUT midline carcinoma is an aggressive neoplasm defined by chromosomal rearrangements of the nuclear protein in testis (NUT) gene (NUTM1). In this article, we present a strategy to detect this rare tumor through a standard DNA methylation array analysis even when occurring in unusual anatomic sites. We illustrate our approach through a case study in which we detected metastatic spread of a NUT midline carcinoma within a bone marrow biopsy that exhibited histological features of a blastoid, undifferentiated neoplasm. Our strategy builds on molecular data derived from The Cancer Genome Atlas and Gene Expression Omnibus as well as computational strategies adopted from the Brain Tumor Methylation Classifier. It is a combined approach that detects the unusual cell lineage of NUT midline carcinomas and makes diagnostic use of the entity-specific copy number alterations.

NUT中线癌是一种侵袭性肿瘤，由睾丸中核蛋白（NUT）基因的染色体重排定义（NUTM1）。在本文中，我们提出了一种通过标准DNA甲基化阵列分析来检测这种罕见肿瘤的策略，即使它发生在异常的解剖部位。我们通过案例研究说明了我们的方法，在该案例研究中，我们在骨髓活检组织中检测到了NUT中线癌的转移性扩散，并显示了胚样，未分化肿瘤的组织学特征。我们的策略建立在《癌症基因组图谱》和《基因表达综合》的分子数据以及脑肿瘤甲基化分类器采用的计算策略的基础上。它是一种组合方法，可检测NUT中线癌的异常细胞谱系并诊断使用特定于实体的拷贝数变化。