Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
J Clin Pathol. 2010 Jun;63(6):492-6. doi: 10.1136/jcp.2007.052902. Epub 2008 Jun 13.
NUT midline carcinoma (NMC) is a rare, highly lethal cancer that occurs in children and adults of all ages. NMCs uniformly present in the midline, most commonly in the head, neck or mediastinum, as poorly differentiated carcinomas with variable degrees of squamous differentiation. This tumour is defined by rearrangement of the nuclear protein in testis (NUT) gene on chromosome 15q14. In most cases, NUT is involved in a balanced translocation with the BRD4 gene on chromosome 19p13.1, an event that creates a BRD4-NUT fusion gene. Variant rearrangements, some involving the BRD3 gene, occur in the remaining cases. NMC is diagnosed by detection of NUT rearrangement by fluorescence in situ hybridisation or reverse transcriptase PCR. Due its rarity and lack of characteristic histological features, most cases of NMC currently go unrecognised.
神经内分泌肿瘤（NMC）是一种罕见的、高度致命的癌症，可发生于所有年龄段的儿童和成人。NMC 普遍存在于中线部位，最常见于头、颈或纵隔，为低分化癌，具有不同程度的鳞状分化。这种肿瘤由睾丸核蛋白（NUT）基因在染色体 15q14 上的重排定义。在大多数情况下，NUT 参与与染色体 19p13.1 上的 BRD4 基因的平衡易位，从而产生 BRD4-NUT 融合基因。在其余病例中，发生了一些涉及 BRD3 基因的变体重排。通过荧光原位杂交或逆转录聚合酶链反应检测 NUT 重排可诊断 NMC。由于其罕见性和缺乏特征性组织学特征，目前大多数 NMC 病例未被识别。
