Di Jing, Alhaidary Ali M, Wang Chi, Liu Jinge, Wei Sainan, Valentino Joseph, Bocklage Therese J
Department of Pathology & Laboratory Medicine, University of Kentucky, Lexington, KY 40536, USA.
Division of Cancer Biostatistics, Department of Internal Medicine, College of Medicine, University of Kentucky, Lexington, KY 40536, USA.
Biomedicines. 2024 Aug 1;12(8):1709. doi: 10.3390/biomedicines12081709.
Nuclear Protein in Testis (NUT)-rearranged tumors comprise predominantly NUT carcinoma but also include certain lymphomas, leukemias, skin appendage tumors, and sarcomas. Although histologically diverse, all are genetically identified by oncogenic rearrangement in the NUTM1 gene. Many fusion partners occur, and NSD3 is NUT carcinoma's third most common partner. Herein, we present a case of a 26-year-old man with an fusion sarcoma. The patient presented at the age of 13 months with a scalp nodule. Over the next 24 years, he experienced five local recurrences and ultimately expired of a rapidly progressive recurrence. His treatment included surgical resections, radiation, and various chemotherapies. Deceptively, the clinical presentation and histopathology aligned with a malignant peripheral nerve sheath tumor, a diagnosis rendered at initial resection with concurrence by a national soft tissue tumor expert. The patient's exceptionally long survival could be due to as the fusion partner, aided by the initial small tumor size and young patient age. Thus, this case expands NUT fusion sarcomas' histologic and immunohistochemical profile to include mimicking a malignant peripheral nerve sheath tumor (MPNST). Additionally, it indicates that the fusion can drive sarcoma genesis.
睾丸核蛋白（NUT）重排肿瘤主要包括NUT癌，但也包括某些淋巴瘤、白血病、皮肤附属器肿瘤和肉瘤。尽管组织学表现多样，但所有这些肿瘤在基因上都可通过NUTM1基因的致癌重排来识别。存在许多融合伴侣，NSD3是NUT癌的第三常见伴侣。在此，我们报告一例26岁男性的 融合肉瘤病例。该患者13个月大时出现头皮结节。在接下来的24年里，他经历了5次局部复发，最终因快速进展的复发而死亡。他接受的治疗包括手术切除、放疗和各种化疗。令人误解的是，临床表现和组织病理学与恶性外周神经鞘瘤相符，最初切除时由一位全国软组织肿瘤专家会诊后做出了该诊断。患者超长的生存期可能归因于 作为融合伴侣，以及最初肿瘤体积小和患者年龄轻。因此，该病例扩展了NUT融合肉瘤的组织学和免疫组化特征，使其包括模仿恶性外周神经鞘瘤（MPNST）。此外，它表明 融合可驱动肉瘤发生。
