Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 1st Street SW, Rochester, MN, 55905, USA.
Ameripath at Medical City, Plano, TX, USA.
Virchows Arch. 2023 Dec;483(6):899-904. doi: 10.1007/s00428-023-03695-3. Epub 2023 Nov 13.
Pseudoendocrine sarcoma (PES) is a recently described neoplasm typically arising in paravertebral soft tissues. Histologically, PES resembles well-differentiated neuroendocrine tumors but lacks expression of epithelial/neuroendocrine markers, and most show aberrant nuclear β-catenin positivity. We describe the clinicopathological and molecular features and DNA methylation profile of one PES. A resected paraspinal soft tissue mass in a 52-year-old man showed a neuroendocrine-like neoplasm, negative for keratin, and synaptophysin and showing diffuse nuclear β-catenin expression. Targeted NGS confirmed a CTNNB1 (p.S37C) mutation. Whole genome methylation analysis showed no match to any methylation class in the central nervous system tumor (versions 11b6 and 12b6) or sarcoma classifier (calibrated scores of ≤0.3), but clustered together with a recently reported PES in which methylation analysis was also performed. He remained disease-free for 18 months after surgery, followed by chemoradiation. As more cases are examined, our findings suggest that PES may have a unique methylation profiling signature.
假性内分泌肉瘤（PES）是一种新近描述的肿瘤，通常发生在椎旁软组织中。组织学上，PES 类似于分化良好的神经内分泌肿瘤，但缺乏上皮/神经内分泌标志物的表达，大多数表现为异常核 β-连环蛋白阳性。我们描述了一例 PES 的临床病理和分子特征以及 DNA 甲基化谱。一名 52 岁男性的切除性椎旁软组织肿块显示出一种神经内分泌样肿瘤，角蛋白、突触素阴性，弥漫性核 β-连环蛋白表达阳性。靶向 NGS 证实 CTNNB1 （p.S37C）突变。全基因组甲基化分析显示与中枢神经系统肿瘤（版本 11b6 和 12b6）或肉瘤分类器（校准分数≤0.3）中的任何甲基化类均不匹配，但与最近报道的进行了甲基化分析的 PES 一起聚类。他在手术后 18 个月无疾病存活，随后进行了化疗和放疗。随着更多病例的检查，我们的发现表明 PES 可能具有独特的甲基化谱特征。
