Corey Zachary, Fanburg-Smith Julie C, French Cristy N, Walker Eric A, Kamerow Harry N, Cochran Eric L, Smith Jessica D, Flemming Donald J, Murphey Mark D
UCHealth at University of Colorado Anschutz Medical, Aurora, CO, USA.
Department of Pathology and Pediatrics, UVA Health University of Virginia Medical Center, Charlottesville, VA, 22903, USA.
Skeletal Radiol. 2025 May;54(5):1153-1158. doi: 10.1007/s00256-024-04753-w. Epub 2024 Aug 2.
Pseudoendocrine sarcoma is a rare, recently described intermediate grade sarcoma of uncertain phenotype that most commonly affects the paraspinal location in older patients with a distinctive endocrine/paraganglioma-like morphology and unique CTNNB1 point mutation. While these tumors appear as epithelial or even benign endocrine tumors, these lack markers for such and are highlighted by nuclear expression of beta-catenin. This case is the first among the previously reported only twenty-five cases of this entity, including one original series and a few case reports, to correlate the radiologic imaging with the pathologic features. Furthermore, this case illustrates the oldest-to-date patient with this unique location as a palpable painful chest wall/paraspinal location, with new morphologic observations and, finally, this is only the second case to have this specific CTNNB1 hotspot point mutation for this rare entity.
假性内分泌肉瘤是一种罕见的、最近才被描述的中间级肉瘤,其表型不确定,最常累及老年患者的椎旁部位,具有独特的内分泌/副神经节瘤样形态和独特的CTNNB1点突变。虽然这些肿瘤表现为上皮性甚至良性内分泌肿瘤,但它们缺乏此类标志物,β-连环蛋白的核表达突出显示了这些肿瘤。在先前报道的仅25例该实体病例中,包括一个原始系列和一些病例报告,本病例是第一例将放射影像学与病理特征相关联的病例。此外,本病例说明了迄今为止年龄最大的患者,其具有可触及的疼痛性胸壁/椎旁部位这一独特位置,有新的形态学观察结果,最后,这是该罕见实体中第二例具有这种特定CTNNB1热点点突变的病例。