Departments of Dermatology and Pathology, UCSF, San Francisco, CA.
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Am J Surg Pathol. 2019 Jun;43(6):737-746. doi: 10.1097/PAS.0000000000001235.
Activating NTRK1 fusions have been described as oncogenic events across the spectrum of Spitz tumors. Herein we report a series of 38 Spitz tumors with NTRK1 fusion. These Spitz tumors have distinctive histopathologic features characterized by filigree-like rete ridges which are elongated, thin and branched, dermal melanocytes arranged in a rosette-like configuration, and marked diminishment of melanocyte size with descent into the dermis. These features are distinct from those of other genetically defined subtypes of Spitz tumors and can aid in microscopic diagnosis and help prioritize in case selection for molecular testing in the rare patients that need targeted therapy.
NTRK1 融合的激活已被描述为 Spitz 肿瘤谱中的致癌事件。在此，我们报告了一系列 38 例 NTRK1 融合的 Spitz 肿瘤。这些 Spitz 肿瘤具有独特的组织病理学特征，表现为纤细的网织状嵴，细长而分支，真皮黑素细胞呈玫瑰花结样排列，黑素细胞大小明显减小并向真皮下降。这些特征与其他遗传定义的 Spitz 肿瘤亚型不同，有助于显微镜诊断，并有助于在极少数需要靶向治疗的患者中选择分子检测的病例。
