Alvarez-Lesmes Jessica, Rosenberg Andrew, Cassidy Daniel P
Department of Pathology, Division of Hematopathology, the University of Miami Miller School of Medicine, Sylvester Comprehensive Cancer Center, and Jackson Memorial Hospital, Miami, FL, USA.
Department of Pathology, Division of Bone and Soft Tissue, University of Miami Miller School of Medicine, Sylvester Comprehensive Cancer Center, and Jackson Memorial Hospital, Miami, FL, USA.
Int J Surg Pathol. 2025 Aug 19:10668969251363992. doi: 10.1177/10668969251363992.
Rosai-Dorfman disease is an uncommon histiocytic neoplasm that is often self-limiting; however, rarely, it exhibits aggressive behavior and may undergo biological transformation to histiocytic sarcoma. Pathogenic genetic drivers of Rosai-Dorfman disease include recurrent genetic abnormalities in , , and Mutation of is a well-known oncogenic driver in histiocytic neoplasms, including up to 50% of Langerhans cell histiocytosis lesions, Erdheim-Chester disease, and adult and juvenile xanthogranuloma. However, mutations have been documented in only 4 reported Rosai-Dorfman disease specimens, and none were rearrangements. Herein, we report the first instance of Rosai-Dorfman disease with :: gene rearrangement, a unique gene fusion, and describe its clinicopathological features.
罗萨伊-多夫曼病是一种罕见的组织细胞肿瘤，通常具有自限性；然而，极少数情况下，它会表现出侵袭性，并可能发生生物学转化为组织细胞肉瘤。罗萨伊-多夫曼病的致病基因驱动因素包括 、 、 和 中的复发性基因异常。 的突变是组织细胞肿瘤中一种著名的致癌驱动因素，包括高达50%的朗格汉斯细胞组织细胞增生症病变、厄尔德海姆-切斯特病以及成人和青少年黄色肉芽肿。然而，仅在4例报告的罗萨伊-多夫曼病标本中记录到 突变，且均无重排。在此，我们报告首例伴有 :: 基因重排、独特基因融合的罗萨伊-多夫曼病，并描述其临床病理特征。
