Department of Internal Medicine, Flushing Hospital Medical Center, Flushing, NY, USA.
Department of Nephrology, Yale School of Medicine, New Haven, CT, USA.
Am J Case Rep. 2024 Mar 8;25:e942511. doi: 10.12659/AJCR.942511.
BACKGROUND Sinus histiocytosis with massive lymphadenopathy (SHML), Rosai-Dorfman disease, or Rosai-Dorfman-Destombes disease (RDD), is a rare non-Langerhans cell of unknown etiology. This report is of a case of isolated SHML, or Rosai-Dorfman disease, presenting as a right atrial mass with involvement of the tricuspid valve in a 54-year-old woman. This case shows the challenges of diagnosing this condition in the heart and the challenges of treating this rare disease with the limited information on the efficacy of the treatment modalities. CASE REPORT A 54-year-old Asian woman presented to the Emergency Department with chest and right upper quadrant pain. Transthoracic echocardiogram and computed tomography angiography showed a right atrium mass at the level of the tricuspid valve, causing moderate-severe regurgitation. Partial tumor debulking with biopsies later showed pink-yellow soft tissue, with histopathology showing histiocytes demonstrating emperipolesis. The tumor was positive for CD68 and S100 and negative for CD1a, consistent with Rosai-Dorfman disease. Subsequently the patient received targeted therapy with cobimetinib, without worsening cardiac function or disease progression. CONCLUSIONS This case highlights the challenging histopathological diagnosis of SHML, or Rosai-Dorfman disease, particularly in non-lymphoid tissue, such as the heart. Obtaining tissue for diagnosis can be challenging in this organ. Treatment is challenging when the mass cannot be extracted completely, like in our case, because other forms of therapies are not well studied and warrant further investigation, such as cobimetinib, which is a MEK pathway inhibitor approved in 2022 by the US Food and Drug Administration for histiocytic neoplasms.
窦组织细胞增生伴巨大淋巴结病(SHML)、罗萨达-多夫曼病或罗萨达-多夫曼-德斯通布斯病(RDD)是一种罕见的非朗格汉斯细胞起源不明的疾病。本报告介绍了一例孤立性 SHML 或罗萨达-多夫曼病,表现为右心房肿块,累及 54 岁女性的三尖瓣。本病例显示了在心脏中诊断这种疾病的挑战,以及在缺乏治疗方式疗效信息的情况下治疗这种罕见疾病的挑战。
一名 54 岁亚裔女性因胸痛和右上腹痛就诊于急诊科。经胸超声心动图和计算机断层扫描血管造影显示三尖瓣水平的右心房肿块,导致中度至重度反流。随后进行部分肿瘤切除术和活检,显示出粉红色-黄色软组织,组织病理学显示组织细胞表现出吞噬现象。肿瘤 CD68 和 S100 阳性,CD1a 阴性,符合罗萨达-多夫曼病。随后,患者接受了 cobimetinib 的靶向治疗,没有导致心脏功能恶化或疾病进展。
本病例强调了 SHML 或罗萨达-多夫曼病的具有挑战性的组织病理学诊断,特别是在非淋巴组织如心脏中。在该器官中获取组织进行诊断可能具有挑战性。当肿块无法完全切除时,如在我们的病例中,治疗具有挑战性,因为其他形式的治疗方法尚未得到充分研究,需要进一步研究,例如 cobimetinib,这是一种 MEK 通路抑制剂,于 2022 年被美国食品和药物管理局批准用于治疗组织细胞肿瘤。