Marhoon Sara E, Ali Ali H, Husain Ali, Elashwah Salma, AbdelAziz Azza, Elias Mariam
College of Medicine, Mansoura University, Mansoura, Egypt.
Medical Oncology Unit, Internal Medicine Department, Oncology Center, Mansoura University, Mansoura, Egypt.
Eur J Case Rep Intern Med. 2025 May 16;12(6):005250. doi: 10.12890/2025_005250. eCollection 2025.
Rosai-Dorfman disease (RDD) is a histiocytic disorder that was recently reclassified as a histiocytic neoplasm. It is characterized by nodal and extranodal involvement. Leukaemia-associated RDD is a rare subtype of neoplasia-associated RDD, particularly when leukaemia precedes RDD, with only one paediatric case reported in the literature.
A 33-year-old woman presented with cervical swelling that had persisted for one month. Ultrasound examination and biopsy confirmed the diagnosis of RDD. The patient subsequently developed raccoon eyes and bilateral eyelid oedema. Laboratory investigations revealed bicytopenia and leukocytosis. Unexpectedly, bone marrow aspirate and flow cytometry confirmed the presence of acute myeloid leukaemia (AML). Following repeated complaints of headache, brain magnetic resonance imaging revealed a callosal lesion, suggestive of a space-occupying lesion. One year later, the patient relapsed and died from septicaemia.
This case report describes the progression of RDD to AML in an adult, highlighting the need for long-term follow-up and further research into its pathogenesis to improve outcomes.
The occurrence of Rosai-Dorfman disease (RDD) followed by acute myeloid leukaemia is extremely rare, suggesting more than a coincidental link and providing a foundation for research into RDD pathophysiology and prognosis.Physicians should be aware of the potential progression of RDD to malignancy, even after complete remission, and ensure thorough follow-up for early detection.
罗萨伊-多夫曼病（RDD）是一种组织细胞疾病，最近被重新分类为组织细胞肿瘤。其特征为淋巴结和结外受累。白血病相关的RDD是肿瘤相关RDD的一种罕见亚型，尤其是当白血病先于RDD出现时，文献中仅报道过1例儿科病例。
一名33岁女性因颈部肿胀持续1个月前来就诊。超声检查和活检确诊为RDD。该患者随后出现了黑眼圈和双侧眼睑水肿。实验室检查显示全血细胞减少和白细胞增多。出乎意料的是，骨髓穿刺和流式细胞术证实存在急性髓系白血病（AML）。在反复出现头痛症状后，脑部磁共振成像显示胼胝体病变，提示占位性病变。1年后，患者复发并死于败血症。
本病例报告描述了成人RDD进展为AML的过程，强调了长期随访以及对其发病机制进行进一步研究以改善治疗结果的必要性。
罗萨伊-多夫曼病（RDD）继发急性髓系白血病极为罕见，提示两者之间存在不止偶然的联系，为研究RDD的病理生理学和预后提供了基础。医生应意识到即使在完全缓解后，RDD仍有进展为恶性肿瘤的可能性，并确保进行全面随访以早期发现。
