Bakshi Nasir, Al Hejazi Ayman, Al-Maghraby Hatim, Al Mugairi Areej, Alotaibi Ahmad S, Khogeer Haitham, Seliem Rania Medhat, Pandita Ramesh, Raslan Heba, Aung Phyu P, Ohgami Robert S
Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.
Department of Oncology, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh 11426, Saudi Arabia.
Cancers (Basel). 2025 Jan 11;17(2):221. doi: 10.3390/cancers17020221.
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive orphan hematopoietic malignancy characterized by cutaneous and systemic hematologic involvement. BPDCN is frequently misidentified, but early, accurate diagnosis is critical to extending patient survival using tagraxofusp, a first-in-class CD123-targeted therapy, and increasing their chances of receiving a potentially curative stem cell transplantation. Cases of BPDCN in countries of the Gulf Cooperation Council are lower than the extrapolated incidence from other geographic locations due to lack of awareness of key diagnostic features, lack of consensus on the minimal phenotype for diagnosis, and lack of local immunohistochemistry testing facilities, contributing to underdiagnosis in this region. Practical recommendations, a streamlined diagnostic panel, and suggested multidisciplinary approaches based on expert experience regarding diagnostic and clinical challenges specific to this region, and a review of the literature are presented here to facilitate diagnosis of BPDCN in this region by primary care physicians, dermatologists, and hematologists.
母细胞性浆细胞样树突状细胞肿瘤（BPDCN）是一种侵袭性罕见造血系统恶性肿瘤，其特征为皮肤和全身血液系统受累。BPDCN常被误诊，但早期准确诊断对于使用首个靶向CD123的疗法他格拉索夫延长患者生存期以及增加其接受潜在治愈性干细胞移植的机会至关重要。由于对关键诊断特征缺乏认识、对诊断的最小表型缺乏共识以及缺乏当地免疫组织化学检测设施，海湾合作委员会国家的BPDCN病例低于其他地理位置推断的发病率，导致该地区诊断不足。本文提出了实用建议（精简诊断组套）、基于专家经验针对该地区特定诊断和临床挑战的多学科方法建议，并对文献进行了综述，以方便初级保健医生、皮肤科医生和血液科医生在该地区诊断BPDCN。
