Nong Tiffany, Wang Xiaoqiong, Li Wenhui, Madarang Ellen, Watts Justin, Taylor Justin
University of Miami Sylvester Comprehensive Cancer Center, Division of Hematology, Miami, FL, USA.
University of Miami Miller Sylvester Comprehensive Cancer Center, Department of Pathology, Miami, FL, USA.
Leuk Res Rep. 2025 Aug 7;24:100535. doi: 10.1016/j.lrr.2025.100535. eCollection 2025.
Hairy cell leukemia (HCL) is a rare, indolent B-cell lymphoma that is highly responsive to the purine analog cladribine. A defining feature of classical HCL is the presence of the BRAF V600E mutation, which is almost universally present. The transformation of HCL to an aggressive large B-cell lymphoma is extremely rare. Here, we report a case of intercurrent presentation of worsening classical HCL with a rapidly evolving BRAF V600E-negative aggressive large B-cell lymphoma and associated hemophagocytic lymphohistiocytosis (HLH). The contiguous presentation of these three entities posed significant diagnostic and therapeutic challenges. Despite treatment with cladribine, the patient's condition deteriorated, leading to a palliative focus. This case underscores the challenges of managing multiple intercurrent hematologic malignancies manifesting with overlapping symptoms and sites of organ involvement but non-overlapping treatments. The presence of HLH as a complication in patients with malignancy further complicates the clinical picture and requires early recognition and prompt intervention. Further research is needed to better understand the pathophysiological links between HCL, large cell transformation, and HLH. Additionally, registry or other cross-sectional studies with larger numbers of HCL patients could clarify the exact frequency of these rare but fatal complications.
毛细胞白血病(HCL)是一种罕见的惰性B细胞淋巴瘤,对嘌呤类似物克拉屈滨高度敏感。经典HCL的一个决定性特征是几乎普遍存在的BRAF V600E突变。HCL转化为侵袭性大B细胞淋巴瘤极为罕见。在此,我们报告一例并发病情加重的经典HCL病例,同时伴有快速进展的BRAF V600E阴性侵袭性大B细胞淋巴瘤及相关噬血细胞性淋巴组织细胞增生症(HLH)。这三种疾病的连续出现带来了重大的诊断和治疗挑战。尽管使用克拉屈滨进行了治疗,但患者的病情仍恶化,最终只能采取姑息治疗。该病例凸显了管理多种并发血液系统恶性肿瘤的挑战,这些肿瘤表现出重叠的症状和器官受累部位,但治疗方法不重叠。HLH作为恶性肿瘤患者的一种并发症,进一步使临床情况复杂化,需要早期识别和及时干预。需要进一步研究以更好地理解HCL、大细胞转化和HLH之间的病理生理联系。此外,针对大量HCL患者的登记研究或其他横断面研究可以明确这些罕见但致命并发症的确切发生率。