Rahman Khaliqur, Kumari Surabhi, Singh Manish Kumar, Gupta Ruchi, Yadav Geeta, Kumari Neeraj, Nityan Soniya
Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India.
J Cancer Res Ther. 2018 Jul-Sep;14(5):1130-1134. doi: 10.4103/0973-1482.188432.
Hairy cell leukemia (HCL) is a rare, low-grade mature B-cell neoplasm with a characteristic clinical, morphological, immunophenotypic, and more recently described molecular (BRAF p.V600E mutation) profile. It typically affects middle-aged to elderly male who present with pancytopenia and massive splenomegaly. Lymphadenopathy is usually not seen. Atypical presentations such as absence of splenomegaly and presence of lymphadenopathy and leukocytosis, a hypoplastic marrow masquerading as aplastic anemia, pose a diagnostic challenge to both clinician and pathologist. A diligent morphological examination to look for the presence of hairy cells along with flow cytometric immunophenotyping showing consistent bright expression of CD200, in addition to well-described characteristic immunophenotype, helps in correctly diagnosing the case. This can be further confirmed by the consistent presence of V600E point mutation in BRAF gene. The correct identification of HCL in these unusual clinical presentations is of utmost importance owing to a different treatment approach in these cases. We present here four such cases with atypical presentation.
毛细胞白血病(HCL)是一种罕见的、低度恶性的成熟B细胞肿瘤,具有独特的临床、形态学、免疫表型特征,最近还发现了分子特征(BRAF基因p.V600E突变)。它通常影响中年至老年男性,表现为全血细胞减少和巨脾。通常无淋巴结病。非典型表现,如无脾肿大、有淋巴结病和白细胞增多,以及骨髓发育不全伪装成再生障碍性贫血,给临床医生和病理学家都带来了诊断挑战。除了详细描述的特征性免疫表型外,仔细的形态学检查以寻找毛细胞的存在,以及流式细胞术免疫表型分析显示CD200持续明亮表达,有助于正确诊断病例。BRAF基因中V600E点突变的持续存在可进一步证实诊断。由于这些病例的治疗方法不同,在这些不寻常的临床表现中正确识别HCL至关重要。我们在此介绍四例具有非典型表现的此类病例。