JAK2 V617F positive essential thrombocythemia developing in a patient with CD5-chronic lymphocytic leukemia

• Published in: Chinese medical journal 2012-06, Vol.125 (11), p.2076-2079
• Main Authors: Wei, Ju, Wang, Chun, Qin, You-Wen, Zhu, Jun, Gao, Yang-Rong, Cai, Qi, Yan, Shi-Ke
• Format: Article
• Language: English
• Subjects: Aged, 80 and over; CD5 Antigens - metabolism; Humans; In Situ Hybridization; Janus Kinase 2 - genetics; Leukemia, Lymphocytic, Chronic, B-Cell - genetics; Leukemia, Lymphocytic, Chronic, B-Cell - metabolism; Male; Mutation; Thrombocythemia, Essential - genetics; Thrombocythemia, Essential - metabolism; T淋巴细胞; 原发性; 嗜中性粒细胞; 增多症; 患者; 慢性; 淋巴细胞白血病; 血小板
• ISSN: 0366-6999; 2542-5641
• DOI: 10.3760/cma.j.issn.0366-6999.2012.11.044

Coexistence of chronic lymphocytic leukemia （CLL） and essential thrombocythemia （ET） in a patient is extremely rare, with only 10 cases reported thus far in literature. This paper describes a 94-year-old male having atypical B-CLL with CD5- （CD5-） phenotype and ET. In this patient, we performed interphase fluorescence in situ hybridization （FISH） analysis which revealed 13q14.3 deletion in 31% of B-lymphocyte nuclei and RB1 deletion in 27% of B-lymphocyte nuclei, but not in neutrophils and T-lymphocytes. Furthermore, we identified JAK2 V617F mutation in the peripheral blood nucleated cells and neutrophils, but not in the B- and T-lymphocyte populations. Therefore, it was concluded that the occurrence of CD5- B-CLL and ET in this patient was pathogenically independent.