KENTARO YOSHINAGA
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine
   Position   Assistant Professor
Article types Original article
Language English
Peer review Peer reviewed
Title Genetic alterations in patients with chronic leucocytosis and persistent thrombocytosis.
Journal Formal name:Journal of genetics
Abbreviation:J Genet
ISSN code:09737731/00221333
Domestic / ForeginForegin
Volume, Issue, Page 101,pp.11
Author and coauthor Mori Naoki†*, Ohwashi-Miyazaki Mari, Yoshinaga Kentaro, Ogasawara Toshie, Marshall Shoko, Shiseki Masayuki, Sakura Hiroshi, Tanaka Junji
Publication date 2022
Summary To elucidate the relevance of genetic alterations, we analysed 17 genes known to be involved in haematological neoplasms in patients with chronic leucocytosis and patients with persistent thrombocytosis. Mutations of the JAK2, SETBP1 and ASXL1 genes were found in 1/13, 1/13, and 2/13 patients with leucocytosis, respectively. Mutations of the JAK2, CALR, SETBP1 and ASXL1 genes were found in 1/5, 1/5, 1/5 and 2/5 patients with thrombocytosis, respectively. One leucocytosis patient with a JAK2 V617F mutation developed polycythaemia vera. Another leucocytosis patient developed Philadelphia chromosome-negative chronic myeloid leukaemia (Ph(-) CML) accompanied by t(9;12)(q34.1;p13.?3) (Mori et al. 2016). Another leucocytosis patient with mutations of the SETBP1 and ASXL1 genes progressed to blast crisis of Ph(-) CML accompanied by i(17)(q10). Chronic leucocytosis patients who had genetic alterations tended to develop haematological neoplasms, while thrombocytosis unexpectedly resolved in two persistent thrombocytosis patients with genetic alterations.
DOI 10.1007/s12041-021-01354-7
PMID 35129130