マーシヤル　シヨウコ   Māshiyaru Shiyouko   マーシャル　祥子    所属   医学部 医学科（附属足立医療センター）    職種   助教
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Genetic alterations in patients with chronic leucocytosis and persistent thrombocytosis.
掲載誌名	正式名：Journal of genetics 略　 称：J Genet ISSNコード：09737731/00221333
掲載区分	国外
巻・号・頁	101,pp.11
著者・共著者	Mori Naoki†*, Ohwashi-Miyazaki Mari, Yoshinaga Kentaro, Ogasawara Toshie, Marshall Shoko, Shiseki Masayuki, Sakura Hiroshi, Tanaka Junji
発行年月	2022
概要	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