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Tsuboi, Yuri; Sakamoto, Tatsuhiro; Makishima, Kenichi; Suehara, Yasuhito; Hattori, Keiichiro; Kurita, Naoki; Yokoyama, Yasuhisa; Kato, Takayasu; Nishikii, Hidekazu; Obara, Naoshi; Matsumura, Fumiaki; Matsuoka, Ryota; Chiba, Shigeru; Sakata-Yanagimoto, Mamiko
Internal Medicine, 2023-May-15, Letnik: 62, Številka: 10Journal Article
Triple-negative essential thrombocythemia (ET) is a condition in which mutations in JAK2, CALR and MPL are all negative. Transformation to acute myeloid leukemia may occur during the course of ET, while B-acute lymphoblastic leukemia B-(ALL) is rare. We experienced a case diagnosed as B-ALL during the course of triple-negative ET. Notably, cytoreduction was required for the excessive increase in blood cells during the bone marrow recovery period after chemotherapies. Whole exome sequencing identified 17 somatic mutations: 9 were identified in both ET and B-ALL samples, while 8 were specific to B-ALL, suggesting that these 8 might have caused the transformation.
