• Internal medicine · May 2023

    Triple-negative Thrombocythemia and Subsequent Acute Lymphoblastic Leukemia with Additional Somatic Mutations.

    • Yuri Tsuboi, Tatsuhiro Sakamoto, Kenichi Makishima, Yasuhito Suehara, Keiichiro Hattori, Naoki Kurita, Yasuhisa Yokoyama, Takayasu Kato, Hidekazu Nishikii, Naoshi Obara, Fumiaki Matsumura, Ryota Matsuoka, Shigeru Chiba, and Mamiko Sakata-Yanagimoto.
    • Department of Hematology, University of Tsukuba Hospital, Japan.
    • Intern. Med. 2023 May 15; 62 (10): 152715301527-1530.

    AbstractTriple-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.

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