Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Triple-negative Thrombocythemia and Subsequent Acute Lymphoblastic Leukemia with Additional Somatic Mutations
Yuri TsuboiTatsuhiro SakamotoKenichi MakishimaYasuhito SueharaKeiichiro HattoriNaoki KuritaYasuhisa YokoyamaTakayasu KatoHidekazu NishikiiNaoshi ObaraFumiaki MatsumuraRyota MatsuokaShigeru ChibaMamiko Sakata-Yanagimoto
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Supplementary material

2023 Volume 62 Issue 10 Pages 1527-1530

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Abstract

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.

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© 2023 by The Japanese Society of Internal Medicine
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