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

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 t...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258111/
https://www.ncbi.nlm.nih.gov/pubmed/36104197
http://dx.doi.org/10.2169/internalmedicine.0269-22
Descripción
Sumario: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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