Next‐generation sequencing in two cases of de novo acute basophilic leukaemia

Autor: Masakatsu Hishizawa, Seishi Ogawa, Toshio Kitawaki, Yasuhito Nannya, Takuya Shimizu, Takero Shindo, Mizuki Watanabe, Kouhei Yamashita, Akifumi Takaori-Kondo, Tadakazu Kondo
Jazyk: angličtina
Rok vydání: 2021
Předmět:
0301 basic medicine
Male
acute basophilic leukaemia
NPM1
Short Communication
Acute basophilic leukemia
CD33
Interleukin-3 Receptor alpha Subunit
Short Communications
next‐generation sequencing
chemical and pharmacologic phenomena
Antigens
CD34
Biology
Flow cytometry
Dioxygenases
Loss of heterozygosity
03 medical and health sciences
0302 clinical medicine
hemic and lymphatic diseases
medicine
Humans
gemtuzumab ozogamicin
neoplasms
Aged
ABL
medicine.diagnostic_test
High-Throughput Nucleotide Sequencing
hemic and immune systems
Cell Biology
Sequence Analysis
DNA
Middle Aged
medicine.disease
Molecular biology
Basophils
Basophilic
DNA-Binding Proteins
Proto-Oncogene Proteins c-kit
030104 developmental biology
Leukemia
Basophilic
Acute
030220 oncology & carcinogenesis
Mutation
Molecular Medicine
next-generation sequencing
Interleukin-3 receptor
Tumor Suppressor Protein p53
Nucleophosmin
Zdroj: Journal of Cellular and Molecular Medicine
ISSN: 1582-1838
Popis: Acute basophilic leukaemia (ABL) is a rare subtype of acute myeloid leukaemia (AML); therefore, few data are available about its biology. Herein, we analysed two ABL patients using flow cytometry and next-generation sequencing (NGS). Two cell populations were detected by flow cytometry in both patients. In Case no. 1, blasts (CD34+ , CD203c- , CD117+ , CD123dim+ ) and basophils (CD34- , CD203c+ , CD117± , CD123+ ) were identified, both of which were found by NGS to harbour the 17p deletion and have loss of heterozygosity of TP53. In Case no. 2, blasts (CD33+ , CD34+ , CD123- ) and basophils (CD33+ , CD34+ , CD123+ ) were identified. NGS detected NPM1 mutations in either blasts or basophils, and TET2 in both. These data suggest an overlap of the mutational landscape of ABL and AML, including TP53 and TET2 mutations. Moreover, additional mutations or epigenetic factors may contribute for the differentiation into basophilic blasts.
Databáze: OpenAIRE
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