JAK2-mutated acute myeloid leukemia: comparison of next-generation sequencing (NGS) and single nucleotide polymorphism array (SNPa) findings between two cases
Autops. Case Rep
;
9(2): e2018084, Abr.-Jun. 2019. ilus, tab
Artigo
em Inglês
| LILACS
| ID: biblio-994660
ABSTRACT
JAK2 mutations are rare in de novo acute myeloid leukemia (AML), and JAK2-mutated acute myeloid leukemia (AML) patients usually have a previous history of myeloproliferative neoplasms (MPNs). Current advances in laboratory techniques, such as single nucleotide polymorphism array (SNPa) and next-generation sequencing (NGS), have facilitated new insight into the molecular basis of hematologic diseases. Herein, we present two cases of JAK2-mutated AML in which both SNPa and NGS methods added valuable information. Both cases had leukemogenic collaboration, namely, copy-neutral loss of heterozygosity (CN-LOH), detected on chromosome 9. One of the cases exhibited both JAK2 and IDH2 mutations, most likely having originated as an MPN with leukemic transformation, while the other case was classified as a de novo AML with JAK2, CEBPA, and FLT3 mutations.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Leucemia Mieloide Aguda
/
Análise de Sequência de DNA
/
Polimorfismo de Nucleotídeo Único
Tipo de estudo:
Estudo diagnóstico
Limite:
Idoso
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Autops. Case Rep
Assunto da revista:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Ano de publicação:
2019
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Federal University of São Paulo/BR
/
Fleury Group/BR
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