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
Article
in English
| LILACS
| ID: biblio-994660
Responsible library:
BR26.7
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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Leukemia, Myeloid, Acute
/
Sequence Analysis, DNA
/
Polymorphism, Single Nucleotide
Type of study:
Diagnostic study
Limits:
Aged
/
Female
/
Humans
Language:
English
Journal:
Autops. Case Rep
Journal subject:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Year:
2019
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Federal University of São Paulo/BR
/
Fleury Group/BR