TY - JOUR
T1 - A Case of Acute Myeloid Leukemia with Myelodysplasia-Related Changes, SET-NUP214 Fusion, and Complex Karyotype
AU - Chang, Soon Hee
N1 - Publisher Copyright:
© 2022 Verlag Klinisches Labor GmbH. All rights reserved.
PY - 2022/12
Y1 - 2022/12
N2 - Background: The SET-NUP214 fusion formed by cryptic t(9;9)(q34;q34) or del(9)(q34.11q34.13) is a rare gene rearrangement. This rearrangement has been reported mostly in T-cell acute lymphoblastic leukemia, but only rarely in acute myeloid leukemia (AML). The acute leukemia cases with the SET-NUP214 fusion gene show typical immunophenotype, karyotype, and poor treatment response. However, the cytogenetic or genetic changes in AML with SET-NUP214 fusion are not well understood. Methods: The diagnosis was made based on a combination of the morphology, immunophenotyping, multiplex reverse transcriptase-polymerase chain reaction, FISH, karyotype, Sanger sequencing, next-generation sequencing, and microarray analysis. Results: The author reports a rare case of AML with myelodysplasia-related changes, SET-NUP214 fusion gene, and complex karyotype that was resistant to induction chemotherapy, making diagnosis and treatment difficult. Conclusions: Further studies, including cytogenetic and molecular analyses, are needed to determine the pathophysiology and clinical significance for this rare gene rearrangement.
AB - Background: The SET-NUP214 fusion formed by cryptic t(9;9)(q34;q34) or del(9)(q34.11q34.13) is a rare gene rearrangement. This rearrangement has been reported mostly in T-cell acute lymphoblastic leukemia, but only rarely in acute myeloid leukemia (AML). The acute leukemia cases with the SET-NUP214 fusion gene show typical immunophenotype, karyotype, and poor treatment response. However, the cytogenetic or genetic changes in AML with SET-NUP214 fusion are not well understood. Methods: The diagnosis was made based on a combination of the morphology, immunophenotyping, multiplex reverse transcriptase-polymerase chain reaction, FISH, karyotype, Sanger sequencing, next-generation sequencing, and microarray analysis. Results: The author reports a rare case of AML with myelodysplasia-related changes, SET-NUP214 fusion gene, and complex karyotype that was resistant to induction chemotherapy, making diagnosis and treatment difficult. Conclusions: Further studies, including cytogenetic and molecular analyses, are needed to determine the pathophysiology and clinical significance for this rare gene rearrangement.
KW - acute myeloid leukemia with myelodysplasia-related changes
KW - complex karyotype
KW - SET-NUP214 fusion
UR - http://www.scopus.com/inward/record.url?scp=85144592857&partnerID=8YFLogxK
U2 - 10.7754/Clin.Lab.2022.220313
DO - 10.7754/Clin.Lab.2022.220313
M3 - Article
C2 - 36546746
AN - SCOPUS:85144592857
SN - 1433-6510
VL - 68
SP - 2569
EP - 2574
JO - Clinical Laboratory
JF - Clinical Laboratory
IS - 12
ER -