Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia.
Cryptic deletions are occasionally reported in hematologic malignancies. The SET-NUP214 fusion gene has been rarely reported in acute myeloid leukemia, acute undifferentiated leukemia, and recurrently in T-cell acute lymphoblastic leukemia. The fusion product is generated by a submicroscopic deletion in the vicinity of 9q34. Herein we present a novel case of acute undifferentiated leukemia with SET-NUP214 rearrangement due to the cryptic deletion of the 9q34 region producing two different types of fusion transcripts by alternative splicing and molecular characterization of the fusion transcripts by fluorescence in situ hybridization, reverse transcriptase-polymerase chain reaction, and array comparative genomic hybridization analyses.
Kim
Juwon
J
Department of Laboratory Medicine, Yonsei University College of Medicine, Seodaemun-gu, Seoul, Korea.
Lee
Sang-Guk
SG
Song
Jaewoo
J
Kim
Soo Jeong
SJ
Rha
Sun Young
SY
Lee
Kyung-A
KA
Park
Tae Sung
TS
Choi
Jong Rak
JR
D000208:Acute Disease; D000328:Adult; D055028:Comparative Genomic Hybridization; D005260:Female; D017353:Gene Deletion; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007938:Leukemia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D017423:Sequence Analysis, RNA; D014178:Translocation, Genetic
D015514:Oncogene Proteins, Fusion; C481746:SET-CAN fusion protein, human