View : 35 Download: 0

KMT2A (MLL)-MLLT1 rearrangement in blastic plasmacytoid dendritic cell neoplasm

Title
KMT2A (MLL)-MLLT1 rearrangement in blastic plasmacytoid dendritic cell neoplasm
Authors
Yang, NaeryHuh, JungwonChung, Wha SoonCho, Min-SunRyu, Kyung-HaChung, Hae-Sun
Ewha Authors
정화순유경하허정원조민선정혜선
SCOPUS Author ID
정화순scopus; 유경하scopus; 허정원scopus; 조민선scopus; 정혜선scopus
Issue Date
2015
Journal Title
CANCER GENETICS
ISSN
2210-7762JCR Link2210-7770JCR Link
Citation
vol. 208, no. 9, pp. 464 - 467
Keywords
Blastic plasmacytoid dendritic cell neoplasmKMT2A (MLL)MLLT1t(11;19)
Publisher
ELSEVIER SCIENCE INC
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy characterized by CD4 and CD56 coexpression without apparent lineage commitment. The molecular pathogenesis of BPDCN has been studied in only a limited number of cases, and specific chromosomal aberrations are lacking thus far. KMT2A (MLL) rearrangements are observed in various types of pediatric and adult leukemia, but only one adult case report has so far showed KMT2A (MLL)-MLLT1 gene rearrangements in BPDCN. We present the first pediatric case of BPDCN with a KMT2A (MLL)-MLLT1 rearrangement confirmed by molecular study. The karyotype demonstrated a t(11;19)(q23;p13.3), trisomy 8, and trisomy 19 in all 20 metaphase cells analyzed: 48,XX,+8,t(11;19)(q23;p13.3),+19[20]. Fluorescence in situ hybridization analysis showed KMT2A (MLL) gene rearrangement in 83% of interphase cells. The KMT2A (MLL)-MLLT1 gene rearrangement was confirmed by multiplex reverse transcriptase polymerase chain reaction. We suggest that the pathogenesis of BPDCN could be associated with KMT2A (MLL) rearrangement (especially with KMT2A (MLL)-MLLT1) and further study on a larger number of cases is needed.
DOI
10.1016/j.cancergen.2015.04.011
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE