PMID- 37478796
OWN - NLM
STAT- MEDLINE
DCOM- 20230814
LR  - 20230823
IS  - 2210-7762 (Print)
VI  - 276-277
DP  - 2023 Aug
TI  - Cryptic KMT2A/MLLT10 fusion detected by next-generation sequencing in a case of 
      pediatric acute megakaryoblastic leukemia.
PG  - 36-39
LID - S2210-7762(23)00038-8 [pii]
LID - 10.1016/j.cancergen.2023.07.003 [doi]
AB  - KMT2A (11q23.3) gene rearrangements are found in acute leukemia and are 
      associated with a poor or intermediate prognosis. MLLT10 is the fourth most 
      common gene fusion partner for KMT2A. A reciprocal translocation t(10;11) is 
      insufficient to produce an in-frame KMT2A/MLLT10 fusion, because the genes 
      involved in the rearrangement have opposite transcriptional orientations. In 
      order to bring KMT2A and MLLT10 into juxtaposition, complex rearrangements are 
      required. Until now, conventional chromosome, fluorescence in situ hybridization 
      (FISH), and reverse transcriptase-polymerase chain reaction (RT-PCR) studies have 
      been used to detect KMT2A/MLLT10 fusions. However, conventional studies have 
      limitations, such as poor and inconsistent resolution, when compared to 
      next-generation sequencing (NGS). In this study, we report a pediatric patient 
      with acute megakaryoblastic leukemia, in whom the cryptic KMT2A/MLLT10 fusion was 
      not detected by KMT2A break-apart probe FISH and chromosome analysis, but 
      detected by NGS. In this patient, NGS showed cryptic insertion of MLLT10 exons 
      9-24 into intron 9 of KMT2A, resulting in a KMT2A/MLLT10 fusion. Therefore, NGS 
      is a valuable complementary option for the evaluation of structural aberrations, 
      especially those with a cryptic size.
CI  - Copyright (c) 2023. Published by Elsevier Inc.
FAU - Kim, Yeseul
AU  - Kim Y
AD  - Department of Laboratory Medicine, Seoul National University Hospital, 101, 
      Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea.
FAU - Kim, Boram
AU  - Kim B
AD  - Department of Laboratory Medicine, Seoul National University Hospital, 101, 
      Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea.
FAU - Seong, Moon-Woo
AU  - Seong MW
AD  - Department of Laboratory Medicine, Seoul National University Hospital, 101, 
      Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea; Department of Laboratory 
      Medicine, Seoul National University College of Medicine, Seoul, Republic of 
      Korea; Seoul National University Cancer Research Institute, Seoul, Republic of 
      Korea.
FAU - Lee, Dong Soon
AU  - Lee DS
AD  - Department of Laboratory Medicine, Seoul National University Hospital, 101, 
      Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea; Department of Laboratory 
      Medicine, Seoul National University College of Medicine, Seoul, Republic of 
      Korea; Seoul National University Cancer Research Institute, Seoul, Republic of 
      Korea.
FAU - Hong, Kyung Taek
AU  - Hong KT
AD  - Seoul National University Cancer Research Institute, Seoul, Republic of Korea; 
      Department of Pediatrics, Seoul National University Children's Hospital, Seoul, 
      Republic of Korea; Department of Pediatrics, Seoul National University College of 
      Medicine, Seoul, Republic of Korea.
FAU - Kang, Hyoung Jin
AU  - Kang HJ
AD  - Seoul National University Cancer Research Institute, Seoul, Republic of Korea; 
      Department of Pediatrics, Seoul National University Children's Hospital, Seoul, 
      Republic of Korea; Department of Pediatrics, Seoul National University College of 
      Medicine, Seoul, Republic of Korea.
FAU - Yun, Jiwon
AU  - Yun J
AD  - Department of Laboratory Medicine, Seoul National University Hospital, 101, 
      Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea; Department of Laboratory 
      Medicine, Chung-Ang University Hospital, 102, Heukseok-ro, Dongjak-gu, Seoul 
      06973, Republic of Korea. Electronic address: drjwyun@cauhs.or.kr.
FAU - Chang, Yoon Hwan
AU  - Chang YH
AD  - Department of Laboratory Medicine, Seoul National University Hospital, 101, 
      Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea; Department of Laboratory 
      Medicine, Seoul National University College of Medicine, Seoul, Republic of 
      Korea. Electronic address: cyh1969@snu.ac.kr.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20230711
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Transcription Factors)
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (MLLT10 protein, human)
SB  - IM
MH  - Child
MH  - Humans
MH  - *Leukemia, Megakaryoblastic, Acute/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Transcription Factors/genetics
MH  - Myeloid-Lymphoid Leukemia Protein/genetics
MH  - *Leukemia, Myeloid, Acute/genetics
MH  - Translocation, Genetic
MH  - High-Throughput Nucleotide Sequencing
MH  - Oncogene Proteins, Fusion/genetics
OTO - NOTNLM
OT  - Acute megakaryoblastic leukemia
OT  - KMT2A/MLLT10 fusion
OT  - Next-generation sequencing
OT  - Pediatric AML
COIS- Declaration of Competing Interest The authors declare no competing interests.
EDAT- 2023/07/22 10:42
MHDA- 2023/08/14 06:41
CRDT- 2023/07/21 18:10
PHST- 2022/12/31 00:00 [received]
PHST- 2023/06/09 00:00 [revised]
PHST- 2023/07/08 00:00 [accepted]
PHST- 2023/08/14 06:41 [medline]
PHST- 2023/07/22 10:42 [pubmed]
PHST- 2023/07/21 18:10 [entrez]
AID - S2210-7762(23)00038-8 [pii]
AID - 10.1016/j.cancergen.2023.07.003 [doi]
PST - ppublish
SO  - Cancer Genet. 2023 Aug;276-277:36-39. doi: 10.1016/j.cancergen.2023.07.003. Epub 
      2023 Jul 11.