PMID- 29153093
OWN - NLM
STAT- MEDLINE
DCOM- 20171128
LR  - 20231213
IS  - 2210-7762 (Print)
VI  - 218-219
DP  - 2017 Dec
TI  - Next-generation sequencing and molecular cytogenetic characterization of ETV6-LYN 
      fusion due to chromosomes 1, 8 and 12 rearrangement in acute myeloid leukemia.
PG  - 15-19
LID - S2210-7762(17)30269-7 [pii]
LID - 10.1016/j.cancergen.2017.09.001 [doi]
AB  - In a newly diagnosed patient with acute myeloid leukemia (AML) and complex 
      cytogenetics and negative for gene mutations associated with myeloid neoplasms, 
      RNA sequencing by next-generation sequencing (NGS) through a large cancer-related 
      gene panel showed ETV6-LYN leukemic fusion transcript. Breakpoint analysis of the 
      NGS reads showed fusion of exon 5 of the ETV6 gene to exon 8 of the LYN gene. 
      Metaphase fluorescence in situ hybridization (FISH) inferred a four-break 
      rearrangement of three chromosomes, namely 1, 8 and 12. First, there was a 
      balanced translocation t(1;12)(p13;p13.2) in which the ETV6 was split between 
      der(1) and der(12). Second, an inverted insertion of 8q12.1~q24.21 into 1p13 
      occurred, thus bringing ETV6 and LYN into juxtaposition in the correct 5' to 3' 
      orientation to produce an in-frame chimeric fusion gene on der(1). 
      Notwithstanding two previous reports of ETV6-LYN fusion in myeloproliferative 
      neoplasms (MPN), we report the first case of this fusion in AML and hence broaden 
      its disease association. We also illustrate the clinical utility of NGS based 
      detection of gene fusion in the setting of complex karyotype or cryptic 
      aberration, since this method does not require a priori knowledge of the 
      translocation partner and exact breakpoints to guide the application of 
      appropriate primers or probes.
CI  - Copyright (c) 2017 The Authors. Published by Elsevier Inc. All rights reserved.
FAU - Ma, Edmond S K
AU  - Ma ESK
AD  - Division of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium & 
      Hospital, Hong Kong. Electronic address: eskma@hksh.com.
FAU - Wan, Thomas S K
AU  - Wan TSK
AD  - Blood Cancer Cytogenetics and Genomics Laboratory, Department of Anatomical & 
      Cellular Pathology, The Chinese University of Hong Kong, Prince of Wales 
      Hospital, Hong Kong.
FAU - Au, Chun Hang
AU  - Au CH
AD  - Division of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium & 
      Hospital, Hong Kong.
FAU - Ho, Dona N
AU  - Ho DN
AD  - Division of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium & 
      Hospital, Hong Kong.
FAU - Ma, Shing Yan
AU  - Ma SY
AD  - Specialist in Hematology & Hematological Oncology in private practice, Hong Kong.
FAU - Ng, Margaret H L
AU  - Ng MHL
AD  - Blood Cancer Cytogenetics and Genomics Laboratory, Department of Anatomical & 
      Cellular Pathology, The Chinese University of Hong Kong, Prince of Wales 
      Hospital, Hong Kong.
FAU - Chan, Tsun Leung
AU  - Chan TL
AD  - Division of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium & 
      Hospital, Hong Kong.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170913
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proto-Oncogene Proteins c-ets)
RN  - 0 (Repressor Proteins)
RN  - EC 2.7.10.2 (lyn protein-tyrosine kinase)
RN  - EC 2.7.10.2 (src-Family Kinases)
SB  - IM
MH  - Adult
MH  - Chromosome Aberrations
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - *Gene Rearrangement
MH  - High-Throughput Nucleotide Sequencing/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Myeloid, Acute/*genetics/pathology
MH  - Male
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Proto-Oncogene Proteins c-ets/*genetics
MH  - Repressor Proteins/*genetics
MH  - src-Family Kinases/*genetics
MH  - ETS Translocation Variant 6 Protein
OTO - NOTNLM
OT  - Acute myeloid leukemia
OT  - ETV6-LYN
OT  - cytogenetics
OT  - fluorescence in situ hybridization
OT  - gene fusion
OT  - next-generation sequencing
EDAT- 2017/11/21 06:00
MHDA- 2017/11/29 06:00
CRDT- 2017/11/21 06:00
PHST- 2017/06/11 00:00 [received]
PHST- 2017/09/01 00:00 [revised]
PHST- 2017/09/06 00:00 [accepted]
PHST- 2017/11/21 06:00 [entrez]
PHST- 2017/11/21 06:00 [pubmed]
PHST- 2017/11/29 06:00 [medline]
AID - S2210-7762(17)30269-7 [pii]
AID - 10.1016/j.cancergen.2017.09.001 [doi]
PST - ppublish
SO  - Cancer Genet. 2017 Dec;218-219:15-19. doi: 10.1016/j.cancergen.2017.09.001. Epub 
      2017 Sep 13.