PMID- 34781094
OWN - NLM
STAT- MEDLINE
DCOM- 20220216
LR  - 20231213
IS  - 2210-7762 (Print)
VI  - 260-261
DP  - 2022 Jan
TI  - Utilizing next-generation sequencing to characterize a case of acute myeloid 
      leukemia with t(4;12)(q12;p13) in the absence of ETV6/CHIC2 and ETV6/PDGFRA gene 
      fusions.
PG  - 1-5
LID - S2210-7762(21)00221-0 [pii]
LID - 10.1016/j.cancergen.2021.11.002 [doi]
AB  - The t(4;12)(q12;p13) has been rarely reported in both myeloid/lymphoid neoplasms 
      with eosinophilia (ETV6/PDGFRA gene fusion) and acute myeloid leukemia (AML) 
      (ETV6/CHIC2 gene fusion). The ability to accurately characterize t(4;12) is 
      critical as myeloid neoplasms with PDGFRA rearrangements may be amenable to 
      tyrosine kinase inhibitor (TKI) therapy. Herein, we describe a 60-year-old male 
      with newly diagnosed AML and t(4;12)(q12;p13) by conventional chromosome studies. 
      While the ETV6 break-apart fluorescence in situ hybridization (FISH) probe set 
      demonstrated a balanced ETV6 gene rearrangement, the FIP1L1/CHIC2/PDGFRA 
      tri-color and PDGFRA break-apart FISH probe sets could not resolve the ETV6 gene 
      fusion partner. Mate-pair sequencing (MPseq), a next-generation sequencing assay, 
      was subsequently performed and identified an ETV6 gene rearrangement (at 12p13) 
      that involved an intergenic chromosomal region at 4q12, located between the CHIC2 
      and PDGFRA gene regions. Having excluded involvement by the PDGFRA gene region, 
      the patient will not be considered for TKI therapy at any point during his 
      medical management. The accurate characterization of structural rearrangements by 
      NGS-based technologies, as demonstrated in this case, highlights the clinical 
      relevance and potential impact on patient medical management of modern 
      cytogenetic techniques.
CI  - Copyright (c) 2021 Elsevier Inc. All rights reserved.
FAU - Koleilat, Alaa
AU  - Koleilat A
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, USA.
FAU - McGarrah, Patrick W
AU  - McGarrah PW
AD  - Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, 
      MN, USA.
FAU - Olteanu, Horatiu
AU  - Olteanu H
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, MN, USA.
FAU - Van Dyke, Daniel L
AU  - Van Dyke DL
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, MN, USA.
FAU - Smadbeck, James B
AU  - Smadbeck JB
AD  - Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, 
      MN, USA.
FAU - Johnson, Sarah H
AU  - Johnson SH
AD  - Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, 
      MN, USA.
FAU - Vasmatzis, George
AU  - Vasmatzis G
AD  - Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, 
      MN, USA.
FAU - Hoppman, Nicole L
AU  - Hoppman NL
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, USA.
FAU - Xu, Xinjie
AU  - Xu X
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, MN, USA.
FAU - Ketterling, Rhett P
AU  - Ketterling RP
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, MN, USA.
FAU - Greipp, Patricia T
AU  - Greipp PT
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, MN, USA.
FAU - Baughn, Linda B
AU  - Baughn LB
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, MN, USA.
FAU - Patnaik, Mrinal S
AU  - Patnaik MS
AD  - Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, 
      MN, USA.
FAU - Peterson, Jess F
AU  - Peterson JF
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, MN, USA. Electronic address: peterson.jess@mayo.edu.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20211106
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (CHIC2 protein, human)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proto-Oncogene Proteins c-ets)
RN  - 0 (Repressor Proteins)
RN  - 0 (Transcription Factors)
RN  - EC 2.7.10.1 (Receptor, Platelet-Derived Growth Factor alpha)
SB  - IM
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - DNA-Binding Proteins/genetics
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Proto-Oncogene Proteins c-ets/genetics
MH  - Receptor, Platelet-Derived Growth Factor alpha/genetics
MH  - Repressor Proteins/genetics
MH  - Sequence Analysis, DNA/*methods
MH  - Transcription Factors/genetics
MH  - Translocation, Genetic
MH  - ETS Translocation Variant 6 Protein
OTO - NOTNLM
OT  - Acute myeloid leukemia (AML)
OT  - CHIC2
OT  - ETV6
OT  - Mate-pair sequencing (MPseq)
OT  - PDGFRA
COIS- Declaration of Competing Interest AK, PWM, HO, DLV, JBS, SHJ, NLH, XX, RPK, PTG, 
      LBB, MSP, JFP: no financial disclosures. GV: Algorithms described in this 
      manuscript for mate-pair sequencing are licensed to WholeGenome LLC owned by GV.
EDAT- 2021/11/16 06:00
MHDA- 2022/02/17 06:00
CRDT- 2021/11/15 20:19
PHST- 2021/07/26 00:00 [received]
PHST- 2021/10/26 00:00 [revised]
PHST- 2021/11/03 00:00 [accepted]
PHST- 2021/11/16 06:00 [pubmed]
PHST- 2022/02/17 06:00 [medline]
PHST- 2021/11/15 20:19 [entrez]
AID - S2210-7762(21)00221-0 [pii]
AID - 10.1016/j.cancergen.2021.11.002 [doi]
PST - ppublish
SO  - Cancer Genet. 2022 Jan;260-261:1-5. doi: 10.1016/j.cancergen.2021.11.002. Epub 
      2021 Nov 6.