PMID- 25601488
OWN - NLM
STAT- MEDLINE
DCOM- 20151116
LR  - 20181202
IS  - 1872-8332 (Electronic)
IS  - 0169-5002 (Linking)
VI  - 87
IP  - 3
DP  - 2015 Mar
TI  - Identification of atypical ATRNL1 insertion to EML4-ALK fusion gene in NSCLC.
PG  - 318-20
LID - S0169-5002(15)00003-3 [pii]
LID - 10.1016/j.lungcan.2015.01.002 [doi]
AB  - We herein present a rare case of an EML4-ALK positive patient. A 61-year-old man 
      was diagnosed with locoregional non-small cell lung cancer (NSCLC). No EGFR 
      mutations were detected, and therefore the ALK rearrangement was evaluated using 
      immunohistochemistry (IHC), fluorescence in situ hybridization (FISH) and the 
      reverse transcription PCR (RT-PCR) method for EML4-ALK. All methods showed a 
      positive result and, therefore, the patient was treated with crizotinib with a 
      good therapeutic response. However, a detailed RT-PCR analysis and sequencing 
      revealed an unexpected 138 bp insertion of attractin-like 1 (ATRNL1) gene into 
      the EML4-ALK fusion gene. In our case, the positive therapeutic response suggests 
      that ATRNL1 insertion does not affect EML4-ALK's sensitivity to crizotinib. This 
      case shows great EML4-ALK heterogeneity and also that basic detection methods 
      (IHC, FISH) cannot fully specify ALK rearrangement but in many cases a full 
      specification seems to be important for an effective TKI indication, and 
      sequencing ALK variants might contribute to optimized patient selection.
CI  - Copyright (c) 2015 Elsevier Ireland Ltd. All rights reserved.
FAU - Robesova, Blanka
AU  - Robesova B
AD  - Department of Internal Medicine-Hematology and Oncology, Masaryk University and 
      University Hospital Brno, Brno, Czech Republic. Electronic address: 
      blanka.robesova@fnbrno.cz.
FAU - Bajerova, Monika
AU  - Bajerova M
AD  - Department of Internal Medicine-Hematology and Oncology, Masaryk University and 
      University Hospital Brno, Brno, Czech Republic.
FAU - Hausnerova, Jitka
AU  - Hausnerova J
AD  - Department of Pathology, Masaryk University and University Hospital Brno, Brno, 
      Czech Republic.
FAU - Skrickova, Jana
AU  - Skrickova J
AD  - Department of Respiratory Diseases and Tuberculosis, Masaryk University and 
      University Hospital Brno, Brno, Czech Republic.
FAU - Tomiskova, Marcela
AU  - Tomiskova M
AD  - Department of Respiratory Diseases and Tuberculosis, Masaryk University and 
      University Hospital Brno, Brno, Czech Republic.
FAU - Dvorakova, Dana
AU  - Dvorakova D
AD  - Department of Internal Medicine-Hematology and Oncology, Masaryk University and 
      University Hospital Brno, Brno, Czech Republic.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150110
PL  - Ireland
TA  - Lung Cancer
JT  - Lung cancer (Amsterdam, Netherlands)
JID - 8800805
RN  - 0 (EML4-ALK fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Protein Kinase Inhibitors)
RN  - 0 (Pyrazoles)
RN  - 0 (Pyridines)
RN  - 53AH36668S (Crizotinib)
SB  - IM
MH  - Base Sequence
MH  - Carcinoma, Non-Small-Cell Lung/diagnosis/drug therapy/*genetics
MH  - Crizotinib
MH  - Humans
MH  - Lung Neoplasms/diagnosis/drug therapy/*genetics
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - *Mutagenesis, Insertional
MH  - Neoplasm Staging
MH  - Oncogene Proteins, Fusion/chemistry/*genetics
MH  - Protein Kinase Inhibitors/therapeutic use
MH  - Pyrazoles/therapeutic use
MH  - Pyridines/therapeutic use
MH  - Radiography, Thoracic
MH  - Sequence Analysis, DNA
MH  - Treatment Outcome
OTO - NOTNLM
OT  - ATRNL1
OT  - Crizotinib
OT  - EML4-ALK
OT  - Lung cancer
OT  - NSCLC
OT  - Targeted therapy
EDAT- 2015/01/21 06:00
MHDA- 2015/11/17 06:00
CRDT- 2015/01/21 06:00
PHST- 2014/11/28 00:00 [received]
PHST- 2014/12/31 00:00 [revised]
PHST- 2015/01/02 00:00 [accepted]
PHST- 2015/01/21 06:00 [entrez]
PHST- 2015/01/21 06:00 [pubmed]
PHST- 2015/11/17 06:00 [medline]
AID - S0169-5002(15)00003-3 [pii]
AID - 10.1016/j.lungcan.2015.01.002 [doi]
PST - ppublish
SO  - Lung Cancer. 2015 Mar;87(3):318-20. doi: 10.1016/j.lungcan.2015.01.002. Epub 2015 
      Jan 10.