• Je něco špatně v tomto záznamu ?

Identification of atypical ATRNL1 insertion to EML4-ALK fusion gene in NSCLC

B. Robesova, M. Bajerova, J. Hausnerova, J. Skrickova, M. Tomiskova, D. Dvorakova,

. 2015 ; 87 (3) : 318-20. [pub] 20150110

Jazyk angličtina Země Irsko

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc16000363

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.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc16000363
003      
CZ-PrNML
005      
20160126114253.0
007      
ta
008      
160108s2015 ie f 000 0|eng||
009      
AR
024    7_
$a 10.1016/j.lungcan.2015.01.002 $2 doi
035    __
$a (PubMed)25601488
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a ie
100    1_
$a Robesova, Blanka $u Department of Internal Medicine-Hematology and Oncology, Masaryk University and University Hospital Brno, Brno, Czech Republic. Electronic address: blanka.robesova@fnbrno.cz.
245    10
$a Identification of atypical ATRNL1 insertion to EML4-ALK fusion gene in NSCLC / $c B. Robesova, M. Bajerova, J. Hausnerova, J. Skrickova, M. Tomiskova, D. Dvorakova,
520    9_
$a 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.
650    _2
$a sekvence nukleotidů $7 D001483
650    _2
$a nemalobuněčný karcinom plic $x diagnóza $x farmakoterapie $x genetika $7 D002289
650    _2
$a lidé $7 D006801
650    _2
$a nádory plic $x diagnóza $x farmakoterapie $x genetika $7 D008175
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a lidé středního věku $7 D008875
650    _2
$a molekulární sekvence - údaje $7 D008969
650    12
$a inzerční mutageneze $7 D016254
650    _2
$a staging nádorů $7 D009367
650    _2
$a fúzní onkogenní proteiny $x chemie $x genetika $7 D015514
650    _2
$a inhibitory proteinkinas $x terapeutické užití $7 D047428
650    _2
$a pyrazoly $x terapeutické užití $7 D011720
650    _2
$a pyridiny $x terapeutické užití $7 D011725
650    _2
$a rentgendiagnostika hrudníku $7 D013902
650    _2
$a sekvenční analýza DNA $7 D017422
650    _2
$a výsledek terapie $7 D016896
655    _2
$a kazuistiky $7 D002363
655    _2
$a časopisecké články $7 D016428
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Bajerova, Monika $u Department of Internal Medicine-Hematology and Oncology, Masaryk University and University Hospital Brno, Brno, Czech Republic.
700    1_
$a Hausnerova, Jitka $u Department of Pathology, Masaryk University and University Hospital Brno, Brno, Czech Republic.
700    1_
$a Skrickova, Jana $u Department of Respiratory Diseases and Tuberculosis, Masaryk University and University Hospital Brno, Brno, Czech Republic.
700    1_
$a Tomiskova, Marcela $u Department of Respiratory Diseases and Tuberculosis, Masaryk University and University Hospital Brno, Brno, Czech Republic.
700    1_
$a Dvorakova, Dana $u Department of Internal Medicine-Hematology and Oncology, Masaryk University and University Hospital Brno, Brno, Czech Republic.
773    0_
$w MED00003160 $t Lung cancer (Amsterdam, Netherlands) $x 1872-8332 $g Roč. 87, č. 3 (2015), s. 318-20
856    41
$u https://pubmed.ncbi.nlm.nih.gov/25601488 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20160108 $b ABA008
991    __
$a 20160126114417 $b ABA008
999    __
$a ok $b bmc $g 1102644 $s 924569
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2015 $b 87 $c 3 $d 318-20 $e 20150110 $i 1872-8332 $m Lung cancer $n Lung Cancer $x MED00003160
LZP    __
$a Pubmed-20160108

Najít záznam

Citační ukazatele

Možnosti archivace