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

J 2015

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

ROBESOVA, Blanka, Monika BAJEROVA, Jitka HAUSNEROVÁ, Jana SKŘIČKOVÁ, Marcela TOMÍŠKOVÁ et. al.

Základní údaje

Originální název

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

Autoři

ROBESOVA, Blanka (203 Česká republika), Monika BAJEROVA (203 Česká republika), Jitka HAUSNEROVÁ (203 Česká republika, domácí), Jana SKŘIČKOVÁ (203 Česká republika, garant, domácí), Marcela TOMÍŠKOVÁ (203 Česká republika, domácí) a Dana DVOŘÁKOVÁ (203 Česká republika, domácí)

Vydání

Lung Cancer, Clare, Elsevier Ireland, 2015, 0169-5002

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30200 3.2 Clinical medicine

Stát vydavatele

Irsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 3.767

Kód RIV

RIV/00216224:14110/15:00083615

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.lungcan.2015.01.002

UT WoS

000350941900016

Klíčová slova anglicky

Lung cancer; Targeted therapy; NSCLC; EML4-ALK; ATRNL1; Crizotinib

Štítky

EL OK

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 25. 8. 2015 14:13, Jana Dvořáková

Anotace

V originále

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.

Citovat

ROBESOVA, Blanka, Monika BAJEROVA, Jitka HAUSNEROVÁ, Jana SKŘIČKOVÁ, Marcela TOMÍŠKOVÁ a Dana DVOŘÁKOVÁ. Identification of atypical ATRNL1 insertion to EML4-ALK fusion gene in NSCLC. Lung Cancer. Clare: Elsevier Ireland, 2015, roč. 87, č. 3, s. 318-320. ISSN 0169-5002. Dostupné z: https://dx.doi.org/10.1016/j.lungcan.2015.01.002.

@article{1309121,
   author = {Robesova, Blanka and Bajerova, Monika and Hausnerová, Jitka and Skřičková, Jana and Tomíšková, Marcela and Dvořáková, Dana},
   article_location = {Clare},
   article_number = {3},
   doi = {http://dx.doi.org/10.1016/j.lungcan.2015.01.002},
   keywords = {Lung cancer; Targeted therapy; NSCLC; EML4-ALK; ATRNL1; Crizotinib},
   language = {eng},
   issn = {0169-5002},
   journal = {Lung Cancer},
   title = {Identification of atypical ATRNL1 insertion to EML4-ALK fusion gene in NSCLC},
   volume = {87},
   year = {2015}
}

TY  - JOUR
ID  - 1309121
AU  - Robesova, Blanka - Bajerova, Monika - Hausnerová, Jitka - Skřičková, Jana - Tomíšková, Marcela - Dvořáková, Dana
PY  - 2015
TI  - Identification of atypical ATRNL1 insertion to EML4-ALK fusion gene in NSCLC
JF  - Lung Cancer
VL  - 87
IS  - 3
SP  - 318-320
EP  - 318-320
PB  - Elsevier Ireland
SN  - 01695002
KW  - Lung cancer
KW  - Targeted therapy
KW  - NSCLC
KW  - EML4-ALK
KW  - ATRNL1
KW  - Crizotinib
N2  - 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.
ER  -

ROBESOVA, Blanka, Monika BAJEROVA, Jitka HAUSNEROVÁ, Jana SKŘIČKOVÁ, Marcela TOMÍŠKOVÁ a Dana DVOŘÁKOVÁ. Identification of atypical ATRNL1 insertion to EML4-ALK fusion gene in NSCLC. \textit{Lung Cancer}. Clare: Elsevier Ireland, 2015, roč.~87, č.~3, s.~318-320. ISSN~0169-5002. Dostupné z: https://dx.doi.org/10.1016/j.lungcan.2015.01.002.

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