KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome

Background Tumor genotype plays a crucial role in clinical management of GIST. Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a t...
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Autor*in:	Brahmi, Mehdi [verfasserIn] Alberti, Laurent Dufresne, Armelle Ray-Coquard, Isabelle Cassier, Philippe Meeus, Pierre Decouvelaere, Anne-Valérie Ranchère-Vince, Dominique Blay, Jean-Yves

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2015

Schlagwörter:	GIST KIT Single nucleotide polymorphism Prognostic factor

Anmerkung:	© Brahmi et al. 2015

Übergeordnetes Werk:	Enthalten in: BMC cancer - London : BioMed Central, 2001, 15(2015), 1 vom: 24. Okt.
Übergeordnetes Werk:	volume:15 ; year:2015 ; number:1 ; day:24 ; month:10

Links:	Volltext

DOI / URN:	10.1186/s12885-015-1817-5

Katalog-ID:	SPR027670201

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520			\|a Background Tumor genotype plays a crucial role in clinical management of GIST. Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a transfected cell line (3 T3 L541) and in two retrospectively collected series of 109 GIST patients in total. The control group consisted of 60 healthy donors collected at the French department of blood transfusion. Results In the 3 T3 L541 cell line, $ KIT^{L541} $ protein exhibited a spontaneous phosphorylation status comparable to that of wild-type KIT but displayed a phosphorylation pattern of AKT and ERK1/2 that was found similar to that of the classical mutated forms of the KIT receptor. Of 109 patients enrolled in this retrospective translational research study, 24 (22 %) harboured KITL541, similarly to the control group of healthy donors (n = 10 of 60, 17 %). A higher prevalence of the variant KITL541 was observed in patients with metastatic status at diagnosis (KITL541 correlated nine of 22 versus 15 of 87, p = 0.02). In addition, patients with KITL541 and localized GIST had a higher rate of relapse at 5 years and lower relapse free survival at 5 years in univariate, as well as in multivariate analysis. Response rate and duration of response to imatinib was similar in KITL541 and KITM541 patients. Conclusion KITL541 genotype is associated with a higher risk of metastasis at diagnosis and a higher risk of relapse in GIST patients.
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allfields	10.1186/s12885-015-1817-5 doi (DE-627)SPR027670201 (SPR)s12885-015-1817-5-e DE-627 ger DE-627 rakwb eng Brahmi, Mehdi verfasserin aut KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Brahmi et al. 2015 Background Tumor genotype plays a crucial role in clinical management of GIST. Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a transfected cell line (3 T3 L541) and in two retrospectively collected series of 109 GIST patients in total. The control group consisted of 60 healthy donors collected at the French department of blood transfusion. Results In the 3 T3 L541 cell line, $ KIT^{L541} $ protein exhibited a spontaneous phosphorylation status comparable to that of wild-type KIT but displayed a phosphorylation pattern of AKT and ERK1/2 that was found similar to that of the classical mutated forms of the KIT receptor. Of 109 patients enrolled in this retrospective translational research study, 24 (22 %) harboured KITL541, similarly to the control group of healthy donors (n = 10 of 60, 17 %). A higher prevalence of the variant KITL541 was observed in patients with metastatic status at diagnosis (KITL541 correlated nine of 22 versus 15 of 87, p = 0.02). In addition, patients with KITL541 and localized GIST had a higher rate of relapse at 5 years and lower relapse free survival at 5 years in univariate, as well as in multivariate analysis. Response rate and duration of response to imatinib was similar in KITL541 and KITM541 patients. Conclusion KITL541 genotype is associated with a higher risk of metastasis at diagnosis and a higher risk of relapse in GIST patients. GIST (dpeaa)DE-He213 KIT (dpeaa)DE-He213 Single nucleotide polymorphism (dpeaa)DE-He213 Prognostic factor (dpeaa)DE-He213 Alberti, Laurent aut Dufresne, Armelle aut Ray-Coquard, Isabelle aut Cassier, Philippe aut Meeus, Pierre aut Decouvelaere, Anne-Valérie aut Ranchère-Vince, Dominique aut Blay, Jean-Yves aut Enthalten in BMC cancer London : BioMed Central, 2001 15(2015), 1 vom: 24. Okt. (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:15 year:2015 number:1 day:24 month:10 https://dx.doi.org/10.1186/s12885-015-1817-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2015 1 24 10
spelling	10.1186/s12885-015-1817-5 doi (DE-627)SPR027670201 (SPR)s12885-015-1817-5-e DE-627 ger DE-627 rakwb eng Brahmi, Mehdi verfasserin aut KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Brahmi et al. 2015 Background Tumor genotype plays a crucial role in clinical management of GIST. Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a transfected cell line (3 T3 L541) and in two retrospectively collected series of 109 GIST patients in total. The control group consisted of 60 healthy donors collected at the French department of blood transfusion. Results In the 3 T3 L541 cell line, $ KIT^{L541} $ protein exhibited a spontaneous phosphorylation status comparable to that of wild-type KIT but displayed a phosphorylation pattern of AKT and ERK1/2 that was found similar to that of the classical mutated forms of the KIT receptor. Of 109 patients enrolled in this retrospective translational research study, 24 (22 %) harboured KITL541, similarly to the control group of healthy donors (n = 10 of 60, 17 %). A higher prevalence of the variant KITL541 was observed in patients with metastatic status at diagnosis (KITL541 correlated nine of 22 versus 15 of 87, p = 0.02). In addition, patients with KITL541 and localized GIST had a higher rate of relapse at 5 years and lower relapse free survival at 5 years in univariate, as well as in multivariate analysis. Response rate and duration of response to imatinib was similar in KITL541 and KITM541 patients. Conclusion KITL541 genotype is associated with a higher risk of metastasis at diagnosis and a higher risk of relapse in GIST patients. GIST (dpeaa)DE-He213 KIT (dpeaa)DE-He213 Single nucleotide polymorphism (dpeaa)DE-He213 Prognostic factor (dpeaa)DE-He213 Alberti, Laurent aut Dufresne, Armelle aut Ray-Coquard, Isabelle aut Cassier, Philippe aut Meeus, Pierre aut Decouvelaere, Anne-Valérie aut Ranchère-Vince, Dominique aut Blay, Jean-Yves aut Enthalten in BMC cancer London : BioMed Central, 2001 15(2015), 1 vom: 24. Okt. (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:15 year:2015 number:1 day:24 month:10 https://dx.doi.org/10.1186/s12885-015-1817-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2015 1 24 10
allfields_unstemmed	10.1186/s12885-015-1817-5 doi (DE-627)SPR027670201 (SPR)s12885-015-1817-5-e DE-627 ger DE-627 rakwb eng Brahmi, Mehdi verfasserin aut KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Brahmi et al. 2015 Background Tumor genotype plays a crucial role in clinical management of GIST. Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a transfected cell line (3 T3 L541) and in two retrospectively collected series of 109 GIST patients in total. The control group consisted of 60 healthy donors collected at the French department of blood transfusion. Results In the 3 T3 L541 cell line, $ KIT^{L541} $ protein exhibited a spontaneous phosphorylation status comparable to that of wild-type KIT but displayed a phosphorylation pattern of AKT and ERK1/2 that was found similar to that of the classical mutated forms of the KIT receptor. Of 109 patients enrolled in this retrospective translational research study, 24 (22 %) harboured KITL541, similarly to the control group of healthy donors (n = 10 of 60, 17 %). A higher prevalence of the variant KITL541 was observed in patients with metastatic status at diagnosis (KITL541 correlated nine of 22 versus 15 of 87, p = 0.02). In addition, patients with KITL541 and localized GIST had a higher rate of relapse at 5 years and lower relapse free survival at 5 years in univariate, as well as in multivariate analysis. Response rate and duration of response to imatinib was similar in KITL541 and KITM541 patients. Conclusion KITL541 genotype is associated with a higher risk of metastasis at diagnosis and a higher risk of relapse in GIST patients. GIST (dpeaa)DE-He213 KIT (dpeaa)DE-He213 Single nucleotide polymorphism (dpeaa)DE-He213 Prognostic factor (dpeaa)DE-He213 Alberti, Laurent aut Dufresne, Armelle aut Ray-Coquard, Isabelle aut Cassier, Philippe aut Meeus, Pierre aut Decouvelaere, Anne-Valérie aut Ranchère-Vince, Dominique aut Blay, Jean-Yves aut Enthalten in BMC cancer London : BioMed Central, 2001 15(2015), 1 vom: 24. Okt. (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:15 year:2015 number:1 day:24 month:10 https://dx.doi.org/10.1186/s12885-015-1817-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2015 1 24 10
allfieldsGer	10.1186/s12885-015-1817-5 doi (DE-627)SPR027670201 (SPR)s12885-015-1817-5-e DE-627 ger DE-627 rakwb eng Brahmi, Mehdi verfasserin aut KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Brahmi et al. 2015 Background Tumor genotype plays a crucial role in clinical management of GIST. Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a transfected cell line (3 T3 L541) and in two retrospectively collected series of 109 GIST patients in total. The control group consisted of 60 healthy donors collected at the French department of blood transfusion. Results In the 3 T3 L541 cell line, $ KIT^{L541} $ protein exhibited a spontaneous phosphorylation status comparable to that of wild-type KIT but displayed a phosphorylation pattern of AKT and ERK1/2 that was found similar to that of the classical mutated forms of the KIT receptor. Of 109 patients enrolled in this retrospective translational research study, 24 (22 %) harboured KITL541, similarly to the control group of healthy donors (n = 10 of 60, 17 %). A higher prevalence of the variant KITL541 was observed in patients with metastatic status at diagnosis (KITL541 correlated nine of 22 versus 15 of 87, p = 0.02). In addition, patients with KITL541 and localized GIST had a higher rate of relapse at 5 years and lower relapse free survival at 5 years in univariate, as well as in multivariate analysis. Response rate and duration of response to imatinib was similar in KITL541 and KITM541 patients. Conclusion KITL541 genotype is associated with a higher risk of metastasis at diagnosis and a higher risk of relapse in GIST patients. GIST (dpeaa)DE-He213 KIT (dpeaa)DE-He213 Single nucleotide polymorphism (dpeaa)DE-He213 Prognostic factor (dpeaa)DE-He213 Alberti, Laurent aut Dufresne, Armelle aut Ray-Coquard, Isabelle aut Cassier, Philippe aut Meeus, Pierre aut Decouvelaere, Anne-Valérie aut Ranchère-Vince, Dominique aut Blay, Jean-Yves aut Enthalten in BMC cancer London : BioMed Central, 2001 15(2015), 1 vom: 24. Okt. (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:15 year:2015 number:1 day:24 month:10 https://dx.doi.org/10.1186/s12885-015-1817-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2015 1 24 10
allfieldsSound	10.1186/s12885-015-1817-5 doi (DE-627)SPR027670201 (SPR)s12885-015-1817-5-e DE-627 ger DE-627 rakwb eng Brahmi, Mehdi verfasserin aut KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Brahmi et al. 2015 Background Tumor genotype plays a crucial role in clinical management of GIST. Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a transfected cell line (3 T3 L541) and in two retrospectively collected series of 109 GIST patients in total. The control group consisted of 60 healthy donors collected at the French department of blood transfusion. Results In the 3 T3 L541 cell line, $ KIT^{L541} $ protein exhibited a spontaneous phosphorylation status comparable to that of wild-type KIT but displayed a phosphorylation pattern of AKT and ERK1/2 that was found similar to that of the classical mutated forms of the KIT receptor. Of 109 patients enrolled in this retrospective translational research study, 24 (22 %) harboured KITL541, similarly to the control group of healthy donors (n = 10 of 60, 17 %). A higher prevalence of the variant KITL541 was observed in patients with metastatic status at diagnosis (KITL541 correlated nine of 22 versus 15 of 87, p = 0.02). In addition, patients with KITL541 and localized GIST had a higher rate of relapse at 5 years and lower relapse free survival at 5 years in univariate, as well as in multivariate analysis. Response rate and duration of response to imatinib was similar in KITL541 and KITM541 patients. Conclusion KITL541 genotype is associated with a higher risk of metastasis at diagnosis and a higher risk of relapse in GIST patients. GIST (dpeaa)DE-He213 KIT (dpeaa)DE-He213 Single nucleotide polymorphism (dpeaa)DE-He213 Prognostic factor (dpeaa)DE-He213 Alberti, Laurent aut Dufresne, Armelle aut Ray-Coquard, Isabelle aut Cassier, Philippe aut Meeus, Pierre aut Decouvelaere, Anne-Valérie aut Ranchère-Vince, Dominique aut Blay, Jean-Yves aut Enthalten in BMC cancer London : BioMed Central, 2001 15(2015), 1 vom: 24. Okt. (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:15 year:2015 number:1 day:24 month:10 https://dx.doi.org/10.1186/s12885-015-1817-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2015 1 24 10
language	English
source	Enthalten in BMC cancer 15(2015), 1 vom: 24. Okt. volume:15 year:2015 number:1 day:24 month:10
sourceStr	Enthalten in BMC cancer 15(2015), 1 vom: 24. Okt. volume:15 year:2015 number:1 day:24 month:10
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	GIST KIT Single nucleotide polymorphism Prognostic factor
isfreeaccess_bool	true
container_title	BMC cancer
authorswithroles_txt_mv	Brahmi, Mehdi @@aut@@ Alberti, Laurent @@aut@@ Dufresne, Armelle @@aut@@ Ray-Coquard, Isabelle @@aut@@ Cassier, Philippe @@aut@@ Meeus, Pierre @@aut@@ Decouvelaere, Anne-Valérie @@aut@@ Ranchère-Vince, Dominique @@aut@@ Blay, Jean-Yves @@aut@@
publishDateDaySort_date	2015-10-24T00:00:00Z
hierarchy_top_id	326643710
id	SPR027670201
language_de	englisch
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Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a transfected cell line (3 T3 L541) and in two retrospectively collected series of 109 GIST patients in total. The control group consisted of 60 healthy donors collected at the French department of blood transfusion. Results In the 3 T3 L541 cell line, $ KIT^{L541} $ protein exhibited a spontaneous phosphorylation status comparable to that of wild-type KIT but displayed a phosphorylation pattern of AKT and ERK1/2 that was found similar to that of the classical mutated forms of the KIT receptor. Of 109 patients enrolled in this retrospective translational research study, 24 (22 %) harboured KITL541, similarly to the control group of healthy donors (n = 10 of 60, 17 %). A higher prevalence of the variant KITL541 was observed in patients with metastatic status at diagnosis (KITL541 correlated nine of 22 versus 15 of 87, p = 0.02). In addition, patients with KITL541 and localized GIST had a higher rate of relapse at 5 years and lower relapse free survival at 5 years in univariate, as well as in multivariate analysis. Response rate and duration of response to imatinib was similar in KITL541 and KITM541 patients. Conclusion KITL541 genotype is associated with a higher risk of metastasis at diagnosis and a higher risk of relapse in GIST patients.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">GIST</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">KIT</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Single nucleotide polymorphism</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Prognostic factor</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Alberti, Laurent</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Dufresne, Armelle</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Ray-Coquard, Isabelle</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Cassier, Philippe</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Meeus, Pierre</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Decouvelaere, Anne-Valérie</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Ranchère-Vince, Dominique</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Blay, Jean-Yves</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">BMC cancer</subfield><subfield code="d">London : BioMed Central, 2001</subfield><subfield code="g">15(2015), 1 vom: 24. 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author	Brahmi, Mehdi
spellingShingle	Brahmi, Mehdi misc GIST misc KIT misc Single nucleotide polymorphism misc Prognostic factor KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome
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topic_title	KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome GIST (dpeaa)DE-He213 KIT (dpeaa)DE-He213 Single nucleotide polymorphism (dpeaa)DE-He213 Prognostic factor (dpeaa)DE-He213
topic	misc GIST misc KIT misc Single nucleotide polymorphism misc Prognostic factor
topic_unstemmed	misc GIST misc KIT misc Single nucleotide polymorphism misc Prognostic factor
topic_browse	misc GIST misc KIT misc Single nucleotide polymorphism misc Prognostic factor
format_facet	Elektronische Aufsätze Aufsätze Elektronische Ressource
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title	KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome
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title_full	KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome
author_sort	Brahmi, Mehdi
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author_browse	Brahmi, Mehdi Alberti, Laurent Dufresne, Armelle Ray-Coquard, Isabelle Cassier, Philippe Meeus, Pierre Decouvelaere, Anne-Valérie Ranchère-Vince, Dominique Blay, Jean-Yves
container_volume	15
format_se	Elektronische Aufsätze
author-letter	Brahmi, Mehdi
doi_str_mv	10.1186/s12885-015-1817-5
title_sort	kit exon 10 variant (c.1621 a > c) single nucleotide polymorphism as predictor of gist patient outcome
title_auth	KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome
abstract	Background Tumor genotype plays a crucial role in clinical management of GIST. Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a transfected cell line (3 T3 L541) and in two retrospectively collected series of 109 GIST patients in total. The control group consisted of 60 healthy donors collected at the French department of blood transfusion. Results In the 3 T3 L541 cell line, $ KIT^{L541} $ protein exhibited a spontaneous phosphorylation status comparable to that of wild-type KIT but displayed a phosphorylation pattern of AKT and ERK1/2 that was found similar to that of the classical mutated forms of the KIT receptor. Of 109 patients enrolled in this retrospective translational research study, 24 (22 %) harboured KITL541, similarly to the control group of healthy donors (n = 10 of 60, 17 %). A higher prevalence of the variant KITL541 was observed in patients with metastatic status at diagnosis (KITL541 correlated nine of 22 versus 15 of 87, p = 0.02). In addition, patients with KITL541 and localized GIST had a higher rate of relapse at 5 years and lower relapse free survival at 5 years in univariate, as well as in multivariate analysis. Response rate and duration of response to imatinib was similar in KITL541 and KITM541 patients. Conclusion KITL541 genotype is associated with a higher risk of metastasis at diagnosis and a higher risk of relapse in GIST patients. © Brahmi et al. 2015
abstractGer	Background Tumor genotype plays a crucial role in clinical management of GIST. Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a transfected cell line (3 T3 L541) and in two retrospectively collected series of 109 GIST patients in total. The control group consisted of 60 healthy donors collected at the French department of blood transfusion. Results In the 3 T3 L541 cell line, $ KIT^{L541} $ protein exhibited a spontaneous phosphorylation status comparable to that of wild-type KIT but displayed a phosphorylation pattern of AKT and ERK1/2 that was found similar to that of the classical mutated forms of the KIT receptor. Of 109 patients enrolled in this retrospective translational research study, 24 (22 %) harboured KITL541, similarly to the control group of healthy donors (n = 10 of 60, 17 %). A higher prevalence of the variant KITL541 was observed in patients with metastatic status at diagnosis (KITL541 correlated nine of 22 versus 15 of 87, p = 0.02). In addition, patients with KITL541 and localized GIST had a higher rate of relapse at 5 years and lower relapse free survival at 5 years in univariate, as well as in multivariate analysis. Response rate and duration of response to imatinib was similar in KITL541 and KITM541 patients. Conclusion KITL541 genotype is associated with a higher risk of metastasis at diagnosis and a higher risk of relapse in GIST patients. © Brahmi et al. 2015
abstract_unstemmed	Background Tumor genotype plays a crucial role in clinical management of GIST. Whether genetic polymorphism of KIT may influence GIST patient outcome is unclear. Methods We investigated the biological and clinical significance of the presence of KIT exon 10 variant (c.1621 A > C), KITL541, in a transfected cell line (3 T3 L541) and in two retrospectively collected series of 109 GIST patients in total. The control group consisted of 60 healthy donors collected at the French department of blood transfusion. Results In the 3 T3 L541 cell line, $ KIT^{L541} $ protein exhibited a spontaneous phosphorylation status comparable to that of wild-type KIT but displayed a phosphorylation pattern of AKT and ERK1/2 that was found similar to that of the classical mutated forms of the KIT receptor. Of 109 patients enrolled in this retrospective translational research study, 24 (22 %) harboured KITL541, similarly to the control group of healthy donors (n = 10 of 60, 17 %). A higher prevalence of the variant KITL541 was observed in patients with metastatic status at diagnosis (KITL541 correlated nine of 22 versus 15 of 87, p = 0.02). In addition, patients with KITL541 and localized GIST had a higher rate of relapse at 5 years and lower relapse free survival at 5 years in univariate, as well as in multivariate analysis. Response rate and duration of response to imatinib was similar in KITL541 and KITM541 patients. Conclusion KITL541 genotype is associated with a higher risk of metastasis at diagnosis and a higher risk of relapse in GIST patients. © Brahmi et al. 2015
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title_short	KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome
url	https://dx.doi.org/10.1186/s12885-015-1817-5
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author2	Alberti, Laurent Dufresne, Armelle Ray-Coquard, Isabelle Cassier, Philippe Meeus, Pierre Decouvelaere, Anne-Valérie Ranchère-Vince, Dominique Blay, Jean-Yves
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KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome

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