Compendium of Cancer Genome Aberrations

HAEM5:ALK-positive anaplastic large cell lymphoma: Difference between revisions

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*ALK kinase domain secondary mutations, including L1196 M, G1269A, L1152R, C1156Y, I1171T, F1174 L, G1202R, and S1206Y, have been identified as the key mechanism of resistance<ref name=":23" /><ref name=":24" /><ref name=":7" /><ref name=":8" /><ref name=":9" /><ref name=":25" /><ref name=":26" />
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Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
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A variety of mechanisms for the acquired resistance to ALK inhibitors, such as crizotinib, have been described:
A variety of mechanisms for the acquired resistance to ALK inhibitors, such as crizotinib, have been described:


*ALK kinase domain secondary mutations, including L1196 M, G1269A, L1152R, C1156Y, I1171T, F1174 L, G1202R, and S1206Y, have been identified as the key mechanism of resistance<ref>{{Cite journal|last=Guérin|first=Annie|last2=Sasane|first2=Medha|last3=Zhang|first3=Jie|last4=Macalalad|first4=Alexander R.|last5=Galebach|first5=Philip|last6=Jarvis|first6=John|last7=Kageleiry|first7=Andrew|last8=Culver|first8=Kenneth|last9=Wu|first9=Eric Q.|date=2015-06|title=ALK rearrangement testing and treatment patterns for patients with ALK-positive non-small cell lung cancer|url=https://pubmed.ncbi.nlm.nih.gov/25914136/|journal=Cancer Epidemiology|volume=39|issue=3|pages=307–312|doi=10.1016/j.canep.2015.04.005|issn=1877-783X|pmid=25914136}}</ref><ref>{{Cite journal|last=Gainor|first=Justin F.|last2=Varghese|first2=Anna M.|last3=Ou|first3=Sai-Hong Ignatius|last4=Kabraji|first4=Sheheryar|last5=Awad|first5=Mark M.|last6=Katayama|first6=Ryohei|last7=Pawlak|first7=Amanda|last8=Mino-Kenudson|first8=Mari|last9=Yeap|first9=Beow Y.|date=2013-08-01|title=ALK rearrangements are mutually exclusive with mutations in EGFR or KRAS: an analysis of 1,683 patients with non-small cell lung cancer|url=https://pubmed.ncbi.nlm.nih.gov/23729361/|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=19|issue=15|pages=4273–4281|doi=10.1158/1078-0432.CCR-13-0318|issn=1557-3265|pmc=3874127|pmid=23729361}}</ref><ref name=":7">{{Cite journal|last=Doebele|first=Robert C.|last2=Pilling|first2=Amanda B.|last3=Aisner|first3=Dara L.|last4=Kutateladze|first4=Tatiana G.|last5=Le|first5=Anh T.|last6=Weickhardt|first6=Andrew J.|last7=Kondo|first7=Kimi L.|last8=Linderman|first8=Derek J.|last9=Heasley|first9=Lynn E.|date=2012-03-01|title=Mechanisms of resistance to crizotinib in patients with ALK gene rearranged non-small cell lung cancer|url=https://pubmed.ncbi.nlm.nih.gov/22235099/|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=18|issue=5|pages=1472–1482|doi=10.1158/1078-0432.CCR-11-2906|issn=1557-3265|pmc=3311875|pmid=22235099}}</ref><ref name=":8">{{Cite journal|last=Isozaki|first=Hideko|last2=Takigawa|first2=Nagio|last3=Kiura|first3=Katsuyuki|date=2015-04-30|title=Mechanisms of Acquired Resistance to ALK Inhibitors and the Rationale for Treating ALK-positive Lung Cancer|url=https://pubmed.ncbi.nlm.nih.gov/25941796/|journal=Cancers|volume=7|issue=2|pages=763–783|doi=10.3390/cancers7020763|issn=2072-6694|pmc=4491683|pmid=25941796}}</ref><ref name=":9">{{Cite journal|last=Sasaki|first=Takaaki|last2=Koivunen|first2=Jussi|last3=Ogino|first3=Atsuko|last4=Yanagita|first4=Masahiko|last5=Nikiforow|first5=Sarah|last6=Zheng|first6=Wei|last7=Lathan|first7=Christopher|last8=Marcoux|first8=J. Paul|last9=Du|first9=Jinyan|date=2011-09-15|title=A novel ALK secondary mutation and EGFR signaling cause resistance to ALK kinase inhibitors|url=https://pubmed.ncbi.nlm.nih.gov/21791641/|journal=Cancer Research|volume=71|issue=18|pages=6051–6060|doi=10.1158/0008-5472.CAN-11-1340|issn=1538-7445|pmc=3278914|pmid=21791641}}</ref><ref>{{Cite journal|last=Toyokawa|first=Gouji|last2=Hirai|first2=Fumihiko|last3=Inamasu|first3=Eiko|last4=Yoshida|first4=Tsukihisa|last5=Nosaki|first5=Kaname|last6=Takenaka|first6=Tomoyoshi|last7=Yamaguchi|first7=Masafumi|last8=Seto|first8=Takashi|last9=Takenoyama|first9=Mitsuhiro|date=2014-12|title=Secondary mutations at I1171 in the ALK gene confer resistance to both Crizotinib and Alectinib|url=https://pubmed.ncbi.nlm.nih.gov/25393798/|journal=Journal of Thoracic Oncology: Official Publication of the International Association for the Study of Lung Cancer|volume=9|issue=12|pages=e86–87|doi=10.1097/JTO.0000000000000358|issn=1556-1380|pmid=25393798}}</ref><ref>{{Cite journal|last=Li|first=Yanrong|last2=Wang|first2=Kai|last3=Song|first3=Na|last4=Hou|first4=Kezuo|last5=Che|first5=Xiaofang|last6=Zhou|first6=Yang|last7=Liu|first7=Yunpeng|last8=Zhang|first8=Jingdong|date=2020-06|title=Activation of IGF-1R pathway and NPM-ALK G1269A mutation confer resistance to crizotinib treatment in NPM-ALK positive lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/31177400/|journal=Investigational New Drugs|volume=38|issue=3|pages=599–609|doi=10.1007/s10637-019-00802-7|issn=1573-0646|pmid=31177400}}</ref>
*ALK kinase domain secondary mutations, including L1196 M, G1269A, L1152R, C1156Y, I1171T, F1174 L, G1202R, and S1206Y, have been identified as the key mechanism of resistance<ref name=":23">{{Cite journal|last=Guérin|first=Annie|last2=Sasane|first2=Medha|last3=Zhang|first3=Jie|last4=Macalalad|first4=Alexander R.|last5=Galebach|first5=Philip|last6=Jarvis|first6=John|last7=Kageleiry|first7=Andrew|last8=Culver|first8=Kenneth|last9=Wu|first9=Eric Q.|date=2015-06|title=ALK rearrangement testing and treatment patterns for patients with ALK-positive non-small cell lung cancer|url=https://pubmed.ncbi.nlm.nih.gov/25914136/|journal=Cancer Epidemiology|volume=39|issue=3|pages=307–312|doi=10.1016/j.canep.2015.04.005|issn=1877-783X|pmid=25914136}}</ref><ref name=":24">{{Cite journal|last=Gainor|first=Justin F.|last2=Varghese|first2=Anna M.|last3=Ou|first3=Sai-Hong Ignatius|last4=Kabraji|first4=Sheheryar|last5=Awad|first5=Mark M.|last6=Katayama|first6=Ryohei|last7=Pawlak|first7=Amanda|last8=Mino-Kenudson|first8=Mari|last9=Yeap|first9=Beow Y.|date=2013-08-01|title=ALK rearrangements are mutually exclusive with mutations in EGFR or KRAS: an analysis of 1,683 patients with non-small cell lung cancer|url=https://pubmed.ncbi.nlm.nih.gov/23729361/|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=19|issue=15|pages=4273–4281|doi=10.1158/1078-0432.CCR-13-0318|issn=1557-3265|pmc=3874127|pmid=23729361}}</ref><ref name=":7">{{Cite journal|last=Doebele|first=Robert C.|last2=Pilling|first2=Amanda B.|last3=Aisner|first3=Dara L.|last4=Kutateladze|first4=Tatiana G.|last5=Le|first5=Anh T.|last6=Weickhardt|first6=Andrew J.|last7=Kondo|first7=Kimi L.|last8=Linderman|first8=Derek J.|last9=Heasley|first9=Lynn E.|date=2012-03-01|title=Mechanisms of resistance to crizotinib in patients with ALK gene rearranged non-small cell lung cancer|url=https://pubmed.ncbi.nlm.nih.gov/22235099/|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=18|issue=5|pages=1472–1482|doi=10.1158/1078-0432.CCR-11-2906|issn=1557-3265|pmc=3311875|pmid=22235099}}</ref><ref name=":8">{{Cite journal|last=Isozaki|first=Hideko|last2=Takigawa|first2=Nagio|last3=Kiura|first3=Katsuyuki|date=2015-04-30|title=Mechanisms of Acquired Resistance to ALK Inhibitors and the Rationale for Treating ALK-positive Lung Cancer|url=https://pubmed.ncbi.nlm.nih.gov/25941796/|journal=Cancers|volume=7|issue=2|pages=763–783|doi=10.3390/cancers7020763|issn=2072-6694|pmc=4491683|pmid=25941796}}</ref><ref name=":9">{{Cite journal|last=Sasaki|first=Takaaki|last2=Koivunen|first2=Jussi|last3=Ogino|first3=Atsuko|last4=Yanagita|first4=Masahiko|last5=Nikiforow|first5=Sarah|last6=Zheng|first6=Wei|last7=Lathan|first7=Christopher|last8=Marcoux|first8=J. Paul|last9=Du|first9=Jinyan|date=2011-09-15|title=A novel ALK secondary mutation and EGFR signaling cause resistance to ALK kinase inhibitors|url=https://pubmed.ncbi.nlm.nih.gov/21791641/|journal=Cancer Research|volume=71|issue=18|pages=6051–6060|doi=10.1158/0008-5472.CAN-11-1340|issn=1538-7445|pmc=3278914|pmid=21791641}}</ref><ref name=":25">{{Cite journal|last=Toyokawa|first=Gouji|last2=Hirai|first2=Fumihiko|last3=Inamasu|first3=Eiko|last4=Yoshida|first4=Tsukihisa|last5=Nosaki|first5=Kaname|last6=Takenaka|first6=Tomoyoshi|last7=Yamaguchi|first7=Masafumi|last8=Seto|first8=Takashi|last9=Takenoyama|first9=Mitsuhiro|date=2014-12|title=Secondary mutations at I1171 in the ALK gene confer resistance to both Crizotinib and Alectinib|url=https://pubmed.ncbi.nlm.nih.gov/25393798/|journal=Journal of Thoracic Oncology: Official Publication of the International Association for the Study of Lung Cancer|volume=9|issue=12|pages=e86–87|doi=10.1097/JTO.0000000000000358|issn=1556-1380|pmid=25393798}}</ref><ref name=":26">{{Cite journal|last=Li|first=Yanrong|last2=Wang|first2=Kai|last3=Song|first3=Na|last4=Hou|first4=Kezuo|last5=Che|first5=Xiaofang|last6=Zhou|first6=Yang|last7=Liu|first7=Yunpeng|last8=Zhang|first8=Jingdong|date=2020-06|title=Activation of IGF-1R pathway and NPM-ALK G1269A mutation confer resistance to crizotinib treatment in NPM-ALK positive lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/31177400/|journal=Investigational New Drugs|volume=38|issue=3|pages=599–609|doi=10.1007/s10637-019-00802-7|issn=1573-0646|pmid=31177400}}</ref>
*The G1269A mutation, in which the glycine at 1269 is substituted with an alanine, causes steric hindrance, resulting in decreased affinity for crizotinib.<ref>{{Cite journal|last=Friboulet|first=Luc|last2=Li|first2=Nanxin|last3=Katayama|first3=Ryohei|last4=Lee|first4=Christian C.|last5=Gainor|first5=Justin F.|last6=Crystal|first6=Adam S.|last7=Michellys|first7=Pierre-Yves|last8=Awad|first8=Mark M.|last9=Yanagitani|first9=Noriko|date=2014-06|title=The ALK inhibitor ceritinib overcomes crizotinib resistance in non-small cell lung cancer|url=https://pubmed.ncbi.nlm.nih.gov/24675041/|journal=Cancer Discovery|volume=4|issue=6|pages=662–673|doi=10.1158/2159-8290.CD-13-0846|issn=2159-8290|pmc=4068971|pmid=24675041}}</ref><ref>{{Cite journal|last=Alshareef|first=Abdulraheem|last2=Zhang|first2=Hai-Feng|last3=Huang|first3=Yung-Hsing|last4=Wu|first4=Chengsheng|last5=Zhang|first5=Jing Dong|last6=Wang|first6=Peng|last7=El-Sehemy|first7=Ahmed|last8=Fares|first8=Mohamed|last9=Lai|first9=Raymond|date=2016-09-19|title=The use of cellular thermal shift assay (CETSA) to study Crizotinib resistance in ALK-expressing human cancers|url=https://pubmed.ncbi.nlm.nih.gov/27641368/|journal=Scientific Reports|volume=6|pages=33710|doi=10.1038/srep33710|issn=2045-2322|pmc=5027386|pmid=27641368}}</ref>
*The G1269A mutation, in which the glycine at 1269 is substituted with an alanine, causes steric hindrance, resulting in decreased affinity for crizotinib.<ref>{{Cite journal|last=Friboulet|first=Luc|last2=Li|first2=Nanxin|last3=Katayama|first3=Ryohei|last4=Lee|first4=Christian C.|last5=Gainor|first5=Justin F.|last6=Crystal|first6=Adam S.|last7=Michellys|first7=Pierre-Yves|last8=Awad|first8=Mark M.|last9=Yanagitani|first9=Noriko|date=2014-06|title=The ALK inhibitor ceritinib overcomes crizotinib resistance in non-small cell lung cancer|url=https://pubmed.ncbi.nlm.nih.gov/24675041/|journal=Cancer Discovery|volume=4|issue=6|pages=662–673|doi=10.1158/2159-8290.CD-13-0846|issn=2159-8290|pmc=4068971|pmid=24675041}}</ref><ref>{{Cite journal|last=Alshareef|first=Abdulraheem|last2=Zhang|first2=Hai-Feng|last3=Huang|first3=Yung-Hsing|last4=Wu|first4=Chengsheng|last5=Zhang|first5=Jing Dong|last6=Wang|first6=Peng|last7=El-Sehemy|first7=Ahmed|last8=Fares|first8=Mohamed|last9=Lai|first9=Raymond|date=2016-09-19|title=The use of cellular thermal shift assay (CETSA) to study Crizotinib resistance in ALK-expressing human cancers|url=https://pubmed.ncbi.nlm.nih.gov/27641368/|journal=Scientific Reports|volume=6|pages=33710|doi=10.1038/srep33710|issn=2045-2322|pmc=5027386|pmid=27641368}}</ref>
*Gain in ALK copy number and loss of ALK gene rearrangement have also been implicated in the development of acquired resistance to crizotinib.<ref name=":7" /><ref name=":8" /><ref name=":9" /><br />
*Gain in ALK copy number and loss of ALK gene rearrangement have also been implicated in the development of acquired resistance to crizotinib.<ref name=":7" /><ref name=":8" /><ref name=":9" /><br />
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|Increased cell growth and proliferation
|Increased cell growth and proliferation
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|ALK; fusion protein derivatives  
|ALK; fusion protein derivatives
|JAK/STAT3
|JAK/STAT3
|Cell survival and phenotypic changes
|Cell survival and phenotypic changes
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