PMID- 22426421 OWN - NLM STAT- MEDLINE DCOM- 20120607 LR - 20221222 IS - 1546-170X (Electronic) IS - 1078-8956 (Linking) VI - 18 IP - 4 DP - 2012 Mar 18 TI - A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. PG - 521-8 LID - 10.1038/nm.2713 [doi] AB - Tyrosine kinase inhibitors (TKIs) elicit high response rates among individuals with kinase-driven malignancies, including chronic myeloid leukemia (CML) and epidermal growth factor receptor-mutated non-small-cell lung cancer (EGFR NSCLC). However, the extent and duration of these responses are heterogeneous, suggesting the existence of genetic modifiers affecting an individual's response to TKIs. Using paired-end DNA sequencing, we discovered a common intronic deletion polymorphism in the gene encoding BCL2-like 11 (BIM). BIM is a pro-apoptotic member of the B-cell CLL/lymphoma 2 (BCL2) family of proteins, and its upregulation is required for TKIs to induce apoptosis in kinase-driven cancers. The polymorphism switched BIM splicing from exon 4 to exon 3, which resulted in expression of BIM isoforms lacking the pro-apoptotic BCL2-homology domain 3 (BH3). The polymorphism was sufficient to confer intrinsic TKI resistance in CML and EGFR NSCLC cell lines, but this resistance could be overcome with BH3-mimetic drugs. Notably, individuals with CML and EGFR NSCLC harboring the polymorphism experienced significantly inferior responses to TKIs than did individuals without the polymorphism (P = 0.02 for CML and P = 0.027 for EGFR NSCLC). Our results offer an explanation for the heterogeneity of TKI responses across individuals and suggest the possibility of personalizing therapy with BH3 mimetics to overcome BIM-polymorphism-associated TKI resistance. FAU - Ng, King Pan AU - Ng KP AD - Cancer & Stem Cell Biology Signature Research Programme, Duke-National University of Singapore Graduate Medical School, Singapore. FAU - Hillmer, Axel M AU - Hillmer AM FAU - Chuah, Charles T H AU - Chuah CT FAU - Juan, Wen Chun AU - Juan WC FAU - Ko, Tun Kiat AU - Ko TK FAU - Teo, Audrey S M AU - Teo AS FAU - Ariyaratne, Pramila N AU - Ariyaratne PN FAU - Takahashi, Naoto AU - Takahashi N FAU - Sawada, Kenichi AU - Sawada K FAU - Fei, Yao AU - Fei Y FAU - Soh, Sheila AU - Soh S FAU - Lee, Wah Heng AU - Lee WH FAU - Huang, John W J AU - Huang JW FAU - Allen, John C Jr AU - Allen JC Jr FAU - Woo, Xing Yi AU - Woo XY FAU - Nagarajan, Niranjan AU - Nagarajan N FAU - Kumar, Vikrant AU - Kumar V FAU - Thalamuthu, Anbupalam AU - Thalamuthu A FAU - Poh, Wan Ting AU - Poh WT FAU - Ang, Ai Leen AU - Ang AL FAU - Mya, Hae Tha AU - Mya HT FAU - How, Gee Fung AU - How GF FAU - Yang, Li Yi AU - Yang LY FAU - Koh, Liang Piu AU - Koh LP FAU - Chowbay, Balram AU - Chowbay B FAU - Chang, Chia-Tien AU - Chang CT FAU - Nadarajan, Veera S AU - Nadarajan VS FAU - Chng, Wee Joo AU - Chng WJ FAU - Than, Hein AU - Than H FAU - Lim, Lay Cheng AU - Lim LC FAU - Goh, Yeow Tee AU - Goh YT FAU - Zhang, Shenli AU - Zhang S FAU - Poh, Dianne AU - Poh D FAU - Tan, Patrick AU - Tan P FAU - Seet, Ju-Ee AU - Seet JE FAU - Ang, Mei-Kim AU - Ang MK FAU - Chau, Noan-Minh AU - Chau NM FAU - Ng, Quan-Sing AU - Ng QS FAU - Tan, Daniel S W AU - Tan DS FAU - Soda, Manabu AU - Soda M FAU - Isobe, Kazutoshi AU - Isobe K FAU - Nothen, Markus M AU - Nothen MM FAU - Wong, Tien Y AU - Wong TY FAU - Shahab, Atif AU - Shahab A FAU - Ruan, Xiaoan AU - Ruan X FAU - Cacheux-Rataboul, Valere AU - Cacheux-Rataboul V FAU - Sung, Wing-Kin AU - Sung WK FAU - Tan, Eng Huat AU - Tan EH FAU - Yatabe, Yasushi AU - Yatabe Y FAU - Mano, Hiroyuki AU - Mano H FAU - Soo, Ross A AU - Soo RA FAU - Chin, Tan Min AU - Chin TM FAU - Lim, Wan-Teck AU - Lim WT FAU - Ruan, Yijun AU - Ruan Y FAU - Ong, S Tiong AU - Ong ST LA - eng SI - GEO/GSE26954 SI - GEO/GSE28303 PT - Journal Article PT - Multicenter Study PT - Research Support, Non-U.S. Gov't DEP - 20120318 PL - United States TA - Nat Med JT - Nature medicine JID - 9502015 RN - 0 (Annexins) RN - 0 (Apoptosis Regulatory Proteins) RN - 0 (BCL2L11 protein, human) RN - 0 (BH3 Interacting Domain Death Agonist Protein) RN - 0 (BID protein, human) RN - 0 (Bcl-2-Like Protein 11) RN - 0 (Membrane Proteins) RN - 0 (Protein Isoforms) RN - 0 (Protein Kinase Inhibitors) RN - 0 (Proto-Oncogene Proteins) RN - 0 (RNA, Small Interfering) RN - EC 2.7.10.1 (ErbB Receptors) SB - IM CIN - Nat Rev Clin Oncol. 2012 Apr 10;9(5):247. doi: 10.1038/nrclinonc.2012.57. PMID: 22473101 CIN - Nat Med. 2012 Apr 05;18(4):494-6. doi: 10.1038/nm.2725. PMID: 22481406 CIN - Nat Med. 2014 Oct;20(10):1090. doi: 10.1038/nm.3638. PMID: 25295932 CIN - Nat Med. 2014 Oct;20(10):1090-1. doi: 10.1038/nm.3652. PMID: 25295933 MH - Adult MH - Aged MH - Aged, 80 and over MH - Annexins/metabolism MH - Apoptosis/*drug effects MH - Apoptosis Regulatory Proteins/*genetics MH - BH3 Interacting Domain Death Agonist Protein/genetics MH - Bcl-2-Like Protein 11 MH - Carcinoma, Non-Small-Cell Lung/drug therapy/*genetics MH - Cell Line, Tumor MH - Cohort Studies MH - Dose-Response Relationship, Drug MH - Drug Resistance, Neoplasm/*drug effects/genetics MH - Enzyme-Linked Immunosorbent Assay/methods MH - ErbB Receptors/genetics MH - Exons/genetics MH - Female MH - Follow-Up Studies MH - Gene Expression Regulation, Neoplastic/drug effects MH - Gene Frequency MH - Genotype MH - Humans MH - International Cooperation MH - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy/*genetics MH - Lung Neoplasms/drug therapy/*genetics MH - Male MH - Membrane Proteins/*genetics MH - Middle Aged MH - Polymorphism, Genetic/*genetics MH - Protein Isoforms/genetics/metabolism MH - Protein Kinase Inhibitors/*pharmacology MH - Proto-Oncogene Proteins/*genetics MH - RNA, Small Interfering/metabolism MH - Sequence Deletion/*genetics MH - Statistics, Nonparametric MH - Transfection EDAT- 2012/03/20 06:00 MHDA- 2012/06/08 06:00 CRDT- 2012/03/20 06:00 PHST- 2011/09/07 00:00 [received] PHST- 2012/02/21 00:00 [accepted] PHST- 2012/03/20 06:00 [entrez] PHST- 2012/03/20 06:00 [pubmed] PHST- 2012/06/08 06:00 [medline] AID - nm.2713 [pii] AID - 10.1038/nm.2713 [doi] PST - epublish SO - Nat Med. 2012 Mar 18;18(4):521-8. doi: 10.1038/nm.2713.