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Lung cancer, platinum analog-based frontline treatment and pharmacogenetic limitations. 肺癌、以铂类药物为基础的一线治疗和药物遗传学限制。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-11-19 DOI: 10.1080/17410541.2024.2391269
Maryam Saqib, Zari Salahud Din, Sehrish Zafar, Nayla Munawar, Rukhsana Nawaz, Sagheer Ahmed, Mohammad Hamid Hamdard
{"title":"Lung cancer, platinum analog-based frontline treatment and pharmacogenetic limitations.","authors":"Maryam Saqib, Zari Salahud Din, Sehrish Zafar, Nayla Munawar, Rukhsana Nawaz, Sagheer Ahmed, Mohammad Hamid Hamdard","doi":"10.1080/17410541.2024.2391269","DOIUrl":"10.1080/17410541.2024.2391269","url":null,"abstract":"<p><p>Lung cancer has the highest mortality rate among all the highly prevalent neoplasia globally. The major concern with its frontline treatment-cisplatin, is the rapid progression of chemoresistance and multi-organ-based toxicities including hearing loss and tinnitus, nephrotoxicity, hepatotoxicity and myelosuppression including anemia and neutropenia. In this review, studies concluding the association of single nucleotide polymorphisms (SNP) in disparate genes with aforementioned toxicity points are summarized to observe the pharmacogenomic pattern. Especially, <i>SNPs</i> in <i>ATP7B</i>, <i>ERCC-1</i>, <i>ERCC-2</i>, <i>MATE-1</i>, <i>OCT-2</i>, <i>ABCB-1</i>, <i>ABCC-1</i>, <i>ABCG-2</i>, <i>ABCC-2</i>, <i>SLC22A</i>, <i>ERCC-5</i>, <i>BRCA-1</i>, <i>GSTM-3</i>, <i>GSTM-4</i> and <i>GSTM-5</i> genes appear to be associated with the therapeutic response and/or adverse effects of cisplatin. We recommend utilizing this information to minimize the risk of treatment failure due to chemoresistance and adverse effects on other organs.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"385-400"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142669607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effect of RNLS gene polymorphisms on preeclampsia susceptibility: a meta-analysis study. RNLS基因多态性对子痫前期易感性的影响：一项荟萃分析研究。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-05-28 DOI: 10.1080/17410541.2024.2341608
Saeedeh Salimi, Abbas Mohammadpour-Gharehbagh, Mohaddeseh Hedayat, Hamidreza Galavi, Mahdiyeh Harati-Sadegh
{"title":"The effect of <i>RNLS</i> gene polymorphisms on preeclampsia susceptibility: a meta-analysis study.","authors":"Saeedeh Salimi, Abbas Mohammadpour-Gharehbagh, Mohaddeseh Hedayat, Hamidreza Galavi, Mahdiyeh Harati-Sadegh","doi":"10.1080/17410541.2024.2341608","DOIUrl":"10.1080/17410541.2024.2341608","url":null,"abstract":"<p><p><b>Aim:</b> The authors designed a meta-analysis to find a comprehensive result of the impact of <i>RNLS</i> polymorphisms on preeclampsia (PE) susceptibility. <b>Methods:</b> The online databases PubMed, Scopus, and Google Scholar were employed for the purpose of literature search. Data analysis was conducted using STATA (ver. 12.0) and MetaGenyo web tool. <b>Results:</b> The findings showed that the <i>RNLS</i> rs10887800 polymorphism could increase risk of PE in allelic, codominant heterozygous and dominant genetic models. In addition, the analysis indicated that the <i>RNLS</i> rs2576178 polymorphism was associated with higher risk of PE in allelic, codominant homozygous, dominant, and recessive models. <b>Conclusion:</b> The findings of meta-analysis showed that the <i>RNLS</i> rs10887800 and rs2576178 polymorphisms could increase risk of PE in several genetic models.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":"21 3","pages":"191-204"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141763601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of ADRB1 polymorphism in patients with acute coronary syndrome treated with ticagrelor and aspirin. 评估接受替卡格雷和阿司匹林治疗的急性冠状动脉综合征患者的 ADRB1 多态性。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-04-29 DOI: 10.2217/pme-2024-0004
Xiang Zhang, Qi Yuan, Dawei Zhang
{"title":"Assessment of <i>ADRB1</i> polymorphism in patients with acute coronary syndrome treated with ticagrelor and aspirin.","authors":"Xiang Zhang, Qi Yuan, Dawei Zhang","doi":"10.2217/pme-2024-0004","DOIUrl":"10.2217/pme-2024-0004","url":null,"abstract":"<p><p><b>Background:</b> This study investigated the influence of <i>ADRB1</i> gene rs1801253 polymorphism on the treatment response of ticagrelor and aspirin in patients with acute coronary syndrome (ACS). <b>Methods:</b> Genetic typing was detected by Sanger sequencing. Platelet inhibition was assessed using thromboelastography. Kaplan-Meier and Cox regression were applied for prognosis analysis. <b>Results:</b> Out of 200 participants, 94 cases with rs1801253-CC genotype and 106 cases with CG+GG genotype were found. There was no significant difference between the rs1801253-CC and CG+GG groups in the number of ST-segment elevation myocardial infarction, non-ST-segment elevation myocardial infarction and unstable angina patients. There was no statistical difference in the basic data of patients in the two groups in terms of age, sex, medical history and medicine use in the dominant model. The rs1801253-CC genotype was a risk prognostic factor for ACS patients based on the Cox regression analysis results. <b>Conclusion:</b> Detecting <i>ADRB1</i> polymorphism is crucial for ACS patients undergoing treatment with ticagrelor and aspirin.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"167-174"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140854436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Precision medicine activities and opportunities for shaping maternal and neonatal health in Qatar. 精准医疗活动和机遇，促进卡塔尔孕产妇和新生儿健康。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-09-30 DOI: 10.1080/17410541.2024.2394397
Nader Al-Dewik, Tala Abuarja, Salma Younes, Gheyath Nasrallah, Mohamed Alsharshani, Faisal E Ibrahim, Muthanna Samara, Thomas Farrell, Palli Valapila Abdulrouf, M Walid Qoronfleh, Hilal Al Rifai
{"title":"Precision medicine activities and opportunities for shaping maternal and neonatal health in Qatar.","authors":"Nader Al-Dewik, Tala Abuarja, Salma Younes, Gheyath Nasrallah, Mohamed Alsharshani, Faisal E Ibrahim, Muthanna Samara, Thomas Farrell, Palli Valapila Abdulrouf, M Walid Qoronfleh, Hilal Al Rifai","doi":"10.1080/17410541.2024.2394397","DOIUrl":"10.1080/17410541.2024.2394397","url":null,"abstract":"<p><p>Precision Medicine (PM) is a transformative clinical medicine strategy that aims to revolutionize healthcare by leveraging biological information and biomarkers. In the context of maternal and neonatal health, PM enables personalized care from preconception through the postnatal period. Qatar has emerged as a key player in PM research, with dedicated programs driving advancements and translating cutting-edge research into clinical applications. This article delves into neonatal and maternal health in Qatar, emphasizing PM programs and initiatives that have been implemented. It also features noteworthy clinical cases that demonstrate the effectiveness of precision interventions. Furthermore, the article highlights the role of pharmacogenomics in addressing various maternal health conditions. The review further explores potential advancements in the application of PM in maternal and neonatal healthcare in Qatar.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"313-333"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
miR-559 rs58450758 polymorphism is associated with colorectal cancer risk and prognosis in Chinese Han population. miR-559 rs58450758 多态性与中国汉族人群的结直肠癌风险和预后有关。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-10-22 DOI: 10.1080/17410541.2024.2412512
Hanxing Huang, Lihan Xiao, Min Xiao, Kaiying Chen, Wentian Zheng, Ning Wu
{"title":"miR-559 rs58450758 polymorphism is associated with colorectal cancer risk and prognosis in Chinese Han population.","authors":"Hanxing Huang, Lihan Xiao, Min Xiao, Kaiying Chen, Wentian Zheng, Ning Wu","doi":"10.1080/17410541.2024.2412512","DOIUrl":"10.1080/17410541.2024.2412512","url":null,"abstract":"<p><p><b>Aim:</b> This research examined the correlation between miR-559 rs58450758 and the clinical pathological characteristics and prognosis of CRC.<b>Materials & methods:</b> RT-qPCR was utilized to assess the miR-559 expression levels. Chi-square test was used to investigate the relationship between miR-559 and clinical features. The association between rs58450758 different genotypes and CRC risk, as well as clinical pathological parameters, was explored, utilizing logistic regression analysis and chi-square tests. The Cox regression model and Kaplan-Meier analysis evaluated overall survival in individuals with CRC.<b>Results:</b> The miR-559 was down-regulated in CRC patients' serum. The expressions of miR-559 were significantly associated with tumor size, differentiation, TNM stage and lymph node metastasis. The rs58450758 TT genotype and T allele carriers were more prevalent among CRC patients. The rs58450758 polymorphism was notably linked to tumor size, differentiation, TNM stage and lymph node metastasis in CRC patients. Furthermore, CC genotype carriers exhibited a longer survival period than CT/TT genotypes within the CRC population.<b>Conclusion:</b> The miR-559 rs58450758 polymorphism exhibits promise as a potential biomarker for prognosticating the outcomes of CRC.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"303-311"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic utility of the 23-gene expression profile test for an atypical intradermal melanocytic proliferation. 23基因表达谱测试对非典型皮内黑色素细胞增殖的诊断效用。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-07 DOI: 10.2217/pme-2023-0110
Etan Marks, Anais A Badia, Matthew S Goldberg
{"title":"Diagnostic utility of the 23-gene expression profile test for an atypical intradermal melanocytic proliferation.","authors":"Etan Marks, Anais A Badia, Matthew S Goldberg","doi":"10.2217/pme-2023-0110","DOIUrl":"10.2217/pme-2023-0110","url":null,"abstract":"<p><p>Ancillary tests such as immunohistochemistry (IHC) and gene expression profile (GEP) testing may be needed to arrive at a definitive diagnosis for some atypical melanocytic neoplasms. A 34-year-old male with a family history of melanoma presented with a large, heterogeneous melanocytic lesion on the cheek. Histopathological review of two biopsies revealed an atypical intradermal melanocytic proliferation with spitzoid features without ulceration or regression. Scattered mitotic figures were identified. In addition to performing SOX10 IHC, PRAME and HMB45 staining highlighted weak, patchy positivity that was stronger in superficial, pleomorphic melanocytes (Ki-67, 5-7% mitotic rate). Based on these concerning but ambiguous IHC results and lingering concern for melanoma reiterated by other consulting dermatopathologists, the 23-GEP was requested for both specimens, which both returned a malignant result. The inconclusive histopathological features of malignancy were resolved by 23-GEP testing, facilitating a final diagnosis of malignant melanoma (pT3a, 2.5 mm Breslow depth, Clark's level IV).</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"21-27"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138500598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Introduction of a single-nucleotide variant, rs16851030, into the ADORA1 gene increased cellular susceptibility to hypoxia. 在 ADORA1 基因中引入单核苷酸变体 rs16851030 会增加细胞对缺氧的敏感性。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-10-23 DOI: 10.1080/17410541.2024.2412514
Poh Kuan Wong, Saiful Effendi Syafruddin, Fook Choe Cheah, Norazrina Azmi, Pei Yuen Ng, Eng Wee Chua
{"title":"Introduction of a single-nucleotide variant, rs16851030, into the <i>ADORA1</i> gene increased cellular susceptibility to hypoxia.","authors":"Poh Kuan Wong, Saiful Effendi Syafruddin, Fook Choe Cheah, Norazrina Azmi, Pei Yuen Ng, Eng Wee Chua","doi":"10.1080/17410541.2024.2412514","DOIUrl":"10.1080/17410541.2024.2412514","url":null,"abstract":"<p><p><b>Aim:</b> Rs16851030, a single-nucleotide variant located in the 3'-untranslated region of the <i>ADORA1</i> gene, has been proposed as a potential marker of caffeine sensitivity in apnea of prematurity. Besides, it is associated with aspirin-induced asthma and the development of acute chest syndrome. However, its functional significance is still unconfirmed. This study aimed to elucidate the functional impact of rs16851030 by using CRISPR/Cas9 approach to induce the DNA variant and attendant physiological changes.<b>Methods:</b> Rs16851030 was introduced into HEK293 cells via homology-directed repair (HDR). Edited cells were fluorescence-enriched, sorted, isolated, and expanded into single-cell-derived clones. The edit was confirmed by Sanger sequencing. RNA sequencing was used to analyze affected pathways.<b>Results:</b> Rs16851030-mutant cells showed increased susceptibility to hypoxia, a condition related to apnea of prematurity. After 24 h of hypoxia, the viability of mutant clones 1 and 2 was low compared with wild-type cells (75.45% and 74.47% vs. 96.34%). RNA sequencing revealed transcriptomic changes linked to this increased vulnerability.<b>Conclusion:</b> Rs16851030 impairs cellular resistance to hypoxia, suggesting its role in conditions like apnea of prematurity. Further research should investigate the molecular mechanisms and transcriptomic alterations caused by rs16851030 under hypoxic conditions.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"353-366"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of novel variants of XPA and POLH/XPV genes in xeroderma pigmentosum patients in Vietnam. 越南着色性干皮病患者XPA和POLH/XPV基因新变异的鉴定。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-12-10 DOI: 10.1080/17410541.2024.2393073
Thi Lan Anh Luong, Thu Lan Hoang, Duc Phan Tran, Thi Mai Le, Hien Tran, Phuong Thuy Ho, Huyen Nga Hoang, Hoa Giang, Duy Linh Vu, Nghi Huu Dinh, Manh Tan Nguyen, Huu Sau Nguyen
{"title":"Identification of novel variants of <i>XPA</i> and <i>POLH/XPV</i> genes in xeroderma pigmentosum patients in Vietnam.","authors":"Thi Lan Anh Luong, Thu Lan Hoang, Duc Phan Tran, Thi Mai Le, Hien Tran, Phuong Thuy Ho, Huyen Nga Hoang, Hoa Giang, Duy Linh Vu, Nghi Huu Dinh, Manh Tan Nguyen, Huu Sau Nguyen","doi":"10.1080/17410541.2024.2393073","DOIUrl":"10.1080/17410541.2024.2393073","url":null,"abstract":"<p><p>Xeroderma pigmentosum (XP) disorder is recognized as a genetic condition inherited by autosomal recessive fashion. XP results from a defective DNA repair mechanism that significantly increases skin cancer risk. Fifteen Vietnamese patients were investigated with typical clinical manifestations of XP. Eight XP genes (<i>XPA</i> to <i>XPG</i> and <i>POLH</i>/<i>XPV</i>) were sequenced using peripheral blood samples. Overall, three novel variants on the <i>XPA</i> and <i>XPV</i> genes were detected in members of two families. One novel missense variant c.388A>G (p.R130G) of <i>XPA</i> was found in three patients with XP group A, two novel variants: c.680G>A (p.C227Y) and c.1652dupC (p.Gln553Profs*8) of <i>XPV</i> in one patient with XP group F/G. Our study contributes to the recognition of new mutations in XP patients which have not been reported in Human Gene Mutation Database (HGMD).</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"341-351"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142803948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Development of a computer-based tool to obtain a family health history in Vietnam. 开发基于计算机的工具，用于在越南获取家庭健康史。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-09-04 DOI: 10.1080/17410541.2024.2391728
Linh Ba Tieu, Vinh Nhu Nguyen, Phu Gia Tran, Hieu Minh Truong, Tuyet-Lan Thi Nguyen, Vu Quoc Huy Nguyen, Thi Minh Thi Ha, Nguyen Huu Nguyen, Y-Thanh Lu, Huong-Thao Xuan Tran, Quynh-Tho Thi Nguyen, Quynh Nhat Nguyen, Toan Thanh Le, Viet Hoang Truong, Minh Binh Bui, Dinh-Kiet Truong, Thanh-Thuy Thi Do, Hoai-Nghia Nguyen, Dieu Chan Quan, Hung-Sang Tang
{"title":"Development of a computer-based tool to obtain a family health history in Vietnam.","authors":"Linh Ba Tieu, Vinh Nhu Nguyen, Phu Gia Tran, Hieu Minh Truong, Tuyet-Lan Thi Nguyen, Vu Quoc Huy Nguyen, Thi Minh Thi Ha, Nguyen Huu Nguyen, Y-Thanh Lu, Huong-Thao Xuan Tran, Quynh-Tho Thi Nguyen, Quynh Nhat Nguyen, Toan Thanh Le, Viet Hoang Truong, Minh Binh Bui, Dinh-Kiet Truong, Thanh-Thuy Thi Do, Hoai-Nghia Nguyen, Dieu Chan Quan, Hung-Sang Tang","doi":"10.1080/17410541.2024.2391728","DOIUrl":"10.1080/17410541.2024.2391728","url":null,"abstract":"<p><p><b>Background:</b> Family health history (FHH) is central to human genomic profiling construction; however, there is no protocol for documenting FHH in a pedigree format in Vietnam.<b>Aim:</b> A \"Gia Su Suc Khoe\" (GSSK) tool was developed to create a user-friendly interface for collecting FHH and offering diseases' risk assessment.<b>Results:</b> A tool was described (https://giasusuckhoe.vn/) with good feedback from genetic counselors and family-medicine doctors. Among 20 surveys, 100% of respondents noted that the report accurately reflected their FHH and were satisfied with the tool's display. About 74% of familial conditions were covered. Overall, all constructive feedback has been adapted into the updated version.<b>Conclusion:</b> Gia Su Suc Khoe has the potential to significantly improve healthcare delivery and outcomes in Vietnam.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"271-276"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy and tolerability of capmatinib in a very elderly patient with metastatic NSCLC harboring a MET exon 14 mutation. 卡马替尼对一名携带 MET 第 14 号外显子突变的高龄转移性 NSCLC 患者的疗效和耐受性。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-07-03 DOI: 10.1080/17410541.2024.2369493
Nicole Conci, Virginia Marchiori, Alessandro Di Federico, Andrea De Giglio, Francesca Sperandi, Barbara Melotti, Francesco Gelsomino
{"title":"Efficacy and tolerability of capmatinib in a very elderly patient with metastatic NSCLC harboring a <i>MET</i> exon 14 mutation.","authors":"Nicole Conci, Virginia Marchiori, Alessandro Di Federico, Andrea De Giglio, Francesca Sperandi, Barbara Melotti, Francesco Gelsomino","doi":"10.1080/17410541.2024.2369493","DOIUrl":"10.1080/17410541.2024.2369493","url":null,"abstract":"<p><p>We report the case of an 87-year-old female patient who was diagnosed with metastatic non-small-cell lung cancer harboring <i>MET</i> exon 14 skipping mutation (<i>MET</i> ex14) and PD-L1 expression of 60%. A first-line treatment with atezolizumab was started with primary resistance. Then, a second-line treatment with capmatinib, a selective type Ib MET tyrosine kinase inhibitor, was started, achieving a partial response. The patient is still alive and on treatment with capmatinib 300 mg twice daily after 20 months, with a good tolerability and no evidence of disease progression.In summary, our patient experienced a long-lasting response (>18 months) with capmatinib as second-line treatment. Further analyses evaluating the efficacy and tolerability of MET tyrosine kinase inhibitors are warranted, especially in the elderly, a non-small-cell lung cancer population whose tumors could more frequently harbor <i>MET</i> ex14 mutation.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"205-209"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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