Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans
| Autor: | Noah Nichols, Bríd M. Ryan, Daniel C. Edelman, John K. Simmons, Justin B. Lack, Elizabeth Weingartner, Adriana Zingone, Andrew T Girvin, Rony F. Arauz, Roxana A. Stefanescu, Sanju Sinha, Yuelin Jack Zhu, Jennifer Walling, Khadijah A. Mitchell, Elise D. Bowman, Wei Tang, Paul S. Meltzer, Holly S. Stevenson, Sharon R. Pine, Marbin Pineda, Joshua J. Waterfall, Emily L. Rossi |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty medicine.medical_treatment Science General Physics and Astronomy medicine.disease_cause Article General Biochemistry Genetics and Molecular Biology Targeted therapy 03 medical and health sciences 0302 clinical medicine Internal medicine Cancer genomics medicine Clinical significance lcsh:Science Lung cancer PTPRT Mutation Multidisciplinary business.industry Case-control study General Chemistry medicine.disease Clinical trial 030104 developmental biology 030220 oncology & carcinogenesis Adenocarcinoma lcsh:Q business |
| Zdroj: | Nature Communications, Vol 10, Iss 1, Pp 1-7 (2019) Nature Communications |
| ISSN: | 2041-1723 |
| Popis: | Reducing or eliminating persistent disparities in lung cancer incidence and survival has been challenging because our current understanding of lung cancer biology is derived primarily from populations of European descent. Here we show results from a targeted sequencing panel using NCI-MD Case Control Study patient samples and reveal a significantly higher prevalence of PTPRT and JAK2 mutations in lung adenocarcinomas among African Americans compared with European Americans. This increase in mutation frequency was validated with independent WES data from the NCI-MD Case Control Study and TCGA. We find that patients carrying these mutations have a concomitant increase in IL-6/STAT3 signaling and miR-21 expression. Together, these findings suggest the identification of these potentially actionable mutations could have clinical significance for targeted therapy and the enrollment of minority populations in clinical trials. Lung cancer etiology has largely been studied in homogenous populations of European descent. Here, targeted sequencing in African American lung adenocarcinomas finds significantly higher prevalence of PTPRTand JAK2 mutations, validated independently by whole exome sequencing, highlighting potentially clinically actionable mutations in this population. |
| Databáze: | OpenAIRE |
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