Clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panel
Central nervous system (CNS) metastasis is the most common brain tumor type in adults. Compared to their primary tumors, these metastases undergo a variety of genetic changes to be able to survive and thrive in the complex tissue microenvironment of the brain. In clinical settings, the majority of t...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-11-01
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| Series: | Frontiers in Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2022.947456/full |
| _version_ | 1811217004775866368 |
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| author | Duna H. Barakeh Duna H. Barakeh Ebtehal Alsolme Fatimah Alqubaishi Amal Almutairi Lamees Alhabeeb Lamees Alhabeeb Sally Al Abdulmohsen Shahd S. Almohsen Doaa Alayed Sara Rashid AlAnazi Malak AlZahrani Albandari Mohammed Binowayn Sarah S. AlOtaibi Fahad A. Alkhureeb Wafa Al Shakweer Hindi Al-Hindi Ali Alassiri Heather A. Robinson Malak Abedalthagafi Malak Abedalthagafi |
| author_facet | Duna H. Barakeh Duna H. Barakeh Ebtehal Alsolme Fatimah Alqubaishi Amal Almutairi Lamees Alhabeeb Lamees Alhabeeb Sally Al Abdulmohsen Shahd S. Almohsen Doaa Alayed Sara Rashid AlAnazi Malak AlZahrani Albandari Mohammed Binowayn Sarah S. AlOtaibi Fahad A. Alkhureeb Wafa Al Shakweer Hindi Al-Hindi Ali Alassiri Heather A. Robinson Malak Abedalthagafi Malak Abedalthagafi |
| author_sort | Duna H. Barakeh |
| collection | DOAJ |
| description | Central nervous system (CNS) metastasis is the most common brain tumor type in adults. Compared to their primary tumors, these metastases undergo a variety of genetic changes to be able to survive and thrive in the complex tissue microenvironment of the brain. In clinical settings, the majority of traditional chemotherapies have shown limited efficacy against CNS metastases. However, the discovery of potential driver mutations, and the development of drugs specifically targeting affected signaling pathways, could change the treatment landscape of CNS metastasis. Genetic studies of brain tumors have so far focused mainly on common cancers in western populations. In this study, we performed Next Generation Sequencing (NGS) on 50 pairs of primary tumors, including but not limited to colorectal, breast, renal and thyroid tumors, along with their brain metastatic tumor tissue counterparts, from three different local tertiary centers in Saudi Arabia. We identified potentially clinically relevant mutations in brain metastases that were not detected in corresponding primary tumors, including mutations in the PI3K, CDK, and MAPK pathways. These data highlight the differences between primary cancers and brain metastases and the importance of acquiring and analyzing brain metastatic samples for further clinical management. |
| first_indexed | 2024-04-12T06:46:43Z |
| format | Article |
| id | doaj.art-352dcf2738794604b935a1c0357bb48c |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-04-12T06:46:43Z |
| publishDate | 2022-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-352dcf2738794604b935a1c0357bb48c2022-12-22T03:43:30ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2022-11-01910.3389/fmed.2022.947456947456Clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panelDuna H. Barakeh0Duna H. Barakeh1Ebtehal Alsolme2Fatimah Alqubaishi3Amal Almutairi4Lamees Alhabeeb5Lamees Alhabeeb6Sally Al Abdulmohsen7Shahd S. Almohsen8Doaa Alayed9Sara Rashid AlAnazi10Malak AlZahrani11Albandari Mohammed Binowayn12Sarah S. AlOtaibi13Fahad A. Alkhureeb14Wafa Al Shakweer15Hindi Al-Hindi16Ali Alassiri17Heather A. Robinson18Malak Abedalthagafi19Malak Abedalthagafi20Department of Pathology, King Khalid University Hospital, King Saud University, Riyadh, Saudi ArabiaGenomics Research Department, King Fahad Medical City, Riyadh, Saudi ArabiaGenomics Research Department, King Fahad Medical City, Riyadh, Saudi ArabiaGenomics Research Department, King Fahad Medical City, Riyadh, Saudi ArabiaGenomics Research Department, King Fahad Medical City, Riyadh, Saudi ArabiaGenomics Research Department, King Fahad Medical City, Riyadh, Saudi ArabiaDepartment of Pathology, King Fahad Medical City, Riyadh, Saudi ArabiaGenomics Research Department, King Fahad Medical City, Riyadh, Saudi ArabiaDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaDepartment of Pathology, King Khalid University Hospital, King Saud University, Riyadh, Saudi ArabiaDepartment of Pathology, Security Forces Hospital, Riyadh, Saudi ArabiaDepartment of Pathology, King Khalid University Hospital, King Saud University, Riyadh, Saudi ArabiaGenomics Research Department, King Fahad Medical City, Riyadh, Saudi ArabiaGenomics Research Department, King Fahad Medical City, Riyadh, Saudi ArabiaDepartment of Pathology, King Fahad Medical City, Riyadh, Saudi ArabiaDepartment of Pathology, King Fahad Medical City, Riyadh, Saudi ArabiaDepartment of Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi ArabiaDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi ArabiaHealth Research, University of Manchester, Manchester, United KingdomGenomics Research Department, King Fahad Medical City, Riyadh, Saudi ArabiaDepartment of Pathology and Laboratory Medicine, Emory University Hospital, Atlanta, GA, United StatesCentral nervous system (CNS) metastasis is the most common brain tumor type in adults. Compared to their primary tumors, these metastases undergo a variety of genetic changes to be able to survive and thrive in the complex tissue microenvironment of the brain. In clinical settings, the majority of traditional chemotherapies have shown limited efficacy against CNS metastases. However, the discovery of potential driver mutations, and the development of drugs specifically targeting affected signaling pathways, could change the treatment landscape of CNS metastasis. Genetic studies of brain tumors have so far focused mainly on common cancers in western populations. In this study, we performed Next Generation Sequencing (NGS) on 50 pairs of primary tumors, including but not limited to colorectal, breast, renal and thyroid tumors, along with their brain metastatic tumor tissue counterparts, from three different local tertiary centers in Saudi Arabia. We identified potentially clinically relevant mutations in brain metastases that were not detected in corresponding primary tumors, including mutations in the PI3K, CDK, and MAPK pathways. These data highlight the differences between primary cancers and brain metastases and the importance of acquiring and analyzing brain metastatic samples for further clinical management.https://www.frontiersin.org/articles/10.3389/fmed.2022.947456/fullPI3KCDKbreast cancerbrain metastasiscomprehensive genomic panelcolorectal cancer |
| spellingShingle | Duna H. Barakeh Duna H. Barakeh Ebtehal Alsolme Fatimah Alqubaishi Amal Almutairi Lamees Alhabeeb Lamees Alhabeeb Sally Al Abdulmohsen Shahd S. Almohsen Doaa Alayed Sara Rashid AlAnazi Malak AlZahrani Albandari Mohammed Binowayn Sarah S. AlOtaibi Fahad A. Alkhureeb Wafa Al Shakweer Hindi Al-Hindi Ali Alassiri Heather A. Robinson Malak Abedalthagafi Malak Abedalthagafi Clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panel Frontiers in Medicine PI3K CDK breast cancer brain metastasis comprehensive genomic panel colorectal cancer |
| title | Clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panel |
| title_full | Clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panel |
| title_fullStr | Clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panel |
| title_full_unstemmed | Clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panel |
| title_short | Clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panel |
| title_sort | clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panel |
| topic | PI3K CDK breast cancer brain metastasis comprehensive genomic panel colorectal cancer |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2022.947456/full |
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