Harry E Fuentes Bayne, Pashtoon M Kasi, Li Ma, Lowell L Hart, Jenna Wong, David R Spigel, Catherine A Schnabel, James A Reeves, Thorvardur R Halfdanarson, Kai Treuner, F Anthony Greco
{"title":"通过整合 92 基因检测的癌症分子分类和肿瘤图谱，为不明原发性癌症患者提供个性化治疗选择。","authors":"Harry E Fuentes Bayne, Pashtoon M Kasi, Li Ma, Lowell L Hart, Jenna Wong, David R Spigel, Catherine A Schnabel, James A Reeves, Thorvardur R Halfdanarson, Kai Treuner, F Anthony Greco","doi":"10.1200/PO.24.00191","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Cancer of unknown primary (CUP) is a syndrome comprising metastatic cancers without a clinically identified primary site. Although patients with CUP have an unfavorable prognosis, treatment with site-specific therapies guided by clinical features, standard pathology, and molecular assays can improve overall survival. The 92-gene assay (CancerTYPE ID) is a gene expression-based classifier that helps identify the tissue of origin for metastatic cancers with unknown or uncertain diagnoses. This study reports the frequency of selected molecular aberrations of oncogenes, including <i>KRAS</i>, <i>IDH1/2</i>, <i>BRCA1/2</i>, and <i>BRAF</i>, in patients with CUP in the MOSAIC database to highlight potential treatment options.</p><p><strong>Methods: </strong>MOSAIC is a database of patients with CUP submitted for CancerTYPE ID testing and NeoTYPE biomarker testing. Tumor biopsy samples were analyzed by CancerTYPE ID for tumor type identification and further tested for molecular aberrations of oncogenes, including <i>KRAS</i>, <i>IDH1/2</i>, <i>BRCA1/2</i>, and <i>BRAF</i>.</p><p><strong>Results: </strong>CancerTYPE ID identified a specific tumor type in 92.5% (2,929 of 3,168) of CUP cases in the MOSAIC database. The most commonly identified histological type was adenocarcinoma (75.4%), with pancreaticobiliary being the most common molecularly diagnosed cancer (24.9%). Aberrations in <i>KRAS</i>, <i>IDH1/2</i>, <i>BRCA</i>, and <i>BRAF</i> genes were identified in 18.8% (n = 597) of biopsies. A cancer-specific US Food and Drug Administration (FDA)-approved or investigational targeted therapy was potentially available for 24.6% (n = 147) of these patients.</p><p><strong>Conclusion: </strong>This retrospective analysis supports incorporating CancerTYPE ID into the evaluation for patients with CUP to help determine the tissue of origin and identify actionable genetic alterations. This approach may allow more patients with CUP to benefit from site-specific FDA-approved targeted therapies or enrollment into clinical trials.</p>","PeriodicalId":14797,"journal":{"name":"JCO precision oncology","volume":null,"pages":null},"PeriodicalIF":5.3000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11382827/pdf/","citationCount":"0","resultStr":"{\"title\":\"Personalized Therapy Selection by Integration of Molecular Cancer Classification by the 92-Gene Assay and Tumor Profiling in Patients With Cancer of Unknown Primary.\",\"authors\":\"Harry E Fuentes Bayne, Pashtoon M Kasi, Li Ma, Lowell L Hart, Jenna Wong, David R Spigel, Catherine A Schnabel, James A Reeves, Thorvardur R Halfdanarson, Kai Treuner, F Anthony Greco\",\"doi\":\"10.1200/PO.24.00191\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>Cancer of unknown primary (CUP) is a syndrome comprising metastatic cancers without a clinically identified primary site. Although patients with CUP have an unfavorable prognosis, treatment with site-specific therapies guided by clinical features, standard pathology, and molecular assays can improve overall survival. The 92-gene assay (CancerTYPE ID) is a gene expression-based classifier that helps identify the tissue of origin for metastatic cancers with unknown or uncertain diagnoses. This study reports the frequency of selected molecular aberrations of oncogenes, including <i>KRAS</i>, <i>IDH1/2</i>, <i>BRCA1/2</i>, and <i>BRAF</i>, in patients with CUP in the MOSAIC database to highlight potential treatment options.</p><p><strong>Methods: </strong>MOSAIC is a database of patients with CUP submitted for CancerTYPE ID testing and NeoTYPE biomarker testing. Tumor biopsy samples were analyzed by CancerTYPE ID for tumor type identification and further tested for molecular aberrations of oncogenes, including <i>KRAS</i>, <i>IDH1/2</i>, <i>BRCA1/2</i>, and <i>BRAF</i>.</p><p><strong>Results: </strong>CancerTYPE ID identified a specific tumor type in 92.5% (2,929 of 3,168) of CUP cases in the MOSAIC database. The most commonly identified histological type was adenocarcinoma (75.4%), with pancreaticobiliary being the most common molecularly diagnosed cancer (24.9%). Aberrations in <i>KRAS</i>, <i>IDH1/2</i>, <i>BRCA</i>, and <i>BRAF</i> genes were identified in 18.8% (n = 597) of biopsies. A cancer-specific US Food and Drug Administration (FDA)-approved or investigational targeted therapy was potentially available for 24.6% (n = 147) of these patients.</p><p><strong>Conclusion: </strong>This retrospective analysis supports incorporating CancerTYPE ID into the evaluation for patients with CUP to help determine the tissue of origin and identify actionable genetic alterations. 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引用次数: 0
摘要
目的：原发性不明癌症（CUP）是一种由转移性癌症组成的综合征，临床上无法确定其原发部位。虽然 CUP 患者预后不良，但在临床特征、标准病理学和分子检测的指导下采用特定部位疗法可提高总生存率。92 个基因检测（CancerTYPE ID）是一种基于基因表达的分类器，有助于确定诊断不明或不确定的转移性癌症的原发组织。本研究报告了MOSAIC数据库中CUP患者的部分癌基因分子畸变频率，包括KRAS、IDH1/2、BRCA1/2和BRAF，以突出潜在的治疗方案：MOSAIC是一个CUP患者数据库，这些患者已提交CancerTYPE ID检测和NeoTYPE生物标记物检测。通过CancerTYPE ID分析肿瘤活检样本以确定肿瘤类型，并进一步检测KRAS、IDH1/2、BRCA1/2和BRAF等癌基因的分子畸变：CancerTYPE ID 在 MOSAIC 数据库中 92.5% 的 CUP 病例（3168 例中的 2929 例）中识别出了特定的肿瘤类型。最常见的组织学类型是腺癌（75.4%），胰胆管癌是最常见的分子诊断癌症（24.9%）。在18.8%（n = 597）的活检中发现了KRAS、IDH1/2、BRCA和BRAF基因的畸变。这些患者中有 24.6%（n = 147）可能接受了美国食品药品管理局（FDA）批准的癌症特异性靶向治疗或研究性靶向治疗：这项回顾性分析支持将 CancerTYPE ID 纳入 CUP 患者的评估中，以帮助确定原发组织并识别可操作的基因改变。这种方法可以让更多的 CUP 患者从 FDA 批准的特定部位靶向疗法或临床试验中获益。
Personalized Therapy Selection by Integration of Molecular Cancer Classification by the 92-Gene Assay and Tumor Profiling in Patients With Cancer of Unknown Primary.
Purpose: Cancer of unknown primary (CUP) is a syndrome comprising metastatic cancers without a clinically identified primary site. Although patients with CUP have an unfavorable prognosis, treatment with site-specific therapies guided by clinical features, standard pathology, and molecular assays can improve overall survival. The 92-gene assay (CancerTYPE ID) is a gene expression-based classifier that helps identify the tissue of origin for metastatic cancers with unknown or uncertain diagnoses. This study reports the frequency of selected molecular aberrations of oncogenes, including KRAS, IDH1/2, BRCA1/2, and BRAF, in patients with CUP in the MOSAIC database to highlight potential treatment options.
Methods: MOSAIC is a database of patients with CUP submitted for CancerTYPE ID testing and NeoTYPE biomarker testing. Tumor biopsy samples were analyzed by CancerTYPE ID for tumor type identification and further tested for molecular aberrations of oncogenes, including KRAS, IDH1/2, BRCA1/2, and BRAF.
Results: CancerTYPE ID identified a specific tumor type in 92.5% (2,929 of 3,168) of CUP cases in the MOSAIC database. The most commonly identified histological type was adenocarcinoma (75.4%), with pancreaticobiliary being the most common molecularly diagnosed cancer (24.9%). Aberrations in KRAS, IDH1/2, BRCA, and BRAF genes were identified in 18.8% (n = 597) of biopsies. A cancer-specific US Food and Drug Administration (FDA)-approved or investigational targeted therapy was potentially available for 24.6% (n = 147) of these patients.
Conclusion: This retrospective analysis supports incorporating CancerTYPE ID into the evaluation for patients with CUP to help determine the tissue of origin and identify actionable genetic alterations. This approach may allow more patients with CUP to benefit from site-specific FDA-approved targeted therapies or enrollment into clinical trials.
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