دورية أكاديمية
أعرض في EDS

Comparative Genomic Analysis of Intrahepatic Cholangiocarcinoma: Biopsy Type, Ancestry, and Testing Patterns.

التفاصيل البيبلوغرافية
العنوان: Comparative Genomic Analysis of Intrahepatic Cholangiocarcinoma: Biopsy Type, Ancestry, and Testing Patterns.
المؤلفون: Israel MA; Foundation Medicine Inc., Cambridge, Massachusetts, USA., Danziger N; Foundation Medicine Inc., Cambridge, Massachusetts, USA., McGregor KA; Foundation Medicine Inc., Cambridge, Massachusetts, USA., Murugesan K; Foundation Medicine Inc., Cambridge, Massachusetts, USA., Gjoerup O; Foundation Medicine Inc., Cambridge, Massachusetts, USA., Sokol ES; Foundation Medicine Inc., Cambridge, Massachusetts, USA., Tukachinsky H; Foundation Medicine Inc., Cambridge, Massachusetts, USA., Kurzrock R; Center for Personalized Cancer Therapy and Division of Hematology and Oncology, Department of Medicine, University of California, San Diego Moores Cancer Center, La Jolla, California, USA.; Department of Medicine, Division of Hematology and Oncology, University of California, San Diego, San Diego, California, USA., Kato S; Center for Personalized Cancer Therapy and Division of Hematology and Oncology, Department of Medicine, University of California, San Diego Moores Cancer Center, La Jolla, California, USA.; Department of Medicine, Division of Hematology and Oncology, University of California, San Diego, San Diego, California, USA., Sicklick JK; Center for Personalized Cancer Therapy and Division of Hematology and Oncology, Department of Medicine, University of California, San Diego Moores Cancer Center, La Jolla, California, USA.; Department of Surgery, Division of Surgical Oncology, University of California, San Diego, San Diego, California, USA., Nimeiri HS; Foundation Medicine Inc., Cambridge, Massachusetts, USA., Oxnard GR; Foundation Medicine Inc., Cambridge, Massachusetts, USA., Ross JS; Foundation Medicine Inc., Cambridge, Massachusetts, USA.; Departments of Urology and Pathology, SUNY Upstate Medical University, Syracuse, New York, USA.
المصدر: The oncologist [Oncologist] 2021 Sep; Vol. 26 (9), pp. 787-796. Date of Electronic Publication: 2021 Jun 18.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9607837 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-490X (Electronic) Linking ISSN: 10837159 NLM ISO Abbreviation: Oncologist Subsets: MEDLINE
أسماء مطبوعة: Publication: 2022- : Oxford : Oxford University Press
Original Publication: Dayton, Ohio : AlphaMed Press, c1996-
مواضيع طبية MeSH: Bile Duct Neoplasms*/diagnosis , Bile Duct Neoplasms*/genetics , Cholangiocarcinoma*/diagnosis , Cholangiocarcinoma*/genetics, Bile Ducts, Intrahepatic ; Biopsy ; Genomics ; Humans
مستخلص: Background: At diagnosis, the majority of patients with intrahepatic cholangiocarcinoma (IHCC) present with advanced disease and a poor prognosis. Comprehensive genomic profiling (CGP) early in the disease course may increase access to targeted therapies and clinical trials; however, unresolved issues remain surrounding the optimal biopsy type to submit for CGP.
Patients and Methods: Mutational frequencies between primary tumor biopsies (Pbx), metastatic biopsies (Mbx), and liquid biopsies (Lbx) in 1,632 patients with IHCC were compared.
Results: Potentially actionable alterations were found in 52%, 34%, and 35% of patients in the Pbx, Mbx, and Lbx cohorts, respectively. In Pbx, Mbx, and Lbx, FGFR2 rearrangements were found in 9%, 6%, and 4%, and IDH1 mutations were identified in 16%, 5%, and 9% patients, respectively. Moreover, alterations in FGFR2 and IDH1 were significantly associated with distinct ancestries, including 2.1-fold enrichment for FGFR2 rearrangements in patients with African ancestry and 1.5-fold enrichment for IDH1 mutations in patients with admixed American (Hispanic) ancestry. Finally, the publication of biomarker-driven clinical trials in IHCC correlated with changing CGP testing patterns. Significant correlations between patient characteristics and IHCC trial disclosures were observed, including a significant decrease from time between biopsy and CGP testing, and more frequent testing of primary versus metastatic samples.
Conclusion: Overall, because of the high likelihood of identifying actionable genomic alterations, CGP should be considered for the majority of patients with inoperable IHCC, and Lbx and Mbx can be considered as part of the diagnostic suite.
Implications for Practice: Comprehensive genomic profiling (CGP) should be considered for all patients with intrahepatic cholangiocarcinoma (IHCC) or suspected IHCC, as actionable alterations were commonly found in multiple genes and a wide variety of FGFR2 fusion partners were identified. The disclosure of IHCC trial data correlated with increased use of CGP, an encouraging trend that moves new therapeutic options forward for rare cancers with a rare biomarker. Although tissue from the primary lesion may identify actionable alterations at higher rates, CGP of a liquid biopsy or metastatic site can be considered, particularly if the primary tissue block is exhausted.
(© 2021 AlphaMed Press.)
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فهرسة مساهمة: Keywords: Bile duct neoplasms; Comparative genomics; Intrahepatic cholangiocarcinoma; Liquid biopsy
تواريخ الأحداث: Date Created: 20210603 Date Completed: 20210928 Latest Revision: 20230920
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC8417854
DOI: 10.1002/onco.13844
PMID: 34080753
قاعدة البيانات: MEDLINE
الوصف
تدمد:1549-490X
DOI:10.1002/onco.13844