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Status: Bibliographieeintrag

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Verfasst von:Thierauf, Julia [VerfasserIn]   i
 Heß, Jochen [VerfasserIn]   i
Titel:Clinically integrated molecular diagnostics in adenoid cystic carcinoma
Verf.angabe:Julia Thierauf, Nisha Ramamurthy, Vickie Y. Jo, Hayley Robinson, Ryan P. Frazier, Jonathan Gonzalez, Maciej Pacula, Enrique Dominguez Meneses, Vania Nose, Valentina Nardi, Dora Dias‐Santagata, Long P. Le, Derrick T. Lin, William C. Faquin, Lori J. Wirth, Jochen Hess, A. John Iafrate, Jochen K. Lennerz
E-Jahr:2019
Jahr:March 29, 2019
Umfang:12 S.
Illustrationen:Illustrationen
Fussnoten:Gesehen am 20.12.2019
Titel Quelle:Enthalten in: The oncologist
Ort Quelle:Hoboken, NJ : Wiley, 1996
Jahr Quelle:2019
Band/Heft Quelle:24(2019), 10, Seite 1356-1367
ISSN Quelle:1549-490X
Abstract:Background. Adenoid cystic carcinoma (ACC) is an aggressive salivary gland malignancy without effective systemic therapies. Delineation of molecular profiles in ACC has led to an increased number of biomarker‐stratified clinical trials; however, the clinical utility and U.S.‐centric financial sustainability of integrated next‐generation sequencing (NGS) in routine practice has, to our knowledge, not been assessed. - Materials and Methods. In our practice, NGS genotyping was implemented at the discretion of the primary clinician. We combined NGS‐based mutation and fusion detection, with MYB break‐apart fluorescent in situ hybridization (FISH) and MYB immunohistochemistry. Utility was defined as the fraction of patients with tumors harboring alterations that are potentially amenable to targeted therapies. Financial sustainability was assessed using the fraction of global reimbursement. - Results. Among 181 consecutive ACC cases (2011-2018), prospective genotyping was performed in 11% (n = 20/181; n = 8 nonresectable). Testing identified 5/20 (25%) NOTCH1 aberrations, 6/20 (30%) MYB‐NFIB fusions (all confirmed by FISH), and 2/20 (10%) MYBL1‐NFIB fusions. Overall, these three alterations (MYB/MYBL1/NOTCH1) made up 65% of patients, and this subset had a more aggressive course with significantly shorter progression‐free survival. In 75% (n = 6/8) of nonresectable patients, we detected potentially actionable alterations. Financial analysis of the global charges, including NGS codes, indicated 63% reimbursement, which is in line with national (U.S.‐based) and international levels of reimbursement. - Conclusion. Prospective routine clinical genotyping in ACC can identify clinically relevant subsets of patients and is approaching financial sustainability. Demonstrating clinical utility and financial sustainability in an orphan disease (ACC) requires a multiyear and multidimensional program. - Implications for Practice. Delineation of molecular profiles in adenoid cystic carcinoma (ACC) has been accomplished in the research setting; however, the ability to identify relevant patient subsets in clinical practice has not been assessed. This work presents an approach to perform integrated molecular genotyping of patients with ACC with nonresectable, recurrent, or systemic disease. It was determined that 75% of nonresectable patients harbor potentially actionable alterations and that 63% of charges are reimbursed. This report outlines that orphan diseases such as ACC require a multiyear, multidimensional program to demonstrate utility in clinical practice.
DOI:doi:10.1634/theoncologist.2018-0515
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext ; Verlag: https://doi.org/10.1634/theoncologist.2018-0515
 Volltext: http://theoncologist.alphamedpress.org/content/24/10/1356
 DOI: https://doi.org/10.1634/theoncologist.2018-0515
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:Adenoid cystic carcinoma
 Molecular diagnostics
 MYB
 NOTCH1
 Salivary glands
K10plus-PPN:168625587X
Verknüpfungen:→ Zeitschrift

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