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Status: Bibliographieeintrag

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Verfasst von:Bochtler, Tilmann [VerfasserIn]   i
 Endris, Volker [VerfasserIn]   i
 Leichsenring, Jonas [VerfasserIn]   i
 Neumann, Olaf [VerfasserIn]   i
 Volckmar, Anna-Lena [VerfasserIn]   i
 Kirchner, Martina [VerfasserIn]   i
 Allgäuer, Michael [VerfasserIn]   i
 Schirmacher, Peter [VerfasserIn]   i
 Krämer, Alwin [VerfasserIn]   i
 Stenzinger, Albrecht [VerfasserIn]   i
Titel:Comparative genetic profiling aids diagnosis and clinical decision making in challenging cases of CUP syndrome
Verf.angabe:Tilmann Bochtler, Volker Endris, Jonas Leichsenring, Anna Reiling, Olaf Neumann, Anna-Lena Volckmar, Martina Kirchner, Michael Allgäuer, Peter Schirmacher, Alwin Krämer, Albrecht Stenzinger
E-Jahr:2019
Jahr:09 April 2019
Umfang:11 S.
Fussnoten:Gesehen am 29.10.2019
Titel Quelle:Enthalten in: International journal of cancer
Ort Quelle:Bognor Regis : Wiley-Liss, 1966
Jahr Quelle:2019
Band/Heft Quelle:145(2019), 11, Seite 2963-2973
ISSN Quelle:1097-0215
Abstract:Cancer of unknown primary (CUP) denotes cancer cases where metastatic spread is histologically confirmed, but no respective primary tumor can be identified. The challenging diagnosis of CUP is further complicated in cases with previously identified malignancies or with dubious clonal relationship between metastatic sites due to ambiguous histology. Our study aims at elucidating clonal relationships by comparing the respective mutational spectra. Targeted next-generation sequencing (NGS) employing formalin-fixed and paraffin-embedded (FFPE) tumor tissue was performed on 174 consecutive CUP patients. Among these, 43/174 (24.7%) patients had a documented prior malignancy. Data on pairwise targeted NGS testing to address clonal relationships between the previous malignancy and the presumed CUP (n = 11) or between different CUP metastatic sites (n = 7) was available in 18 patients. NGS could clarify clonal relationships in 16/18 cases. Among the 11 CUP patients with antecedent malignancies, four cases were clonally independent of the previous malignancy but harbored deleterious germline mutations in BRCA/BAP1/ATM genes. Seven CUP cases were clonally related to the antecedent malignancy, changing the CUP diagnosis to relapse of the prior malignancy. In the seven CUP cases, with doubtfully related metastatic sites, NGS confirmed clonal relationship in five cases and was inconclusive in two. In conclusion, NGS proved an efficient tool to elucidate clonal relationships in clinically challenging CUP cases. Our study cautions against a premature diagnosis of CUP. Relapses of antecedent malignancies should be carefully considered. CUPs clonally independent from the antecedent malignancy should raise a red flag of a potential cancer-predisposing germline mutation.
DOI:doi:10.1002/ijc.32316
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: https://doi.org/10.1002/ijc.32316
 Verlag: https://onlinelibrary.wiley.com/doi/abs/10.1002/ijc.32316
 DOI: https://doi.org/10.1002/ijc.32316
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:cancer of unknown primary
 clonal relationship
 germline mutation
 metastasis
 next-generation sequencing
K10plus-PPN:1680549669
Verknüpfungen:→ Zeitschrift

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