Abstract
Abstract
Pancreatoblastoma (PB) is a rare tumor of the pancreas. In case of metastases, the treatment options are sparse and targeted approaches are not developed. We here evaluate MCL1 amplification as a putative target in PB.Thirteen samples from adult (10/13) and pediatric patients (3/13) were collected. Three of these samples had been previously subjected to whole-exome sequencing (2 cases) or whole-genome sequencing (1 case) within a precision oncology program (NCT/DKTK MASTER), and this analysis had shown copy number gains of MCL1 gene. We established a fluorescence in situ hybridization (FISH) test to assess the copy number alterations of MCL1 gene in 13 formalin-fixed paraffin-embedded PBs, including the 3 cases assessed by genome sequencing. FISH analysis showed the amplification of MCL1 in 2 cases (both were adult PB), one of which was a case with the highest copy number gain at genomic analysis. In both cases, the average gene copy number per cell was ≥ 5.7 and the MCL1/1p12 ratio was ≥ 2.4. Our data support MCL1 as a putative target in PB. Patients with MCL1-amplified PB might benefit from MCL1 inhibition. Sequencing data is useful to screen for amplification; however, the established FISH for MCL1 can help to determine the level and cellular heterogeneity of MCL1 amplification more accurately.
Funder
Deutsche Forschungsgemeinschaft
Deutschen Konsortium für Translationale Krebsforschung
Deutsche Krebshilfe
Wilhelm Sander-Stiftung
Deutsches Krebsforschungszentrum
Nationales Centrum für Tumorerkrankungen Heidelberg
Associazione Italiana per la Ricerca sul Cancro
Fondazione Cassa di Risparmio di Verona Vicenza Belluno e Ancona
Ministero della Salute
Universitätsklinikum Essen
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Molecular Biology,General Medicine,Pathology and Forensic Medicine
Cited by
3 articles.
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