Publication:
MCL1 as putative target in pancreatoblastoma

dc.contributor.coauthorReissig, Timm M.
dc.contributor.coauthorUhrig, Sebastian
dc.contributor.coauthorJost, Philipp J.
dc.contributor.coauthorLuchini, Claudio
dc.contributor.coauthorVicentini, Caterina
dc.contributor.coauthorLiffers, Sven-Thorsten
dc.contributor.coauthorAllgaeuer, Michael
dc.contributor.coauthorScarpa, Aldo
dc.contributor.coauthorLawlor, Rita Teresa
dc.contributor.coauthorFroehling, Stefan
dc.contributor.coauthorStenzinger, Albrecht
dc.contributor.coauthorKloeppel, Gunter
dc.contributor.coauthorSchildhaus, Hans-Ulrich
dc.contributor.coauthorSiveke, Jens T.
dc.contributor.departmentKUTTAM (Koç University Research Center for Translational Medicine)
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorAdsay, Nazmi Volkan
dc.contributor.schoolcollegeinstituteResearch Center
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:57:35Z
dc.date.issued2022
dc.description.abstractPancreatoblastoma (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.
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue2
dc.description.openaccessYES
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.sponsorshipOpen Access funding enabled and organized by Projekt DEAL. P.J.J. received grant support by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation SFB 1335 (Project-ID 360372040)). J.T.S. is supported by the German Cancer Consortium (DKTK), the Deutsche Forschungsgemeinschaft (DFG) through grant SI1549/3-1 (Clinical Research Unit KFO337) and SI1549/4-1, the German Cancer Aid (#70112505/PIPAC, #70113834/PREDICT-PACA), and the Wilhelm Sander-Stiftung (2019.008.1). The sequencing analyses were supported by the NCT Molecular Diagnostics Program and grant 021 from the DKFZ-Heidelberg Center for Personalized Oncology. The contribution from University and Hospital Trust of Verona is supported by the Associazione Italiana Ricerca sul Cancro (AIRC 5 x 1000 n. 12182), Fondazione Cariverona: Oncology Biobank Project "Antonio Schiavi" (prot. 203885/2017), Fondazione Italiana Malattie Pancreas (FIMP-Ministero Salute J38D19000690001), and Italian Ministry of Health (RF CO-2019-12369662: CUP: B39C21000370001).
dc.description.volume481
dc.identifier.doi10.1007/s00428-022-03349-w
dc.identifier.eissn1432-2307
dc.identifier.issn0945-6317
dc.identifier.quartileQ2
dc.identifier.scopus2-s2.0-85131453925
dc.identifier.urihttps://doi.org/10.1007/s00428-022-03349-w
dc.identifier.urihttps://hdl.handle.net/20.500.14288/15321
dc.identifier.wos806673800001
dc.keywordsMCL1
dc.keywordsAmplification
dc.keywordsFISH
dc.keywordsWhole-genome sequencing
dc.keywordsNCT Master
dc.keywordsPancreatoblastoma
dc.keywordsFGFR1 amplification
dc.language.isoeng
dc.publisherSPRINGER
dc.relation.ispartofVIRCHOWS ARCHIV
dc.subjectPathology
dc.titleMCL1 as putative target in pancreatoblastoma
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorAdsay, Nazmi Volkan
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1Research Center
local.publication.orgunit2KUTTAM (Koç University Research Center for Translational Medicine)
local.publication.orgunit2School of Medicine
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relation.isOrgUnitOfPublication.latestForDiscovery91bbe15d-017f-446b-b102-ce755523d939
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