Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-7507
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dc.contributor.authorGerber, Tiemo S.-
dc.contributor.authorAgaimy, Abbas-
dc.contributor.authorHartmann, Arndt-
dc.contributor.authorHabekost, Michael-
dc.contributor.authorRoth, Wilfried-
dc.contributor.authorStenzinger, Albrecht-
dc.contributor.authorSchirmacher, Peter-
dc.contributor.authorStraub, Beate K.-
dc.date.accessioned2022-08-02T08:42:57Z-
dc.date.available2022-08-02T08:42:57Z-
dc.date.issued2021-
dc.identifier.urihttps://openscience.ub.uni-mainz.de/handle/20.500.12030/7521-
dc.description.abstractBackground Undifferentiated carcinoma of the biliary tract are highly aggressive malignancies. In other organs, a subgroup of undifferentiated carcinoma related to SWI/SNF complex–deficiency have been described. Case presentation A 30-year-old woman presented with rising inflammatory markers (C-reactive protein (CRP)). Ultrasound examination revealed a large tumor of the liver. A computed tomography scan was performed and was primarily interpreted as a tumor-forming liver abscess, possibly caused by gallbladder perforation. Subsequent liver segment resection was performed. Microscopic examination showed an undifferentiated carcinoma with rhabdoid morphology and prominent inflammatory infiltrate in the gallbladder base. With SWI/SNF immunohistochemistry, intact expression of SMARCB1, SMARCA4, ARID1A, but loss of SMARCA2 and PBRM1 was detected. Next-generation-sequencing detected KRAS, PBRM1 and ARID1B mutations, a deleterious splice-site mutation in the POLE-gene and a mutation in the TP53-gene. Conclusions We were able to demonstrate loss of SMARCA2 expression and mutations characteristic of an SWI/SNF-deficient carcinoma in a tumor derived from the gallbladder. This is the first reported case of an undifferentiated carcinoma with rhabdoid features in the gallbladder carrying a POLE mutation and SWI/SNF-deficiency of PBRM1 and SMARCA2.en_GB
dc.language.isoengde
dc.rightsCC BY*
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subject.ddc610 Medizinde_DE
dc.subject.ddc610 Medical sciencesen_GB
dc.titleSWI/SNF-deficient undifferentiated/rhabdoid carcinoma of the gallbladder carrying a POLE mutation in a 30-year-old woman : a case reporten_GB
dc.typeZeitschriftenaufsatzde
dc.identifier.doihttp://doi.org/10.25358/openscience-7507-
jgu.type.dinitypearticleen_GB
jgu.type.versionPublished versionde
jgu.type.resourceTextde
jgu.organisation.departmentFB 04 Medizinde
jgu.organisation.number2700-
jgu.organisation.nameJohannes Gutenberg-Universität Mainz-
jgu.rights.accessrightsopenAccess-
jgu.journal.titleDiagnostic pathologyde
jgu.journal.volume16de
jgu.pages.alternative52de
jgu.publisher.year2021-
jgu.publisher.nameBioMed Centralde
jgu.publisher.issn1746-1596de
jgu.organisation.placeMainz-
jgu.subject.ddccode610de
jgu.publisher.doi10.1186/s13000-021-01112-4de
jgu.organisation.rorhttps://ror.org/023b0x485-
Appears in collections:JGU-Publikationen

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