Targetable IDH1 mutation identified in a rare case of pancreatic serous cystadenocarcinoma but not a series of serous cystadenomas

Yuxi Zhang; Autumn Hammonds; Karen Tran-Harding; Kurt B Schaberg; Rashmi T Nair; Chi Wang; Yuanyuan Wu; Prakash K Pandalai; Jill Kolesar; Joseph Kim; Michael J Cavnar

doi:10.1093/jscr/rjac096

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Targetable IDH1 mutation identified in a rare case of pancreatic serous cystadenocarcinoma but not a series of serous cystadenomas

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Targetable IDH1 mutation identified in a rare case of pancreatic serous cystadenocarcinoma but not a series of serous cystadenomas

Yuxi Zhang, Autumn Hammonds, Karen Tran-Harding, Kurt B Schaberg, Rashmi T Nair, Chi Wang, Yuanyuan Wu, Prakash K Pandalai, Jill Kolesar, Joseph Kim, …

Journal of surgical case reports, Vol.2022(3), rjac096

03/01/2022

DOI: 10.1093/jscr/rjac096

PMCID: PMC8944732

PMID: 35350224

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Abstract

Abstract Serous cystadenocarcinoma (SCAC) of the pancreas is rare, with only 35 cases reported in the literature. We present a case of SCAC, comparing the clinical presentation, management and molecular features of this case to a series of serous cystadenoma (SCA), which may be a precursor. Compared with SCAs (n = 5), SCAC was larger (11.5 vs median 3.6 cm). The case of SCAC invaded the spleen and exhibited distant metastasis, a requirement for diagnosis since pathologic features are otherwise indistinguishable from SCA. VHL mutations have been reported in about half of SCA in the literature. Accordingly, we identified either somatic or germline VHL mutations in 3 of 5 SCAs (60%), yet no pathogenic mutation was identified in the SCAC. A somatic mutation in IDH1 was found in SCAC only. This has been associated with multiple malignancies, is targetable with the drug ivosidenib and should be studied as a progression factor in SCAC.

Details

Title: Subtitle: Targetable IDH1 mutation identified in a rare case of pancreatic serous cystadenocarcinoma but not a series of serous cystadenomas
Creators: Yuxi Zhang - University of Kentucky
Autumn Hammonds - University of Kentucky
Karen Tran-Harding - University of Kentucky
Kurt B Schaberg - University of Kentucky
Rashmi T Nair - University of Kentucky
Chi Wang - University of Kentucky
Yuanyuan Wu - Markey Cancer Center
Prakash K Pandalai - University of Kentucky
Jill Kolesar - University of Kentucky
Joseph Kim - University of Kentucky
Michael J Cavnar - University of Kentucky
Resource Type: Journal article
Publication Details: Journal of surgical case reports, Vol.2022(3), rjac096
DOI: 10.1093/jscr/rjac096
PMID: 35350224
PMCID: PMC8944732
ISSN: 2042-8812
eISSN: 2042-8812
Language: English
Date published: 03/01/2022
Academic Unit: Pharmacy; Pharmaceutical Sciences and Experimental Therapeutics
Record Identifier: 9984695788402771

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