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Low frequency of mismatch repair deficiency in gallbladder cancer

Goeppert, Benjamin ; Roessler, Stephanie ; Renner, Marcus ; Loeffler, Moritz ; Singer, Stephan ; Rausch, Melina ; Albrecht, Thomas ; Mehrabi, Arianeb ; Vogel, Monika Nadja ; Pathil, Anita ; Czink, Elena ; Köhler, Bruno ; Springfeld, Christoph ; Rupp, Christian ; Weiss, Karl Heinz ; Schirmacher, Peter ; von Knebel Doeberitz, Magnus ; Kloor, Matthias

In: Diagnostic pathology, 14 (2019), Nr. 36. pp. 1-6. ISSN 1746-1596

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Download (964kB) | Lizenz: Creative Commons LizenzvertragLow frequency of mismatch repair deficiency in gallbladder cancer by Goeppert, Benjamin ; Roessler, Stephanie ; Renner, Marcus ; Loeffler, Moritz ; Singer, Stephan ; Rausch, Melina ; Albrecht, Thomas ; Mehrabi, Arianeb ; Vogel, Monika Nadja ; Pathil, Anita ; Czink, Elena ; Köhler, Bruno ; Springfeld, Christoph ; Rupp, Christian ; Weiss, Karl Heinz ; Schirmacher, Peter ; von Knebel Doeberitz, Magnus ; Kloor, Matthias underlies the terms of Creative Commons Attribution 4.0

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Abstract

Background: DNA mismatch repair (MMR) deficiency is a major pathway of genomic instability in cancer. It leads to the accumulation of numerous mutations predominantly at microsatellite sequences, a phenotype known as microsatellite instability (MSI). MSI tumors have a distinct clinical behavior and commonly respond well to immune checkpoint blockade, irrespective of their origin. Data about the prevalence of MSI among gallbladder cancer (GBC) have been conflicting. We here analyzed a well-characterized cohort of 69 Western-world GBCs.

Methods: We analyzed the mononucleotide MSI marker panel consisting of BAT25, BAT26, and CAT25 to determine the prevalence of MMR deficiency-induced MSI.

Results: MSI was detected in 1/69 (1.4%) of analyzed GBCs. The detected MSI GBC had a classical histomorphology, i.e. of acinar/tubular/glandular pancreatobiliary phenotype, and showed nuclear expression of all four MMR proteins MLH1, MSH2, MSH6, and PMS2. The MSI GBC patient showed a prolonged overall survival, despite having a high tumor stage at diagnosis. The patient had no known background or family history indicative of Lynch syndrome.

Conclusions: Even though the overall number of MSI tumors is low in GBC, the potentially therapeutic benefit of checkpoint blockade in the respective patients may justify MSI analysis of GBC.

Document type: Article
Journal or Publication Title: Diagnostic pathology
Volume: 14
Number: 36
Publisher: BioMed Central
Place of Publication: London
Date Deposited: 01 Aug 2019 14:58
Date: 2019
ISSN: 1746-1596
Page Range: pp. 1-6
Faculties / Institutes: Medizinische Fakultät Heidelberg > Medizinische Universitäts-Klinik und Poliklinik
Medizinische Fakultät Heidelberg > Pathologisches Institut
Medizinische Fakultät Heidelberg > Thoraxklinik Heidelberg gGmbH
DDC-classification: 610 Medical sciences Medicine
Uncontrolled Keywords: Biliary tract cancer, Gallbladder cancer, DNA mismatch repair deficiency, Microsatellite instability
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