Kliniken & Institute ... Institute Pathologisches Institut... Abteilungen Angewandte... Forschung ... MSI-Diagnostik

Background

Diagnostics of MSI-H cancers is a field that rapidly gains clinical significance. It is very important to have simple, low-cost, and high-quality diagnostic tools to identify MSI-H, because (1) MSI-H cancer patients respond differently to chemotherapy and immune therapy and (2) MSI-H cancer patients may be affected by hereditary cancer predisposition.

What we do

Our group has analyzed molecular alterations occurring during MSI-H cancer development for their suitability as diagnostic markers. In collaboration with institutions and clinics at the Heidelberg University and abroad, we have established diagnostic tools for the immunohistochemical and PCR-based characterization of MSI-H cancers.

Achievements

Our main achievements in the diagnostics of MSI-H cancer have been (1) the identification of CAT25, a particularly sensitive and specific marker for PCR-based MSI analysis, (2) the evaluation of novel immunohistochemistry-based approaches (EPCAM staining, BRAF V600E staining) into the routine diagnostics for Lynch syndrome. The implementation of these approaches helps to obtain a more precise and effective work flow to identify patients with the most frequent inherited tumor syndrome.

Key publications

  • Warth A, Körner S, Penzel R, Muley T, Dienemann H, Schirmacher P, von Knebel-Doeberitz M, Weichert W, Kloor M. Microsatellite instability in pulmonary adenocarcinomas: a comprehensive study of 480 cases. Virchows Arch. 2016, 468 (3), 313-319
  • Tikidzhieva A, Benner A, Michel S, Formentini A, Link KH, Dippold W, von Knebel Doeberitz M, Kornmann M, Kloor M. Microsatellite instability and Beta2-Microglobulin mutations as prognostic markers in colon cancer: results ofthe FOGT-4 trial. Br J Cancer. 2012 Mar 13;106(6):1239-45.
  • Huth C, Kloor M, Voigt AY, Bozukova G, Evers C, Gaspar H, Tariverdian M, Schirmacher P, von Knebel Doeberitz M, Bläker H. The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors. Mod Pathol. 2012 Jun;25(6):911-6.
  • Kloor M, Voigt AY, Schackert HK, Schirmacher P, von Knebel Doeberitz M, Bläker H. Analysis of EPCAM Protein Expression in Diagnostics of Lynch Syndrome. J Clin Oncol.  2011 Jan 10;29(2):223-7. Epub 2010 Nov 29.