M Jesinghaus1. 1. Institut für Allgemeine Pathologie und Pathologische Anatomie, Technische Universität München, Trogerstraße 18, 81675, München, Deutschland. moritz.jesinghaus@tum.de.
Abstract
BACKGROUND: Besides the classical histopathological examination, molecular characterization approaches are moving more and more into the center of clinical pathology. The association of tumors with distinct morphological features with specific molecular alterations can either help to underline a certain histologic diagnosis or to identify alterations that may serve as potential molecular targets. OBJECTIVES: The aim of the presented studies was the morphomolecular characterization of colorectal neoplasias with either a distinct morphology or in specific clinical settings. MATERIALS AND METHODS: Targeted massive parallel sequencing (MPS) of various colorectal neoplasias was performed in all of the presented studies. RESULTS: Our studies showed the clinical utility of MPS for routine molecular diagnostics of colorectal carcinoma (CRC) in different clinical settings. In addition, we were able to demonstrate a close genetic relationship of colorectal adenoneuroendocrine carcinomas with classical CRC as well as a distinct genetic profile for appendiceal goblet cell neoplasias. CONCLUSIONS: Morphomolecular characterization approaches not only enable the identification of potentially therapeutically relevant alterations, but also allow for the specific identification of morphologically distinct subtypes of colorectal neoplasias, which may be of diagnostic usefulness.
BACKGROUND: Besides the classical histopathological examination, molecular characterization approaches are moving more and more into the center of clinical pathology. The association of tumors with distinct morphological features with specific molecular alterations can either help to underline a certain histologic diagnosis or to identify alterations that may serve as potential molecular targets. OBJECTIVES: The aim of the presented studies was the morphomolecular characterization of colorectal neoplasias with either a distinct morphology or in specific clinical settings. MATERIALS AND METHODS: Targeted massive parallel sequencing (MPS) of various colorectal neoplasias was performed in all of the presented studies. RESULTS: Our studies showed the clinical utility of MPS for routine molecular diagnostics of colorectal carcinoma (CRC) in different clinical settings. In addition, we were able to demonstrate a close genetic relationship of colorectal adenoneuroendocrine carcinomas with classical CRC as well as a distinct genetic profile for appendiceal goblet cell neoplasias. CONCLUSIONS: Morphomolecular characterization approaches not only enable the identification of potentially therapeutically relevant alterations, but also allow for the specific identification of morphologically distinct subtypes of colorectal neoplasias, which may be of diagnostic usefulness.
Authors: Jean-Yves Douillard; Kelly S Oliner; Salvatore Siena; Josep Tabernero; Ronald Burkes; Mario Barugel; Yves Humblet; Gyorgy Bodoky; David Cunningham; Jacek Jassem; Fernando Rivera; Ilona Kocákova; Paul Ruff; Maria Błasińska-Morawiec; Martin Šmakal; Jean Luc Canon; Mark Rother; Richard Williams; Alan Rong; Jeffrey Wiezorek; Roger Sidhu; Scott D Patterson Journal: N Engl J Med Date: 2013-09-12 Impact factor: 91.245
Authors: Moritz Jesinghaus; Nicole Pfarr; Matthias Kloor; Volker Endris; Luca Tavernar; Alexander Muckenhuber; Magnus von Knebel Doeberitz; Roland Penzel; Wilko Weichert; Albrecht Stenzinger Journal: Genes Chromosomes Cancer Date: 2015-12-09 Impact factor: 5.006
Authors: Moritz Jesinghaus; Björn Konukiewitz; Sebastian Foersch; Albrecht Stenzinger; Katja Steiger; Alexander Muckenhuber; Claudia Groß; Martin Mollenhauer; Wilfried Roth; Sönke Detlefsen; Wilko Weichert; Günter Klöppel; Nicole Pfarr; Anna Melissa Schlitter Journal: Mod Pathol Date: 2018-01-12 Impact factor: 7.842
Authors: Rafael G Amado; Michael Wolf; Marc Peeters; Eric Van Cutsem; Salvatore Siena; Daniel J Freeman; Todd Juan; Robert Sikorski; Sid Suggs; Robert Radinsky; Scott D Patterson; David D Chang Journal: J Clin Oncol Date: 2008-03-03 Impact factor: 44.544