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.
Keywords: Appendiceal neoplasms; Colorectal carcinoma; Colorectal tumors; High-throughput nucleotide sequencing; Precision oncology.