Array based Copy number variations (aCNV) are able to differ classes in endometrial carcinoma

Introduction:

Endometrial carcinoma (EmCa) was classified into four different classes, due to its molecular genetic mutation pattern, this probably replace the actual histological differentiation between Type 1 and Type 2 in clinical applications. In order to classify EmCa extensive sequencing of minimum twenty genes and recording of micro satellite stability is required. We tested the capability of micro array based comparison genome hybridization (aCGH) to differentiate EmCa.

Material and Methods:

We collected 24 EmCa samples from Universities Greifswald and Kiel and Institute of Hematopathology in Hamburg as formalin-fixed paraffin-embedded tissue (FFPE) or fresh tissue. Fifteen of these probes are endometrioid-like (Type1) and nine are non endometrioid-like (Type 2). We used microarrays optimized in design by oxford gene technology (OGT, Begbroke, UK) with increased resolution of the same relevant genes as used for sequencing of molecular genetic mutation pattern in EmCa.

Results:

We detected fourteen EmCa with imbalances in POLE, four cases with imbalances in TP53 but not in POLE and six EmCa without imbalances in both, TP53 and POLE. Half (2/2) of the EmCa with imbalances in TP53 but not in POLE were classified as non endometrioid-like type-2 by histopathology. 71% (10/14) of the EmCa with imbalances in POLE were classified as endometrioidlike type-1.

Discussion:

These first results cherish hopes to classify EmCa by aCGH in future as a less extensive tool than panel sequencing does. In order to judge the informative value of classification by aCGH in comparison with panel-sequencing we are actually judging both techniques at the same EmCa-cases.