Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

The Advantages of NGS Molecular Classification in Endometrial Cancer Diagnosis

Daniela Rivera
*,# ORCID logo ,
Michele Paudice
# ORCID logo ,
Giulia Accorsi
,
Floriana Valentino
,
Marta Ingaliso
,
Ada Pianezzi
,
Paola Roggieri
,
Lucia Trevisan
,
Giulia Buzzatti
,
Serafina Mammoliti
ORCID logo ,
Fabio Barra
ORCID logo ,
Simone Ferrero
ORCID logo ,
Gabriella Cirmena
,
Viviana Gismondi
§ ,
Valerio Gaetano Vellone
§ ORCID logo
#
These authors equally contributed to this work and share senior authorship
§
These authors equally contributed to this work and share senior authorship
Version 1 : Received: 28 July 2023 / Approved: 31 July 2023 / Online: 31 July 2023 (10:25:29 CEST)

A peer-reviewed article of this Preprint also exists.

Rivera, D.; Paudice, M.; Accorsi, G.; Valentino, F.; Ingaliso, M.; Pianezzi, A.; Roggieri, P.; Trevisan, L.; Buzzatti, G.; Mammoliti, S.; Barra, F.; Ferrero, S.; Cirmena, G.; Gismondi, V.; Vellone, V.G. The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis. J. Clin. Med. 2023, 12, 7236. Rivera, D.; Paudice, M.; Accorsi, G.; Valentino, F.; Ingaliso, M.; Pianezzi, A.; Roggieri, P.; Trevisan, L.; Buzzatti, G.; Mammoliti, S.; Barra, F.; Ferrero, S.; Cirmena, G.; Gismondi, V.; Vellone, V.G. The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis. J. Clin. Med. 2023, 12, 7236.

Abstract

Endometrial cancer (EC) is the most frequent gynaecological malignancy. The ESGO/ESTRO/ESP 2020 guidelines identify prognostic groups based on morpho-molecular characteristics. This study aims to evaluate the clinical applicability of NGS analysis to define an appropriate risk class and application for a better diagnostic and prognostic stratification of ECs. Cases of serous carcinoma (OHEC), high (HGEC) and low (LGEC) grade endometrioid carcinoma diagnosed with the morphological and immunohistochemical (IHC) protocols were considered. After a standardized pre-analytical phase, the tumor DNA was semi-automatically extracted and analyzed by NGS with a panel of 14 genes. A total of 63 cases were considered. NGS analysis was successful in 60 cases; all of these were classified according to the new diagnostic algorithm. The molecular risk classification showed a good correlation with the morphological (k=0.8). The study showed that the protocols of the pre-analytical and analytical phases used are robust and can lead to molecular results that fall within the standards required for use in clinical practice for a more precise diagnostic-therapeutic management of patients. The implementation of the classification is particularly relevant for better prognostic stratification of HGECs. In addition, the identification of a suspicious VUS in POLE questions the classification of truncating variants.

Keywords

Endometrial Cancer (EC); Multigene-NGS panel; POLE; TP53

Subject

Medicine and Pharmacology, Oncology and Oncogenics

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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