Uterine Mesenchymal Tumors - Updates on Pathology, Molecular Landscape, and Therapeutics

Sep 21, 2026

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Mesenchymal uterine tumors represent a heterogeneous set of neoplasms with diverse biological behavior. Overlapping morphology and immunohistochemical patterns can limit the conclusiveness of histomorphologic diagnosis and complicate precise categorization. Over the past decade, rapid growth of molecular datasets has enabled more accurate characterization and, in turn, improved treatment strategies. This narrative review summarizes pathology, genetic advances, and emerging therapeutic approaches for primary uterine mesenchymal neoplasms.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages19

Reading Time48 min

AccessFree to download

Introduction

Uterine leiomyosarcomas (ULMs) overview

Pathological features

Molecular events in mesenchymal uterine tumors (Table 1)

Pathology and molecular landscape

Diagnostic challenges and classification

Therapeutic avenues

Emerging treatments and theragnostic potential

medicina Review Uterine Mesenchymal Tumors: Updates on Pathology, Molecular Landscape, and Therapeutics Amal A. Alodaini Citation: Alodaini, A.A. Uterine Mesenchymal Tumors: Updates on Pathology, Molecular Landscape, and Therapeutics. Medicina 2024, 60, 1085 . [https://doi.org/10.3390/](https://doi.org/10.3390/)[ ](https://doi.org/10.3390/)medicina60071085 Academic Editor: Vasilios Pergialiotis Received: 26 May 2024 Revised: 22 June 2024 Accepted: 25 June 2024 Published: 2 July 2024 Copyright: © 2024 by the author. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) . Pathology Department, King Fahd University Hospital, College of Medicine, Imam Abdulrahman Bin Faisal University, P.O. Box 1982, Dammam 31441, Saudi Arabia; [aaodaini@iau.edu.sa](aaodaini@iau.edu.sa) Abstract: Background: Mesenchymal uterine tumors are a diverse group of neoplasms with varying biological potential. Many of these neoplasms can have overlapping morphologic similarities, which, in some instances, render their diagnosis and categorization thorough histomorphologic examination inconclusive. In the last decade, an exponential amount of molecular data aiming to more accurately characterize and, consequently, treat these tumors have accumulated. Objective: The goal of this narrative review is to provide a pathologic review, a genetic update, and to know the new therapeutic avenues of primary uterine mesenchymal neoplasms. Keywords: mesenchymal tumor; gynecology; pathology; molecular update 1. Introduction Uterine mesenchymal tumors (UMTs) form a large, diverse group of non-epithelial tumors with varying malignant potentials. They constitute the second most common type of uterine corpus tumors after endometrial carcinomas, accounting for 8% of uterine corpus cancers [1,2] . Typically, UMTs are classified into unique subtypes based on their cellular origin (Figure 1, [1]), which can predict the distinct outcome and dictate their clinical management. Smooth muscle neoplasms are the most common uterine mesenchymal neoplasms, with leiomyosarcomas [ULMs] constituting 63% of uterine sarcomas, followed by endometrial stromal sarcoma [ESS, 21%], and other rarer entities that represent the remaining uterine mesenchymal tumors [2] . Occasionally, UMTs can pose a diagnostic challenge when they have overlapping morphologic and/or immunohistochemical features, especially with the increasing trends of limited sampling techniques, which can impede a precise tumor classification. In recent years, UMTs have been extensively examined using advanced molecular techniques, which have provided insights into their genetic landscape, identifying specific “driver” genes and uncovering new entities with distinct biological behaviors (Table 1) . The interest in identifying the genetic signature of UMTs is not only of diagnostic value but also serves as a theragnostic tool that can guide treatments based on the targeting of underlying genetic drivers that, subsequently, broaden patients’ treatment options. This article reviews the latest literature on established and emerging UMTs, including their pathological features and molecular landscape, as well as their novel therapeutics. Medicina 2024, 60, 1085. [https://doi.org/10.3390/medicina60071085](https://doi.org/10.3390/medicina60071085) [https://www.mdpi.com/journal/medicina](https://www.mdpi.com/journal/medicina) Figure 1. The World Health Organization’s 2020 classification of mesenchymal uterine tumors (adapted from WHO [1]) . Table 1. Molecular events in mesenchymal uterine tumors. | | Genetic Aberrations | References | | --- | --- | --- | | Leiomyosarcoma | TP53, RB1, PTEN, and ATRX mutations | [1,3,4] | | | PGR gene rea

FAQs

Why is diagnosis of uterine mesenchymal tumors sometimes inconclusive?

Many tumors share overlapping morphologic and immunohistochemical characteristics, which can make histomorphologic examination insufficient for definitive diagnosis and classification.

What role do molecular data play in understanding uterine mesenchymal tumors?

Molecular techniques have clarified the tumors’ genetic landscape, identified specific driver genes, and helped reveal new entities with distinct biological behaviors.

How can genetics influence treatment choices for these tumors?

Genetic signatures can support theragnostic strategies by guiding therapies toward underlying genetic drivers, potentially expanding treatment options for patients.

Sep 21, 2026

Upload by Liam