Uterine fibroids (UFs) are the most common benign tumors of female genital diseases, unlike uterine leiomyosarcoma (LMS), a rare and aggressive uterine cancer. This narrative review aims to discuss the biology and diagnosis of LMS and, at the same time, their differential diagnosis, in order to distinguish the biological and molecular origins. The authors performed a Medline and PubMed search for the years 1990-2022 using a combination of keywords on the topics to highlight the many genes and proteins involved in the pathogenesis of LMS. The mutation of these genes, in addition to the altered expression and functions of their enzymes, are potentially biomarkers of uterine LMS. Thus, the use of this molecular and protein information could favor differential diagnosis and personalized therapy based on the molecular characteristics of LMS tissue, leading to timely diagnoses and potential better outcomes for patients.
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http://dx.doi.org/10.3390/ijms23179728 | DOI Listing |
BMJ Open
December 2024
Edinburgh Cancer Centre, Western General Hospital, Edinburgh, UK.
Background: Although rare, uterine sarcomas account for a high proportion of uterine cancer mortality. Treatment options and robust trial data are limited.
Objectives: The TOURISM study (Treatment Outcomes in UteRIne SarcoMa) is a UK-wide study by the National Oncology Trainees Collaborative for Healthcare Research which aimed to characterise this patient cohort.
Adv Anat Pathol
January 2025
Department of Pathology, University of Michigan-Michigan Medicine, Ann Arbor, MI.
Uterine smooth muscle neoplasms are a biologically and clinically heterogeneous group of tumors. Morphology is the cornerstone of pathologic diagnosis of these tumors, and most are readily classified as benign or malignant on the basis of routine histologic examination. However, rare subsets-including intravenous leiomyomatosis, benign metastasizing leiomyoma, and disseminated peritoneal leiomyomatosis-have a capacity for extrauterine spread despite benign cytomorphology.
View Article and Find Full Text PDFBiochim Biophys Acta Mol Basis Dis
December 2024
Universidade Federal do Rio Grande do Norte, IMD, Ppg-Bioinformatica, Natal, Brazil; University of Southern California, Keck School of Medicine, Department of Translational Genomics, 1450 Biggy St., Los Angeles, CA 90089, United States of America. Electronic address:
Uterine leiomyosarcoma (uLMS) is a rare and aggressive cancer representing approximately 25 % of all uterine malignancies. The molecular heterogeneity and pathogenesis of uLMS are not well understood, and translational studies aimed at discovering the vulnerabilities of this tumor type are of high priority. We conducted an innovative comprehensive multi-omics integration study from DNA to protein using freshly frozen tumors.
View Article and Find Full Text PDFInt J Cancer
December 2024
Department I of Internal Medicine/Centre for Integrated Oncology Aachen Bonn Cologne Duesseldorf, University Hospital Cologne, Faculty of Medicine, University of Cologne, Cologne, Germany.
This study evaluates the H2AX/γ-H2AX expression in soft tissue sarcomas (STS), its implications for biological behavior and immune environment, and its potential as a prognostic biomarker. RNA-Seq data from 237 STS were obtained from The Cancer Genome Atlas project. Patients were stratified by H2AX mRNA expression using a survival-associated cutoff.
View Article and Find Full Text PDFJ Pathol
December 2024
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Leiomyoma with bizarre nuclei (LM-BN) is a rare variant of leiomyoma with a benign clinical course. In contrast, leiomyosarcoma (LMS) is a high-grade, malignant neoplasm characterized by high recurrence rates and poor survival. While LM-BN and LMS show distinct morphologies, they share similar immunoprofiles and molecular alterations, with both considered 'genomically unstable'.
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