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Genetic alterations in uterine fibroids - a new direction for pharmacological intervention?
Dominique N Markowski1, Carsten Holzmann2, Jörn Bullerdiek1,2
1a 1 University of Bremen, Center of Human Genetics , Leobener Strasse ZHG, Bremen, Germany bullerd@uni-bremen.de.
Introduction:
Though uterine leiomyomas (UL) (syn.: fibroids) are by far the most frequent human symptomatic tumors their pathogenesis still remains to be elucidated. From the detection of microscopically visible alterations of chromosomal structure and molecular cytogenetic analyses, as well as from transcriptome and genome analyses, a picture of a heterogeneous group of benign clonal smooth muscle neoplasms emerges that, for clinical as well as histological reasons, have been summarized under the headline 'UL'.
Areas Covered:
In this review, the authors address the background of genetic alterations identified in UL as well their possible clinical significance.
Expert Opinion:
Of the emerging genetic subgroups of UL those characterized by chromosomal alterations targeting high mobility group protein AT-hook 2 gene (10 - 20%) and those with point mutations of mediator subcomplex 12 (60 - 70%) predominate. Mechanistic models as to how these changes molecularly contribute to tumor development are lagging far behind their identification. Nevertheless, the different sizes of both types of myomas, their different tendency to occur as single or multiple tumors, and even a different probability to undergo malignant transformation suggest that in the future the clinical management of patients with fibroids will benefit from distinguishing between these latter as well as other more rare subgroups.
Insights
Uterine leiomyomas (UL), the most common human tumors, are genetically diverse. Identifying specific genetic subgroups, like those with HMGA2 or MED12 mutations, can improve future clinical management of fibroids.
Area of Science:
- Gynecologic Oncology
- Human Genetics
- Tumorigenesis
Background:
- Uterine leiomyomas (UL), or fibroids, are the most frequent symptomatic human tumors.
- Their pathogenesis remains incompletely understood, despite evidence of heterogeneity.
- Genetic and molecular analyses reveal UL as benign clonal smooth muscle neoplasms.
Purpose of the Study:
- To review genetic alterations in UL.
- To discuss the potential clinical significance of these genetic findings.
Main Methods:
- Review of existing literature on genetic alterations in uterine leiomyomas.
- Analysis of cytogenetic, molecular, transcriptome, and genome data.
- Synthesis of findings regarding genetic subgroups and their clinical implications.
Main Results:
- Two predominant genetic subgroups of UL emerge: those with chromosomal alterations targeting the high mobility group protein AT-hook 2 (HMGA2) gene (10-20%) and those with point mutations in mediator subcomplex 12 (MED12) (60-70%).
- Mechanistic understanding of how these genetic alterations drive tumor development lags behind their identification.
- Distinct genetic subgroups exhibit differences in myoma size, multiplicity, and malignant transformation potential.
Conclusions:
- Distinguishing between genetic subgroups of UL is crucial for future clinical management.
- Subgroup classification may inform personalized treatment strategies for patients with fibroids.
- Further research is needed to elucidate the mechanistic links between genetic alterations and UL development.
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