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. 2021 Feb 4;22(4):1580.
doi: 10.3390/ijms22041580.

Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas

Donatella Conconi  1 , Serena Redaelli  1 , Andrea Alberto Lissoni  1   2 , Chiara Cilibrasi  3 , Patrizia Perego  4 , Eugenio Gautiero  5 , Elena Sala  5 , Mariachiara Paderno  1   2 , Leda Dalprà  1 , Fabio Landoni  1   2 , Marialuisa Lavitrano  1 , Gaia Roversi  1   5 , Angela Bentivegna  1
Affiliations

Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas

Donatella Conconi et al. Int J Mol Sci. .

Abstract

Uterine smooth muscle tumors of uncertain malignant potential (STUMPs) represent a heterogeneous group of tumors that cannot be histologically diagnosed as unequivocally benign or malignant. For this reason, many authors are working to obtain a better definition of diagnostic and prognostic criteria. In this work, we analyzed the genomic and epigenomic profile of uterine smooth muscle tumors (USMTs) in order to find similarities and differences between STUMPs, leiomyosarcomas (LMSs) and leiomyomas (LMs), and possibly identify prognostic factors in this group of tumors. Array-CGH data on 23 USMTs demonstrated the presence of a more similar genomic profile between STUMPs and LMSs. Some genes, such as PRKDC and PUM2, with a potential prognostic value, were never previously associated with STUMP. The methylation data appears to be very promising, especially with regards to the divergent profile found in the sample that relapsed, characterized by an overall CGI hypomethylation. Finally, the Gene Ontology analysis highlighted some cancer genes that could play a pivotal role in the unexpected aggressive behavior that can be found in some of these tumors. These genes could prove to be prognostic markers in the future.

Keywords: Genome Wide DNA Methylation; array-CGH; copy number alterations; uterine STUMP.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Array-CGH results. (A) Number of CNAs and follow-up status (Student t test p < 0.05). (B) CNAs’ distribution within chromosomes in leiomyomas, STUMPs and leiomyosarcomas (LM vs. STUMPs, ANOVA and Tukey test p = 0.0004). * statistically significant difference; - comparison between LM and STUMP
Figure 2
Figure 2
Methylation results. (A) Frequency of unmethylated (−) and methylated (+) CGIs for each sample. The methylation status for each chromosome is reported. Mean values are indicated with black dashes. STUMP4 vs. other samples * p < 0.01, Student’s t test. (B) Frequency of methylated CGI islands for each chromosome in each sample. STUMP4 vs. other samples * p < 0.01, Chi-square test.
Figure 3
Figure 3
Gene Ontology results. Percentage of unmethylated and methylated genes in GOgroups. * p < 0.05.
See this image and copyright information in PMC

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