Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas
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...
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-02-01
|
| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/22/4/1580 |
| _version_ | 1797414969617154048 |
|---|---|
| author | Donatella Conconi Serena Redaelli Andrea Alberto Lissoni Chiara Cilibrasi Patrizia Perego Eugenio Gautiero Elena Sala Mariachiara Paderno Leda Dalprà Fabio Landoni Marialuisa Lavitrano Gaia Roversi Angela Bentivegna |
| author_facet | Donatella Conconi Serena Redaelli Andrea Alberto Lissoni Chiara Cilibrasi Patrizia Perego Eugenio Gautiero Elena Sala Mariachiara Paderno Leda Dalprà Fabio Landoni Marialuisa Lavitrano Gaia Roversi Angela Bentivegna |
| author_sort | Donatella Conconi |
| collection | DOAJ |
| description | 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 <i>PRKDC</i> and <i>PUM2</i>, 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. |
| first_indexed | 2024-03-09T05:42:33Z |
| format | Article |
| id | doaj.art-d02b3a2ded1d46d18e16580ff117f241 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T05:42:33Z |
| publishDate | 2021-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-d02b3a2ded1d46d18e16580ff117f2412023-12-03T12:24:28ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-02-01224158010.3390/ijms22041580Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and LeiomyosarcomasDonatella Conconi0Serena Redaelli1Andrea Alberto Lissoni2Chiara Cilibrasi3Patrizia Perego4Eugenio Gautiero5Elena Sala6Mariachiara Paderno7Leda Dalprà8Fabio Landoni9Marialuisa Lavitrano10Gaia Roversi11Angela Bentivegna12School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalyDepartment of Biochemistry and Biomedicine, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RH, UKDivision of Pathology, San Gerardo Hospital, 20900 Monza, ItalyMedical Genetics Laboratory, San Gerardo Hospital, 20900 Monza, ItalyMedical Genetics Laboratory, San Gerardo Hospital, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, ItalyUterine 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 <i>PRKDC</i> and <i>PUM2</i>, 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.https://www.mdpi.com/1422-0067/22/4/1580uterine STUMParray-CGHcopy number alterationsGenome Wide DNA Methylation |
| spellingShingle | Donatella Conconi Serena Redaelli Andrea Alberto Lissoni Chiara Cilibrasi Patrizia Perego Eugenio Gautiero Elena Sala Mariachiara Paderno Leda Dalprà Fabio Landoni Marialuisa Lavitrano Gaia Roversi Angela Bentivegna Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas International Journal of Molecular Sciences uterine STUMP array-CGH copy number alterations Genome Wide DNA Methylation |
| title | Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas |
| title_full | Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas |
| title_fullStr | Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas |
| title_full_unstemmed | Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas |
| title_short | Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas |
| title_sort | genomic and epigenomic profile of uterine smooth muscle tumors of uncertain malignant potential stumps revealed similarities and differences with leiomyomas and leiomyosarcomas |
| topic | uterine STUMP array-CGH copy number alterations Genome Wide DNA Methylation |
| url | https://www.mdpi.com/1422-0067/22/4/1580 |
| work_keys_str_mv | AT donatellaconconi genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT serenaredaelli genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT andreaalbertolissoni genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT chiaracilibrasi genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT patriziaperego genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT eugeniogautiero genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT elenasala genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT mariachiarapaderno genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT ledadalpra genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT fabiolandoni genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT marialuisalavitrano genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT gaiaroversi genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas AT angelabentivegna genomicandepigenomicprofileofuterinesmoothmuscletumorsofuncertainmalignantpotentialstumpsrevealedsimilaritiesanddifferenceswithleiomyomasandleiomyosarcomas |