Citation: Maia Falcão, R.; Kokaraki,
G.; De Wispelaere, W.; Amant, F.;
De Souza, G.A.; de Souza, J.E.S.;
Carlson, J.W.; Petta, T.B. The
Expression of the
Immunoproteasome Subunit PSMB9
Is Related to Distinct Molecular
Subtypes of Uterine Leiomyosarcoma.
Cancers 2022, 14, 5007. https://
doi.org/10.3390/cancers14205007
Academic Editor: Carlos S. Moreno
Received: 9 September 2022
Accepted: 5 October 2022
Published: 13 October 2022
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cancers
Article
The Expression of the Immunoproteasome Subunit PSMB9 Is
Related to Distinct Molecular Subtypes of
Uterine Leiomyosarcoma
Raul Maia Falcão
1,2
, Georgia Kokaraki
2
, Wout De Wispelaere
3
, Frédéric Amant
3,4
,
Gustavo Antônio De Souza
1
, Jorge Estefano Santana de Souza
1,2
, Joseph Woodward Carlson
2,5
and Tirzah Braz Petta
1,2,5,
*
1
Bioinformatics Graduate Program, Instituto Metropole Digital, Federal University of Rio Grande do Norte,
Natal 59078-970, Brazil
2
University of Southern California Keck School of Medicine, University of Southern California,
Los Angeles, CA 90007, USA
3
Department of Oncology, Leuven and Leuven Cancer Institute, Katholieke Universiteit, 3000 Leuven, Belgium
4
Department of Surgery, The Netherlands Cancer Institute, 1066 Amsterdam, The Netherlands
5
K7 Onkologi-Patologi, Karolinska Institute, 17177 Stockholm, Sweden
* Correspondence: tirzah.petta@usc.edu; Tel.: +1-323-442-1153
Simple Summary: Uterine leiomyosarcoma (uLMS) is a rare, aggressive, and highly heterogeneous
tumor. Knockout female mice for the catalytic subunit of the immunoproteasome PSMB9 devel-
ops spontaneous uLMS. In this study, we used molecular data from 3 non-related uLMS cohorts
that were integrated and analyzed by proteotranscriptomics. We observed overexpression of the
immunoproteasome pathway in uLMS, and then further classified the samples as low or high PSMB9
gene expression levels and we provide evidence that; (i) in the group high there is an enrichment
of pathways related to the immune system and in the group low, the ECM formation; (ii) samples
with high CD8+/PSMB9 ratio shows better OS; and (iii) the main regulator in the high group is IFNγ
and in the low, the proto-oncogene SRC. These findings contribute to the understanding of potential
therapeutic or prognostic markers in uLMS.
Abstract: Background: Uterine leiomyosarcoma (uLMS) are rare and malignant tumors that arise
in the myometrium cells and whose diagnosis is based on histopathological features. Identifying
diagnostic biomarkers for uLMS is a challenge due to molecular heterogeneity and the scarcity of
samples. In vivo and in vitro models for uLMS are urgently needed. Knockout female mice for the
catalytic subunit of the immunoproteasome PSMB9 (MIM:177045) develop spontaneous uLMS. This
study aimed to analyze the role of PSMB9 in uLMS tumorigenesis and patient outcome. Methods:
Molecular data from 3 non-related uLMS cohorts were integrated and analyzed by proteotranscrip-
tomic using gene expression and protein abundance levels in 68 normal adjacent myometrium (MM),
66 uterine leiomyoma (LM), and 67 uLMS. Results: the immunoproteasome pathway is upregulated
and the gene PMSB9 shows heterogeneous expression values in uLMS. Quartile group analysis
showed no significant difference between groups high and low PSMB9 expression groups at 3-years
overall survival (OS). Using CYBERSORTx analysis we observed 9 out of 17 samples in the high group
clustering together due to high M2 macrophages and CD4 memory resting, and high CD8+/PSMB9
ratio was associated with better OS. The main pathway regulated in the high group is IFNγ and
in the low is the ECM pathway dependent on the proto-oncogene SRC. Conclusion: these findings
suggest 2 subtypes of uLMS (immune-related and ECM-related) with different candidate mechanisms
of malignancy.
Keywords: uterine leiomyosarcoma; immunoproteasome; PSMB9; extracellular matrix
Cancers 2022, 14, 5007. https://doi.org/10.3390/cancers14205007 https://www.mdpi.com/journal/cancers