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Article ; Online: Impact of obesity and white adipose tissue inflammation on the omental microenvironment in endometrial cancer.

Moukarzel, Lea A / Ferrando, Lorenzo / Stylianou, Anthe / Lobaugh, Stephanie / Wu, Michelle / Nobre, Silvana Pedra / Iasonos, Alexia / Zoppoli, Gabriele / Giri, Dilip D / Abu-Rustum, Nadeem R / Broach, Vance A / Iyengar, Neil M / Weigelt, Britta / Makker, Vicky

Cancer

2022 Volume 128, Issue 18, Page(s) 3297–3309

Abstract: Background: A complex relationship between adipose tissue and malignancy, involving an inflammatory response, has been reported. The goal of this work was to assess the prevalence of white adipose tissue (WAT) inflammation in patients with endometrial ... ...

Abstract	Background: A complex relationship between adipose tissue and malignancy, involving an inflammatory response, has been reported. The goal of this work was to assess the prevalence of white adipose tissue (WAT) inflammation in patients with endometrial cancer (EC), and the association with circulating inflammation markers. Furthermore, the aim was to characterize the pathways activated in and the cell type composition of adipose tissue in patients with EC. Methods: Adipose tissue and blood samples were prospectively collected from 101 patients with EC at initial surgery. WAT inflammation was determined based on adipocytes surrounded by macrophages forming crown-like structures. Circulating levels of metabolic syndrome-associated and inflammatory markers were quantified. RNA-sequencing was performed on adipose samples (n = 55); differential gene expression, pathway, and cellular decomposition analyses were performed using state-of-the-art bioinformatics methods. Results: WAT inflammation was identified in 46 (45.5%) of 101 EC patients. Dyslipidemia, hypertension, and diabetes mellitus were significantly associated with WAT inflammation (p < .05). WAT inflammation was associated with greater body mass index (p < .001) and higher circulating levels of leptin, high-sensitivity C-reactive protein, and interleukin-6, as well as lower levels of adiponectin and sex hormone-binding globulin (p < .05). Transcriptomic analysis demonstrated increased levels of proinflammatory and pro-neoplastic-related gene expression in inflamed omental adipose tissue. Conclusions: WAT inflammation is associated with metabolic syndrome, obesity, and inflammatory markers, as well as increased expression of proinflammatory and proneoplastic genes.
MeSH term(s)	Adipose Tissue, White ; Biomarkers ; Endometrial Neoplasms ; Female ; Humans ; Inflammation ; Metabolic Syndrome ; Obesity ; Tumor Microenvironment
Chemical Substances	Biomarkers
Language	English
Publishing date	2022-07-06
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1429-1
ISSN	1097-0142 ; 0008-543X ; 1934-662X
ISSN (online)	1097-0142
ISSN	0008-543X ; 1934-662X
DOI	10.1002/cncr.34356
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Article ; Online: Acquisition of APOBEC Mutagenesis and Microsatellite Instability Signatures in the Development of Brain Metastases in Low-Grade, Early-Stage Endometrioid Endometrial Carcinoma.

Dessources, Kimberly / Da Cruz Paula, Arnaud / Pareja, Fresia / Stylianou, Anthe / Cybulska, Paulina / Farmanbar, Amir / Chandarlapaty, Sarat / Abu-Rustum, Nadeem R / Reis-Filho, Jorge S / Weigelt, Britta / Mueller, Jennifer J

JCO precision oncology

2020 Volume 4

Language	English
Publishing date	2020-10-05
Publishing country	United States
Document type	Case Reports
ISSN	2473-4284
ISSN (online)	2473-4284
DOI	10.1200/PO.20.00044
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Article ; Online: Genetic characterisation of adult primary pleomorphic uterine rhabdomyosarcoma and comparison with uterine carcinosarcoma.

Ashley, Charles W / Da Cruz Paula, Arnaud / Ferrando, Lorenzo / Gularte-Mérida, Rodrigo / Sebastiao, Ana P M / Brown, David N / Gazzo, Andrea M / Pareja, Fresia / Stylianou, Anthe / Abu-Rustum, Nadeem R / Reis-Filho, Jorge S / Buehler, Darya / Weisman, Paul / Chiang, Sarah / Weigelt, Britta

Histopathology

2021 Volume 79, Issue 2, Page(s) 176–186

Abstract: Aims: To characterise the genetic alterations in adult primary uterine rhabdomyosarcomas (uRMSs) and to investigate whether these tumours are genetically distinct from uterine carcinosarcomas (UCSs).: Methods and results: Three tumours originally ... ...

Abstract	Aims: To characterise the genetic alterations in adult primary uterine rhabdomyosarcomas (uRMSs) and to investigate whether these tumours are genetically distinct from uterine carcinosarcomas (UCSs). Methods and results: Three tumours originally diagnosed as primary adult pleomorphic uRMS were subjected to massively parallel sequencing targeting 468 cancer-related genes and RNA-sequencing. Mutational profiles were compared with those of UCSs (n = 57) obtained from The Cancer Genome Atlas. Sequencing data analyses were performed using validated bioinformatic approaches. Pathogenic TP53 mutations and high levels of genomic instability were detected in the three cases. uRMS1 harboured a likely pathogenic YTHDF2-FOXR1 fusion. uRMS2 harboured a PPP2R1A hotspot mutation and amplification of multiple genes, including WHSC1L1, FGFR1, MDM2, and CCNE1, whereas uRMS3 harboured an FBXW7 hotspot mutation and an ANKRD11 homozygous deletion. Hierarchical clustering of somatic mutations and copy number alterations revealed that these tumours initially diagnosed as pleomorphic uRMSs and UCSs were similar. Subsequent comprehensive pathological re-review of the three uRMSs revealed previously unidentified minute pan-cytokeratin-positive atypical glands in one case (uRMS3), favouring its reclassification as UCS with extensive rhabdomyosarcomatous overgrowth. Conclusions: Adult pleomorphic uRMSs harbour TP53 mutations and high levels of copy number alterations. Our findings underscore the challenge in discriminating between uRMS and UCS with rhabdomyosarcomatous differentiation.
MeSH term(s)	Adult ; Carcinosarcoma/genetics ; Carcinosarcoma/pathology ; Cluster Analysis ; DNA Copy Number Variations ; Female ; Gene Amplification ; Gene Fusion ; Genes, p53/genetics ; Genomic Instability ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Rhabdomyosarcoma/genetics ; Rhabdomyosarcoma/pathology ; Sequence Analysis, DNA ; Sequence Analysis, RNA ; Uterine Neoplasms/genetics ; Uterine Neoplasms/pathology
Language	English
Publishing date	2021-04-19
Publishing country	England
Document type	Comparative Study ; Journal Article
ZDB-ID	131914-0
ISSN	1365-2559 ; 0309-0167
ISSN (online)	1365-2559
ISSN	0309-0167
DOI	10.1111/his.14346
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Zs.A 1328: Show issues

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Article ; Online: Hyperthermic intraperitoneal chemotherapy (HIPEC) with carboplatin induces distinct transcriptomic changes in ovarian tumor and normal tissues.

Moukarzel, Lea A / Ferrando, Lorenzo / Dopeso, Higinio / Stylianou, Anthe / Basili, Thais / Pareja, Fresia / Da Cruz Paula, Arnaud / Zoppoli, Gabriele / Abu-Rustum, Nadeem R / Reis-Filho, Jorge S / Long Roche, Kara / Tew, William P / Chi, Dennis S / Sonoda, Yukio / Zamarin, Dmitriy / Aghajanian, Carol / O'Cearbhaill, Roisin E / Zivanovic, Oliver / Weigelt, Britta

Gynecologic oncology

2022 Volume 165, Issue 2, Page(s) 239–247

Abstract: Objective: To determine the effect of hyperthermic intraperitoneal chemotherapy (HIPEC) with carboplatin on the transcriptomic profiles of normal and ovarian cancer (OC) tissues.: Methods: Normal and tumor samples from four OCs were prospectively ... ...

Abstract	Objective: To determine the effect of hyperthermic intraperitoneal chemotherapy (HIPEC) with carboplatin on the transcriptomic profiles of normal and ovarian cancer (OC) tissues. Methods: Normal and tumor samples from four OCs were prospectively collected pre- and immediately post-HIPEC treatment and subjected to RNA-sequencing. Differential gene expression, gene ontology enrichment and pathway analyses were performed. Heat shock protein and immune-response protein expression was assessed using protein arrays and western blotting. Results: RNA-sequencing revealed 4231 and 322 genes significantly differentially expressed between pre- and post-treatment normal and OC tissues, respectively (both adjusted p-value <0.05). Gene enrichment analyses demonstrated that the most significantly upregulated genes in normal tissues played a role in immune as well as heat shock response (both adjusted p < 0.001). In contrast, HIPEC induced an increased expression of primarily heat shock response and protein folding-related genes in tumor tissues (both adjusted p < 0.001). HIPEC-induced heat shock protein (HSP) expression changes, including in HSP90, HSP40, HSP60, and HSP70, were also observed at the protein level in both normal and tumor tissues. Conclusions: HIPEC with carboplatin resulted in an upregulation of heat shock-related genes in both normal and tumor tissue, with an additional immune response gene induction in normal and protein folding in tumor tissue. The findings of our exploratory study provide evidence to suggest that HIPEC administration may suffice to induce gene expression changes in residual tumor cells and raises a biological basis for the consideration of combinatorial treatments with HSP inhibitors.
MeSH term(s)	Carboplatin/pharmacology ; Carboplatin/therapeutic use ; Combined Modality Therapy ; Cytoreduction Surgical Procedures ; Female ; Heat-Shock Proteins/metabolism ; Humans ; Hyperthermia, Induced/methods ; Hyperthermic Intraperitoneal Chemotherapy ; Ovarian Neoplasms/drug therapy ; Ovarian Neoplasms/genetics ; RNA/therapeutic use ; Transcriptome
Chemical Substances	Heat-Shock Proteins ; RNA (63231-63-0) ; Carboplatin (BG3F62OND5)
Language	English
Publishing date	2022-03-12
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	801461-9
ISSN	1095-6859 ; 0090-8258
ISSN (online)	1095-6859
ISSN	0090-8258
DOI	10.1016/j.ygyno.2022.02.022
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Zs.A 885: Show issues

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Article ; Online: Whole-Exome Sequencing Analysis of the Progression from Non-Low-Grade Ductal Carcinoma

Pareja, Fresia / Brown, David N / Lee, Ju Youn / Da Cruz Paula, Arnaud / Selenica, Pier / Bi, Rui / Geyer, Felipe C / Gazzo, Andrea / da Silva, Edaise M / Vahdatinia, Mahsa / Stylianou, Anthe A / Ferrando, Lorenzo / Wen, Hannah Y / Hicks, James B / Weigelt, Britta / Reis-Filho, Jorge S

Clinical cancer research : an official journal of the American Association for Cancer Research

2020 Volume 26, Issue 14, Page(s) 3682–3693

Abstract: Purpose: Ductal carcinoma : Experimental design: Synchronous DCIS (: Results: DCIS revealed genetic alterations similar to those of synchronously diagnosed IDC-NSTs and of non-related IDC-NSTs from The Cancer Genome Atlas (TCGA), whereas pure DCIS ...

Abstract	Purpose: Ductal carcinoma Experimental design: Synchronous DCIS ( Results: DCIS revealed genetic alterations similar to those of synchronously diagnosed IDC-NSTs and of non-related IDC-NSTs from The Cancer Genome Atlas (TCGA), whereas pure DCIS lacked Conclusions: Intralesion genetic heterogeneity is a common feature in DCIS synchronously diagnosed with IDC-NST. DCIS is a nonobligate precursor of IDC-NST, whose mechanisms of progression to invasive breast cancer are diverse and vary from case to case.
MeSH term(s)	Adult ; Aged ; Biomarkers, Tumor/genetics ; Breast/pathology ; Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Carcinoma, Ductal, Breast/diagnosis ; Carcinoma, Ductal, Breast/genetics ; Carcinoma, Ductal, Breast/pathology ; Carcinoma, Intraductal, Noninfiltrating/diagnosis ; Carcinoma, Intraductal, Noninfiltrating/genetics ; Carcinoma, Intraductal, Noninfiltrating/pathology ; Class I Phosphatidylinositol 3-Kinases/genetics ; DNA Copy Number Variations ; DNA Mutational Analysis ; Disease Progression ; Female ; Genetic Heterogeneity ; Humans ; Middle Aged ; Neoplasm Grading ; Neoplasms, Multiple Primary/diagnosis ; Neoplasms, Multiple Primary/genetics ; Neoplasms, Multiple Primary/pathology ; Whole Exome Sequencing
Chemical Substances	Biomarkers, Tumor ; Class I Phosphatidylinositol 3-Kinases (EC 2.7.1.137) ; PIK3CA protein, human (EC 2.7.1.137)
Language	English
Publishing date	2020-03-27
Publishing country	United States
Document type	Journal Article ; Observational Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1225457-5
ISSN	1557-3265 ; 1078-0432
ISSN (online)	1557-3265
ISSN	1078-0432
DOI	10.1158/1078-0432.CCR-19-2563
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Zs.A 4223: Show issues

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Article ; Online: Mesonephric and mesonephric-like carcinomas of the female genital tract: molecular characterization including cases with mixed histology and matched metastases.

da Silva, Edaise M / Fix, Daniel J / Sebastiao, Ana Paula Martins / Selenica, Pier / Ferrando, Lorenzo / Kim, Sarah H / Stylianou, Anthe / Da Cruz Paula, Arnaud / Pareja, Fresia / Smith, Evan S / Zehir, Ahmet / Konner, Jason A / Cadoo, Karen / Reis-Filho, Jorge S / Abu-Rustum, Nadeem R / Mueller, Jennifer J / Weigelt, Britta / Park, Kay J

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

2021 Volume 34, Issue 8, Page(s) 1570–1587

Abstract: Mesonephric carcinoma of the cervix is a rare tumor derived from Wolffian remnants. Mesonephric-like carcinomas of the ovary and endometrium, while morphologically similar, do not have obvious Wolffian derivation. Here, we sought to characterize the ... ...

Abstract	Mesonephric carcinoma of the cervix is a rare tumor derived from Wolffian remnants. Mesonephric-like carcinomas of the ovary and endometrium, while morphologically similar, do not have obvious Wolffian derivation. Here, we sought to characterize the repertoire of genetic alterations in primary mesonephric and mesonephric-like carcinomas, in the distinct histologic components of mixed cases, as well as in matched primary tumors and metastases. DNA from microdissected tumor and normal tissue from mesonephric carcinomas (cervix, n = 8) and mesonephric-like carcinomas (ovarian n = 15, endometrial n = 13) were subjected to sequencing targeting 468 cancer-related genes. The histologically distinct components of four cases with mixed histology and four primary tumors and their matched metastases were microdissected and analyzed separately. Mesonephric-like carcinomas were underpinned by somatic KRAS mutations (25/28, 89%) akin to mesonephric carcinomas (8/8, 100%), but also harbored genetic alterations more frequently reported in Müllerian tumors. Mesonephric-like carcinomas that lacked KRAS mutations harbored NRAS (n = 2, ovary) or BRAF (n = 1, endometrium) hotspot mutations. PIK3CA mutations were identified in both mesonephric-like (8/28, 28%) and mesonephric carcinomas (2/8, 25%). Only mesonephric-like tumors harbored CTNNB1 hotspot (4/28, 14%) and PTEN (3/13, 23%) mutations. Copy number analysis revealed frequent gains of chromosomes 1q and 10 in both mesonephric (87% 1q; 50% chromosome 10) and mesonephric-like tumors (89% 1q; 43% chromosome 10). Chromosome 12 gains were more frequent in ovarian mesonephric-like carcinomas, and losses of chromosome 9 were more frequent in mesonephric than in mesonephric-like carcinomas (both p = 0.01, Fisher's exact test). The histologically distinct components of four mixed cases were molecularly related and shared similar patterns of genetic alterations. The progression from primary to metastatic lesions involved the acquisition of additional mutations, and/or shifts from subclonal to clonal mutations. Our findings suggest that mesonephric-like carcinomas are derived from a Müllerian substrate with differentiation along Wolffian/mesonephric lines.
MeSH term(s)	Adult ; Aged ; Female ; Genital Neoplasms, Female/genetics ; Genital Neoplasms, Female/pathology ; Humans ; Mesonephroma/genetics ; Mesonephroma/pathology ; Middle Aged ; Mutation
Language	English
Publishing date	2021-03-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	645073-8
ISSN	1530-0285 ; 0893-3952
ISSN (online)	1530-0285
ISSN	0893-3952
DOI	10.1038/s41379-021-00799-6
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Zs.A 2450: Show issues

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Article ; Online: Mutant FOXL2

Weis-Banke, Stine E / Lerdrup, Mads / Kleine-Kohlbrecher, Daniela / Mohammad, Faizaan / Sidoli, Simone / Jensen, Ole N / Yanase, Toshihiko / Nakamura, Tomoko / Iwase, Akira / Stylianou, Anthe / Abu-Rustum, Nadeem R / Aghajanian, Carol / Soslow, Robert / Da Cruz Paula, Arnaud / Koche, Richard P / Weigelt, Britta / Christensen, Jesper / Helin, Kristian / Cloos, Paul A C

Cancer research

2020 Volume 80, Issue 17, Page(s) 3466–3479

Abstract: The mutant protein ... ...

Abstract	The mutant protein FOXL2
MeSH term(s)	Cell Line, Tumor ; Cells, Cultured ; Epithelial-Mesenchymal Transition/genetics ; Female ; Forkhead Box Protein L2/genetics ; Forkhead Box Protein L2/metabolism ; Gene Expression Regulation, Neoplastic/genetics ; Granulosa Cell Tumor/genetics ; Granulosa Cell Tumor/metabolism ; Granulosa Cell Tumor/pathology ; Humans ; Mutation ; Smad Proteins/metabolism ; Smad2 Protein/metabolism ; Smad3 Protein/metabolism ; Smad4 Protein/metabolism
Chemical Substances	FOXL2 protein, human ; Forkhead Box Protein L2 ; SMAD2 protein, human ; SMAD3 protein, human ; SMAD4 protein, human ; Smad Proteins ; Smad2 Protein ; Smad3 Protein ; Smad4 Protein
Language	English
Publishing date	2020-07-08
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1432-1
ISSN	1538-7445 ; 0008-5472
ISSN (online)	1538-7445
ISSN	0008-5472
DOI	10.1158/0008-5472.CAN-20-0259
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Article ; Online: Oncogenic properties and signaling basis of the PAX8-GLIS3 fusion gene.

Basili, Thais / Dopeso, Higinio / Kim, Sarah H / Ferrando, Lorenzo / Pareja, Fresia / Da Cruz Paula, Arnaud / da Silva, Edaise M / Stylianou, Anthe / Maroldi, Ana / Marchiò, Caterina / Rubin, Brian P / Papotti, Mauro / Weigelt, Britta / Moreira Ferreira, Carlos Gil / Lapa E Silva, José Roberto / Reis-Filho, Jorge S

International journal of cancer

2020 Volume 147, Issue 8, Page(s) 2253–2264

Abstract: Hyalinizing trabecular tumors of the thyroid are rare and mostly benign epithelial neoplasms of follicular cell origin, which have recently been shown to be underpinned by the PAX8-GLIS3 fusion gene. In our study, we sought to investigate the potential ... ...

Abstract	Hyalinizing trabecular tumors of the thyroid are rare and mostly benign epithelial neoplasms of follicular cell origin, which have recently been shown to be underpinned by the PAX8-GLIS3 fusion gene. In our study, we sought to investigate the potential oncogenic mechanisms of the PAX8-GLIS3 fusion gene. Forced expression of PAX8-GLIS3 was found to increase proliferation, clonogenic potential and migration of human nonmalignant thyroid (Nthy-ori 3-1) and embryonic kidney (HEK-293) cells. Moreover, in xenografts, Nthy-ori 3-1 PAX8-GLIS3 expressing cells generated significantly larger and more proliferative tumors compared to controls. These oncogenic effects were found to be mediated through activation of the Sonic Hedgehog (SHH) pathway. Targeting of smoothened (SMO), a key protein in the SHH pathway, using the small molecule inhibitor Cyclopamine partially reversed the increased proliferation, colony formation and migration in PAX8-GLIS3 expressing cells. Our data demonstrate that the oncogenic effects of the PAX8-GLIS3 fusion gene are, at least in part, due to an increased activation of the SHH pathway.
MeSH term(s)	Animals ; Carcinogenesis/genetics ; Cell Movement/genetics ; Cell Proliferation/genetics ; DNA-Binding Proteins/genetics ; Female ; HEK293 Cells ; Hedgehog Proteins/genetics ; Heterografts/pathology ; Humans ; Mice ; Mice, Nude ; Oncogene Proteins, Fusion/genetics ; Oncogenes/genetics ; PAX8 Transcription Factor/genetics ; Repressor Proteins/genetics ; Signal Transduction/genetics ; Thyroid Gland/pathology ; Thyroid Neoplasms/genetics ; Thyroid Neoplasms/pathology ; Trans-Activators/genetics
Chemical Substances	DNA-Binding Proteins ; GLIS3 protein, human ; Hedgehog Proteins ; Oncogene Proteins, Fusion ; PAX8 Transcription Factor ; PAX8 protein, human ; Repressor Proteins ; Trans-Activators
Language	English
Publishing date	2020-05-21
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	218257-9
ISSN	1097-0215 ; 0020-7136
ISSN (online)	1097-0215
ISSN	0020-7136
DOI	10.1002/ijc.33040
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Zs.A 478: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary.

Kim, Sarah H / Da Cruz Paula, Arnaud / Basili, Thais / Dopeso, Higinio / Bi, Rui / Pareja, Fresia / da Silva, Edaise M / Gularte-Mérida, Rodrigo / Sun, Zhen / Fujisawa, Sho / Smith, Caitlin G / Ferrando, Lorenzo / Martins Sebastião, Ana Paula / Bykov, Yonina / Li, Anqi / Silveira, Catarina / Ashley, Charles W / Stylianou, Anthe / Selenica, Pier /

Samore, Wesley R / Jungbluth, Achim A / Zamarin, Dmitriy / Abu-Rustum, Nadeem R / Helin, Kristian / Soslow, Robert A / Reis-Filho, Jorge S / Oliva, Esther / Weigelt, Britta

Nature communications

2020 Volume 11, Issue 1, Page(s) 44

Abstract: Sclerosing stromal tumor (SST) of the ovary is a rare type of sex cord-stromal tumor (SCST), whose genetic underpinning is currently unknown. Here, using whole-exome, targeted capture and RNA-sequencing, we report recurrent FHL2-GLI2 fusion genes in 65% ( ...

Abstract	Sclerosing stromal tumor (SST) of the ovary is a rare type of sex cord-stromal tumor (SCST), whose genetic underpinning is currently unknown. Here, using whole-exome, targeted capture and RNA-sequencing, we report recurrent FHL2-GLI2 fusion genes in 65% (17/26) of SSTs and other GLI2 rearrangements in additional 15% (4/26) SSTs, none of which are detected in other types of SCSTs (n = 48) or common cancer types (n = 9,950). The FHL2-GLI2 fusions result in transcriptomic activation of the Sonic Hedgehog (SHH) pathway in SSTs. Expression of the FHL2-GLI2 fusion in vitro leads to the acquisition of phenotypic characteristics of SSTs, increased proliferation, migration and colony formation, and SHH pathway activation. Targeted inhibition of the SHH pathway results in reversal of these oncogenic properties, indicating its role in the pathogenesis of SSTs. Our results demonstrate that the FHL2-GLI2 fusion is likely the oncogenic driver of SSTs, defining a genotypic-phenotypic correlation in ovarian neoplasms.
MeSH term(s)	Adolescent ; Adult ; Female ; Gene Dosage ; Gene Expression Regulation, Neoplastic ; Hedgehog Proteins/genetics ; Hedgehog Proteins/metabolism ; Humans ; LIM-Homeodomain Proteins/genetics ; Middle Aged ; Muscle Proteins/genetics ; Mutation ; Nuclear Proteins/genetics ; Oncogene Proteins, Fusion/genetics ; Oncogene Proteins, Fusion/metabolism ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; Sclerosis ; Sex Cord-Gonadal Stromal Tumors/genetics ; Sex Cord-Gonadal Stromal Tumors/pathology ; Stromal Cells/pathology ; Transcription Factors/genetics ; Whole Exome Sequencing ; Young Adult ; Zinc Finger Protein Gli2/genetics
Chemical Substances	FHL2 protein, human ; GLI2 protein, human ; Hedgehog Proteins ; LIM-Homeodomain Proteins ; Muscle Proteins ; Nuclear Proteins ; Oncogene Proteins, Fusion ; SHH protein, human ; Transcription Factors ; Zinc Finger Protein Gli2
Language	English
Publishing date	2020-01-02
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-019-13806-x
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Article ; Online: Ovarian cancer mutational processes drive site-specific immune evasion.

Vázquez-García, Ignacio / Uhlitz, Florian / Ceglia, Nicholas / Lim, Jamie L P / Wu, Michelle / Mohibullah, Neeman / Niyazov, Juliana / Ruiz, Arvin Eric B / Boehm, Kevin M / Bojilova, Viktoria / Fong, Christopher J / Funnell, Tyler / Grewal, Diljot / Havasov, Eliyahu / Leung, Samantha / Pasha, Arfath / Patel, Druv M / Pourmaleki, Maryam / Rusk, Nicole /

Shi, Hongyu / Vanguri, Rami / Williams, Marc J / Zhang, Allen W / Broach, Vance / Chi, Dennis S / Da Cruz Paula, Arnaud / Gardner, Ginger J / Kim, Sarah H / Lennon, Matthew / Long Roche, Kara / Sonoda, Yukio / Zivanovic, Oliver / Kundra, Ritika / Viale, Agnes / Derakhshan, Fatemeh N / Geneslaw, Luke / Issa Bhaloo, Shirin / Maroldi, Ana / Nunez, Rahelly / Pareja, Fresia / Stylianou, Anthe / Vahdatinia, Mahsa / Bykov, Yonina / Grisham, Rachel N / Liu, Ying L / Lakhman, Yulia / Nikolovski, Ines / Kelly, Daniel / Gao, Jianjiong / Schietinger, Andrea / Hollmann, Travis J / Bakhoum, Samuel F / Soslow, Robert A / Ellenson, Lora H / Abu-Rustum, Nadeem R / Aghajanian, Carol / Friedman, Claire F / McPherson, Andrew / Weigelt, Britta / Zamarin, Dmitriy / Shah, Sohrab P

Nature

2022 Volume 612, Issue 7941, Page(s) 778–786

Abstract: High-grade serous ovarian cancer (HGSOC) is an archetypal cancer of genomic ... ...

Abstract	High-grade serous ovarian cancer (HGSOC) is an archetypal cancer of genomic instability
MeSH term(s)	Female ; Humans ; CD8-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/pathology ; Cystadenocarcinoma, Serous/genetics ; Cystadenocarcinoma, Serous/immunology ; Cystadenocarcinoma, Serous/pathology ; Homologous Recombination ; Immune Evasion/genetics ; Mutation ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/immunology ; Ovarian Neoplasms/pathology ; Tumor Microenvironment ; Transforming Growth Factor beta ; Genes, BRCA1 ; Genes, BRCA2
Chemical Substances	Transforming Growth Factor beta
Language	English
Publishing date	2022-12-14
Publishing country	England
Document type	Journal Article ; Research Support, U.S. Gov't, P.H.S. ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	120714-3
ISSN	1476-4687 ; 0028-0836
ISSN (online)	1476-4687
ISSN	0028-0836
DOI	10.1038/s41586-022-05496-1
Database	MEDical Literature Analysis and Retrieval System OnLINE

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