HMGA2 expression pattern and TERT mutations in tumors of the vulva

Agostini, Antonio; Panagopoulos, Ioannis; Andersen, Hege Kilen; Johannesen, Lene Elisabeth; Davidson, Ben; Tropé, Claes G.; Heim, Sverre; Micci, Francesca

doi:10.3892/or.2015.3882

Cited by 18 publications

(29 citation statements)

References 18 publications

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“…HMGA2 is a member of the highmobility group of AT-hook proteins, which are expressed during embryonic development [35] as well as in different tumors (e.g. squamous cell carcinoma and malignant melanoma [36]). While only a few samples showed a TERT promoter mutation [36], it is still unclear if there is an association between HMGA2 expression and TERT promoter mutations.…”

Section: Discussionmentioning

confidence: 99%

ModellingTERTregulation across 19 different cancer types based on the MIPRIP 2.0 gene regulatory network approach

Poos

Kordaß

Kolte

et al. 2019

Preprint

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Background: Reactivation of the telomerase reverse transcriptase gene TERT is a central feature for the unlimited proliferation potential of the majority of cancers but the underlying regulatory processes are only partly understood. Results:We assembled regulator binding information from different sources to construct a generic human and mouse regulatory network. Advancing our "Mixed Integer linear Programming based Regulatory Interaction Predictor" (MIPRIP) approach, we identified the most common and cancer-type specific regulators of TERT across 19 different human cancers. The results were validated by using the wellknown TERT regulation by the ETS1 transcription factor in a subset of melanomas with mutations in the TERT promoter. Conclusion:Our improved MIPRIP2 R-package and the associated generic regulatory networks are freely available at https://github.com/networkmodeling/MIPRIP. MIPRIP 2.0 identified both common as well as tumor type specific regulators of TERT. The software can be easily applied to transcriptome datasets to predict gene regulation for any gene and disease/condition under investigation.

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Section: Discussionmentioning

confidence: 99%

ModellingTERTregulation across 19 different cancer types based on the MIPRIP 2.0 gene regulatory network approach

Poos

Kordaß

Kolte

et al. 2019

Preprint

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“…The tumors have previously been characterized for their genomic alterations and deregulation of gene expression [4, 5, 8]. Four samples of normal vulva tissue from healthy donors were used as controls.…”

Section: Methodsmentioning

confidence: 99%

“…On chromosome 3, a deletion of the fragile histidine triad ( FHIT ) gene in 3p14 was reported leading to downregulation of gene expression [5]. Lately, overexpression of the high-mobility AT-hook 2 ( HMGA2 ) gene, mapping on 12q14.3, was shown [8]. …”

Section: Introductionmentioning

confidence: 99%

Recurrent fusion transcripts in squamous cell carcinomas of the vulva

et al. 2017

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Juxtaposition of two different genes or gene parts due to chromosomal rearrangement is a well-known neoplasia-associated pathogenetic mechanism. The detection and characterization of such tumorigenic fusions is of great importance both research-wise, diagnostically because they may be specific for distinct tumor entities, and because they may serve as therapeutic targets for antioncogenic drugs that interact directly with the molecular changes responsible for neoplastic transformation.At present, more than 10,000 fusion transcripts have been reported in different types of neoplasia, with one tenth of them being identified in squamous cell carcinomas (SCC) of different locations. No recurrent fusion gene has to date been identified in SCC of the vulva.We performed high-throughput paired-end RNA-sequencing of 12 vulvar SCC and found two recurrent fusions with the STIP1-CREB3L1 and ZDHHC5-GPR137 being present in two tumors each. The transcripts were detected only in the tumor samples, not in normal vulvar tissue from healthy donors used as control. The CREB3L1 and ZDHHC5 genes encode proteins involved in transcription suggesting that the chimeras may alter downstream events in their respective pathways. Expression analysis of the CREB3L1 gene showed the presence of two distinct groups of tumors, one having fusion and downregulation of the gene and the other showing upregulation of CREB3L1.

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“…Telomerase reverse transcriptase (TErT), a catalytic subunit of telomerase that includes an rnA component (TErC), therewithal maintains the telomere homeostasis and chromosomal integrity (15). reactivation of TErT has been detected in approximately 90% of human cancers (3,(17)(18)(19)(20). This study attempted to investigate whether immunohistochemical expression of TErT differs in neoplastic and nonneoplastic pituitary tissues and aimed to investigate whether TErT expression is related to clinicopathological features of pituitary adenomas.…”

Section: Comparisons Of Cytoplasmic Tert Expression With Clinicopathomentioning

confidence: 99%

“…TErT expression is suppressed in normal adult somatic tissues, but it can be expressed in embryogenic tissues. reactivation of TErT has been detected in approximately 90% of human cancers (3,(17)(18)(19)(20). Thus, TErT activity in pituitary adenomas has been the subject of a few studies that showed contradictory results (3,16,21).…”

Section: Introductionmentioning

confidence: 99%

Tert expression in pituitary adenomas

Can

Çelık²,

Bulbul³

et al. 2017

TJPATH

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Objective: Although pituitary adenomas have benign histomorphological features, some of them may present in an aggressive manner. To predict the behaviour of these tumours, telomerase reverse transcriptase (TErT) activity in pituitary adenomas has been the subject of a few studies with contradictory results. This study aims to investigate whether immunohistochemical expression of TErT differs in neoplastic and nonneoplastic pituitary tissues and aims to investigate whether TErT expression is related to clinicopathological features of pituitary adenomas. Material and Method:The study included 48 patients who had been diagnosed with pituitary adenomas and had clinical follow-ups. nonneoplastic pituitary tissues were obtained from autopsy specimens (n=20). Immunohistochemistry for TErT antibody was performed. Both the nuclear and cytoplasmic expression of TErT antibody was noted, and total combined TErT staining was evaluated according to nuclear and cytoplasmic stainings. Results:TErT expression did not differ between neoplastic and nonneoplastic pituitary tissues. neither total (combined nuclear and cytoplasmic) TErT nor nuclear TErT expression revealed any statistically significant relationship with any of the clinicopathological features. Higher cytoplasmic TErT expression was observed in adenomas with recurrence than adenomas without recurrence (p=0.035). Conclusion:This study introduces the notion that immunohistochemical expression of TErT does not differ in neoplastic and nonneoplastic pituitary tissues. Pituitary adenomas with cytoplasmic immunohistochemical expression of TErT have significantly higher rates of recurrence. Further studies, including combined methods of immunohistochemistry and molecular analyses in larger groups, may reveal applicable results for the clinical significance of TErT in pituitary adenomas.

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HMGA2 expression pattern and TERT mutations in tumors of the vulva

Cited by 18 publications

References 18 publications

ModellingTERTregulation across 19 different cancer types based on the MIPRIP 2.0 gene regulatory network approach

ModellingTERTregulation across 19 different cancer types based on the MIPRIP 2.0 gene regulatory network approach

Recurrent fusion transcripts in squamous cell carcinomas of the vulva

Tert expression in pituitary adenomas

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