Immunohistochemical and Molecular Characterization of Endometrial Stromal Sarcomas

Introduction: Endometrial stromal sarcomas (ESSs) are rare and characterized by translocations t(7;17)(p15;q11.2) and t(10;17)(q22;p13), resulting in JAZF1-SUZ12 and YWHAE-FAM22 gene fusions used for defining low-grade (LG-ESS) and high-grade (HG-ESS) tumours. Aim: The objective of the study was to characterize ESSs using immunohistochemical and molecular markers. Material and Methods: Patients diagnosed as having ESSs between January 2014 and December 2018 were included in the study. The slides were reviewed along with a panel of immunohistochemical markers, CD10, cyclin D1, oestrogen receptor (ER) and progesterone receptor (PR), Ki67, and vimentin and classified according to World Health Organization (2014) criteria into LG-ESS, HG-ESS, and undifferentiated uterine sarcoma (UUS). Molecular characterization was performed by fluorescence in situ hybridization using relevant probes. Results: Over a 4-year period, 552 cases of endometrial malignancies were reported, 10 of which were ESS (1.8%). Of these, 5 were LG-ESS, 3 HG-ESS, and 2 UUS. CD10 was 100% sensitive and 75% specific for LG-ESS. Oestrogen receptor and PR were 100% specific but less sensitive (80%) for LG-ESS. Forty per cent (2/5) of LG-ESS demonstrated JAZF1-SUZ12 gene rearrangement. All 3 cases of HG-ESS showed diffuse strong cyclin D1 (>70% nuclei) positivity and were negative for cluster differentiation 10, ER, and PR and demonstrated YWHAE gene rearrangement. None of the UUS cases demonstrated this gene rearrangement. Conclusion: Endometrial stromal sarcomas are rare tumours (1.8% in this study). JAZF1-SUZ12 and YWHAE-FAM22 gene rearrangement helps in accurate characterization of ESS and can be used as diagnostic tools especially when the diagnosis is unclear or difficult. Cyclin D1 can be used as an adjuvant immunomarker for YWHAE gene–rearranged HG-ESS.

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Current diagnosis and treatment of oligodendroglioma

Neurosurgical FOCUS ◽

10.3171/foc.2002.12.2.3 ◽

2002 ◽

Vol 12 (2) ◽

pp. 1-7 ◽

Cited By ~ 14

Author(s):

Herbert H. Engelhard

Keyword(s):

Molecular Characterization ◽

Postoperative Radiotherapy ◽

Tumor Resection ◽

World Health ◽

Therapeutic Modality ◽

Diagnostic Tools ◽

Low Grade ◽

Significant Finding ◽

The Past ◽

Response To Chemotherapy

Object The strategies used to diagnose and treat oligodendroglial tumors have changed significantly over the past decade. The purpose of this paper is to review the topic of oligodendroglioma, emphasizing the new developments. Methods Information was obtained by conducting a Medline search in which the term oligodendroglioma was used. Recent editions of standard textbooks were also studied. Because of tools such as magnetic resonance imaging, oligodendrogliomas are being diagnosed earlier, and they are being recognized more frequently histologically than in the past. Seizures are common in these patients. Functional mapping and image-guided surgery may now allow for a safer and more complete resection, especially when tumors are located in difficult areas. Genetic analysis and positron emission tomography may provide data that supplement the standard diagnostic tools. Unlike other low-grade gliomas, patients in whom residual or recurrent oligodendroglioma (World Health Organization Grade II) is present may respond to chemotherapy. Although postoperative radiotherapy prolongs survival of the patient, increasingly this therapeutic modality is being delayed until tumor recurrence, especially if a gross-total tumor resection has been achieved. Oligodendrogliomas are the first type of brain tumor for which “molecular” characterization gives important information. The most significant finding is that allelic losses on chromosomes 1p and 19q indicate a favorable response to chemotherapy. Conclusions Whereas surgery continues to be the primary treatment for oligodendroglioma, the scheme for postoperative therapy has shifted, primarily because of the lesion's relative chemosensitivity. Molecular characterization of oligodendrogliomas may become a standard practice in the near future.

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From genomics to the clinic: biological and translational insights of mutant IDH1/2 in glioma

Neurosurgical FOCUS ◽

10.3171/2012.12.focus12355 ◽

2013 ◽

Vol 34 (2) ◽

pp. E2 ◽

Cited By ~ 24

Author(s):

Gavin P. Dunn ◽

Ovidiu C. Andronesi ◽

Daniel P. Cahill

Keyword(s):

Hypoxia Inducible Factor ◽

Diagnostic Tools ◽

Low Grade ◽

Isocitrate Dehydrogenase 1 ◽

Treatment Algorithms ◽

Recurrent Mutations ◽

Molecular Landscape ◽

Mutant Idh1 ◽

And Function

The characterization of the genomic alterations across all human cancers is changing the way that malignant disease is defined and treated. This paradigm is extending to glioma, where the discovery of recurrent mutations in the isocitrate dehydrogenase 1 (IDH1) gene has shed new light on the molecular landscape in glioma and other IDH-mutant cancers. The IDH1 mutations are present in the vast majority of low-grade gliomas and secondary glioblastomas. Rapidly emerging work on the consequences of mutant IDH1 protein expression suggests that its neomorphic enzymatic activity catalyzing the production of the oncometabolite 2-hydroxyglutarate influences a range of cellular programs that affect the epigenome, transcriptional programs, hypoxia-inducible factor biology, and development. In the brief time since its discovery, knowledge of the IDH mutation status has had significant translational implications, and diagnostic tools are being used to monitor its expression and function. The concept of IDH1-mutant versus IDH1-wild type will become a critical early distinction in diagnostic and treatment algorithms.

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P08.68 Establishment and molecular characterization of patient derived cell lines from low grade glioma

Neuro-Oncology ◽

10.1093/neuonc/nox036.257 ◽

2017 ◽

Vol 19 (suppl_3) ◽

pp. iii69-iii69

Author(s):

A. Zaman

Keyword(s):

Molecular Characterization ◽

Cell Lines ◽

Low Grade Glioma ◽

Low Grade

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A34 Molecular characterization of Zika virus in Cuba

Virus Evolution ◽

10.1093/ve/vez002.033 ◽

2019 ◽

Vol 5 (Supplement_1) ◽

Author(s):

P A Martínez ◽

G Díaz ◽

E M Castillo ◽

M Álvarez ◽

E Santana ◽

...

Keyword(s):

Molecular Characterization ◽

Latin American ◽

Zika Virus ◽

Evolutionary Dynamics ◽

Western Hemisphere ◽

World Health ◽

Published Data ◽

Reference Laboratory ◽

Health Organization

Abstract Until now, three genotypes of Zika virus (ZIKV) have been detected (two African lineages and one Asian lineage). After the declaration of Public Health Emergency of International Concern issued by The Pan American Health Organization and the World Health Organization authors from some Latin American countries have identified the Asian genotype as the lineage responsible for the Zika epidemic in the western hemisphere. However, data from the Caribbean are sparse, and there is no published data regarding the genotypes that produced isolated outbreaks in Cuba. Aiming to realize the molecular characterization of ZIKV in Cuba, we will sequence by next-generation sequencing the full genome of the ZIKV identified in samples from Cuban patients of different provinces in which ZIKV produced outbreaks. All samples required for this study have been collected during the molecular surveillance of Arboviral diseases conducted at the National Reference Laboratory at Pedro Kourí Tropical Medicine Institute. Viral RNA will be purified from urine and serum samples collected from patients with confirmed ZIKV infection by real time PCR. Using evolutionary dynamics studies, we will map the spread of a virus or of particular variants in time and space in order to understand how frequently ZIKV has been introduced into Cuba. Moreover, we will evaluate the amino acid diversity of each ZIKV proteins. Further, we will evaluate the population dynamics of ZIKV in samples from patients with varying clinical outcomes. The results will allow us to characterize the ZIKV genome and its evolution into the Cuban population that would also have impact for vaccine development, diagnosis, and pathogenesis studies.

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TMOD-14. ESTABLISHMENT AND MOLECULAR CHARACTERIZATION OF PATIENT DERIVED CELL LINES FROM LOW GRADE GLIOMA

Neuro-Oncology ◽

10.1093/neuonc/now212.884 ◽

2016 ◽

Vol 18 (suppl_6) ◽

pp. vi209-vi210

Author(s):

Ashraf Zaman ◽

Robert Rapkins ◽

Sheri Nixdorf ◽

Charlie Teo ◽

Kerrie McDonald

Keyword(s):

Molecular Characterization ◽

Cell Lines ◽

Low Grade Glioma ◽

Low Grade

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Molecular characterization of microbial populations in a low-grade copper ore bioleaching test heap

Hydrometallurgy ◽

10.1016/j.hydromet.2005.07.013 ◽

2005 ◽

Vol 80 (4) ◽

pp. 241-253 ◽

Cited By ~ 114

Author(s):

Cecilia S. Demergasso ◽

Pedro A. Galleguillos P. ◽

Lorena V. Escudero G. ◽

Víctor J. Zepeda A. ◽

Danny Castillo ◽

...

Keyword(s):

Molecular Characterization ◽

Microbial Populations ◽

Low Grade ◽

Copper Ore

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Cellular and molecular characterization of IDH1-mutated diffuse low grade gliomas reveals tumor heterogeneity and absence of EGFR/PDGFRα activation

Glia ◽

10.1002/glia.23240 ◽

2017 ◽

Vol 66 (2) ◽

pp. 239-255 ◽

Cited By ~ 6

Author(s):

S. Azar ◽

N. Leventoux ◽

C. Ripoll ◽

V. Rigau ◽

C. Gozé ◽

...

Keyword(s):

Molecular Characterization ◽

Tumor Heterogeneity ◽

Low Grade ◽

Low Grade Gliomas

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Contemporary Renal Tumor Categorization With Biomarker and Translational Updates: A Practical Review

Archives of Pathology & Laboratory Medicine ◽

10.5858/arpa.2019-0442-ra ◽

2019 ◽

Vol 143 (12) ◽

pp. 1477-1491 ◽

Cited By ~ 2

Author(s):

Alexander S. Taylor ◽

Daniel E. Spratt ◽

Saravana M. Dhanasekaran ◽

Rohit Mehra

Keyword(s):

World Health Organization ◽

Molecular Characterization ◽

Renal Tumor ◽

Tumor Classification ◽

World Health ◽

Renal Tumors ◽

World Health Organization Classification ◽

The World ◽

Health Organization

Context.— Renal tumor classification has evolved in recent decades, as evidenced by the comparable complexity of the 2016 revision to the World Health Organization Classification of Tumours of the Urinary System and Male Genital Organs. A recent expansion of the knowledge base surrounding the cells of origin and evolutionary genomic characteristics of renal tumors has led to molecular characterization of novel entities and enriched understanding of established entities. This pace of research and its implementation into clinical practice has again begun to surpass that of our own classification schemata, with significant discoveries having been made since the introduction of the 2016 revision to the World Health Organization classification. In particular, biomarkers for renal tumor diagnosis and prognosis are in translation for future clinical application. Objectives.— To provide a brief framework for clinical characterization of renal tumors rooted in morphologic assessment, to briefly review the current and future status of renal tumor biomarkers with an emphasis on practical use of these ancillary tools for accurate diagnosis, and to discuss the impact of emerging technologies and clinical trials relevant to renal cell carcinoma classification and biomarker development. Data Sources.— We review recent literature relevant to renal tumor classification (including established and proposed entities), focusing on molecular characterization and biomarker assessment. Conclusions.— Accurate renal tumor diagnosis requires an up-to-date understanding of renal tumor classification, including an awareness of morphologic clues that should stimulate consideration of molecularly defined entities, as well as the ancillary biomarker testing required to confirm diagnoses.

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