scholarly journals Next-Generation Sequencing Coupled With in situ Hybridization: A Novel Diagnostic Platform to Investigate Swine Emerging Pathogens and New Variants of Endemic Viruses

2019 ◽  
Vol 6 ◽  
Author(s):  
Talita P. Resende ◽  
Lacey Marshall Lund ◽  
Stephanie Rossow ◽  
Fabio A. Vannucci
Keyword(s):  
In Situ Hybridization ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Emerging Pathogens ◽  
Generation Sequencing

Novel and established EWSR1 gene fusions and associations identified by next-generation sequencing and fluorescence in-situ hybridization

2019 ◽  
Vol 93 ◽  
pp. 65-73 ◽  
Author(s):  
Melissa Krystel-Whittemore ◽  
Martin S. Taylor ◽  
Miguel Rivera ◽  
Jochen K. Lennerz ◽  
Long P. Le ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Next Generation Sequencing ◽  
Fluorescence In Situ Hybridization ◽  
Gene Fusions ◽  
Next Generation ◽  
Ewsr1 Gene ◽  
Generation Sequencing

scholarly journals Comparison of MET gene amplification analysis by next-generation sequencing and fluorescence in situ hybridization

Oncotarget ◽  
2021 ◽  
Vol 12 (22) ◽  
pp. 2273-2282
Author(s):  
Christina Schmitt ◽  
Anna-Alice Schulz ◽  
Ria Winkelmann ◽  
Kevin Smith ◽  
Peter J. Wild ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Next Generation Sequencing ◽  
Fluorescence In Situ Hybridization ◽  
Gene Amplification ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Renal Tumors with Oncocytic and Papillary Features: A Phenotypic and Genotypic Study

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 184
Author(s):  
Tania Franceschini ◽  
Francesca Giunchi ◽  
Veronica Mollica ◽  
Annalisa Altimari ◽  
Elisa Capizzi ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Next Generation Sequencing ◽  
Collision Tumor ◽  
Allelic Frequency ◽  
Renal Tumors ◽  
Genetic Profile ◽  
Next Generation ◽  
Kidney Tumors ◽  
Generation Sequencing

The occurrence of kidney oncocytic lesions with an admixed papillary component is not unusual in routine pathology practice. These neoplasms with dual morphology are classically recognized as collision tumors with variable malignant potential. Using immunohistochemistry, we investigated fluorescent in situ hybridization and next generation sequencing of the genetic and phenotypic profiles in the two components of 11 kidney tumors with colliding oncocytic and papillary features. The oncocytic component was CD117 positive, CK7 negative, and AMACR negative; the papillary component was CK7 positive, AMACR positive, and CD117 negative in all cases. Fluorescence in situ hybridization (FISH) results were inconsistent. Next generation sequencing (NGS) analysis demonstrated that the mutations identified in the two tumor components were identical and displayed an allelic frequency of approximately 50%, strongly suspicious for genetic polymorphisms. The two oncocytic and papillary tumor counterparts shared the same genetic profile and did not harbor pathogenic mutations. Clinical confirmation of the biological benign features of these tumors is required. The term collision tumor is not suitable for these neoplasms, and we propose the term oncopapillary tumor for this histological entity.

scholarly journals CIC-NUTM1 Sarcomas Affecting the Spine: A Subset of CIC-Rearranged Sarcomas Commonly Present in the Axial Skeleton

2021 ◽  
Author(s):  
Shaomin Yang ◽  
LiLi Liu ◽  
Yu Yan ◽  
Liang Jiang ◽  
Songbo Han ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Next Generation Sequencing ◽  
Fluorescence In Situ Hybridization ◽  
Soft Tissues ◽  
Locally Advanced ◽  
Axial Skeleton ◽  
Thoracic Vertebrae ◽  
Next Generation ◽  
Generation Sequencing

Context.— Tumors harboring CIC-NUTM1 fusion are a newly recognized rare sarcoma, but the documented cases are still limited. It is unclear whether it is the same as classic CIC-DUX4 sarcoma in terms of its clinical, pathologic, and behavioral aspects. Objective.— To further explore the clinicopathologic characteristics of CIC-NUTM1 sarcoma. Design.— The cases were diagnosed based on immunophenotype, next-generation sequencing, and fluorescence in situ hybridization tests and compared with the reported CIC-NUTM1 sarcomas in the literature. Results.— Three cases of CIC-NUTM1 sarcomas involving the spine in adults were described. They were 2 men and 1 woman, aged 38 to 61 years. Two tumors were located in thoracic vertebrae and 1 in a cervical vertebra. All were locally advanced lesions destroying the bone and soft tissues without spinal cord involvement or metastasis. The tumors were composed of monomorphic small to medium-sized cells with round to epithelioid appearance. The architecture was lobulated and solid with diffuse or multifocal myxoid stroma. Next-generation sequencing revealed an in-frame fusion between CIC (exon 16 or 17) and NUTM1 (exon 5 or 6) in 3 cases. Fluorescence in situ hybridization confirmed CIC and NUTM1 breaks, and immunohistochemistry showed NUT staining in the nucleus. The patients died of disease 8 to 15 months (mean, 10.7 months) after presentation. Of the CIC-NUTM1 sarcomas reported in the literature along with our cases (n = 11), 8 cases developed in axial bone (5 spine, 3 skull base). Conclusions.— CIC-NUTM1 sarcomas showed distinct anatomic tropism for the axial skeleton and unfavorable behavior compared with classic CIC sarcoma.

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