scholarly journals Metaplastic papillary tumour of the fallopian tube, a rare entity, analysed by next‐generation sequencing

2020 ◽  
Vol 76 (6) ◽  
pp. 923-924
Author(s):  
Sandra Sunitsch ◽  
Julia Reisinger ◽  
Luca Abete ◽  
Karl Kashofer ◽  
Peter Regitnig
Keyword(s):  
Next Generation Sequencing ◽  
Fallopian Tube ◽  
Rare Entity ◽  
Next Generation ◽  
Papillary Tumour ◽  
Generation Sequencing

Ovarian Carcinosarcoma and Concurrent Serous Tubal Intraepithelial Carcinoma With Next-Generation Sequencing Suggesting an Origin From the Fallopian Tube

2019 ◽  
Vol 27 (5) ◽  
pp. 574-579 ◽  
Author(s):  
Sharlene Helene C. See ◽  
Amir Behdad ◽  
Kruti P. Maniar ◽  
Luis Z. Blanco
Keyword(s):  
Next Generation Sequencing ◽  
Fallopian Tube ◽  
Tp53 Gene ◽  
Serous Carcinoma ◽  
High Grade ◽  
Next Generation ◽  
Serous Tubal Intraepithelial Carcinoma ◽  
Divergent Differentiation ◽  
Intraepithelial Carcinoma ◽  
Generation Sequencing

Background. Ovarian carcinosarcomas are rare aggressive biphasic tumors. Evidence suggests that these tumors are monoclonal and that the sarcoma component is derived from a stem cell undergoing divergent differentiation. Currently, there remains a paucity of data regarding its origin, with few reports suggesting an association with serous tubal intraepithelial carcinoma (STIC) by immunohistochemistry and genetics. Objective. We sought to determine the relationship of carcinosarcoma to high-grade serous carcinoma and STIC by investigating for similar mutation signatures through next-generation sequencing. Methodology. A case of carcinosarcoma with associated high-grade serous carcinoma and STIC was macrodissected, and next-generation sequencing was performed on each component separately. Results. The STIC, high-grade serous carcinoma component, and chondrosarcoma component were all diffusely positive for p53 and p16 by immunohistochemistry. Next-generation sequencing demonstrated an identical TP53 gene c.376-1G>A 5’ splice site pathogenic mutation in all 3 components. Conclusions. Our findings suggest that carcinosarcomas may also originate from the fallopian tube.

Labordiagnostik bei gastrointestinalen Tumoren

2020 ◽  
Vol 11 (05) ◽  
pp. 232-238
Author(s):  
Marcus Kleber
Keyword(s):  
Next Generation Sequencing ◽  
Kolorektales Karzinom ◽  
Next Generation ◽  
Generation Sequencing

ZUSAMMENFASSUNGDas kolorektale Karzinom (KRK) ist einer der häufigsten malignen Tumoren in Deutschland. Einer frühzeitigen Diagnostik kommt große Bedeutung zu. Goldstandard ist hier die Koloskopie. Die aktuelle S3-Leitlinie Kolorektales Karzinom empfiehlt zum KRK-Screening den fäkalen okkulten Bluttest. Für das Monitoring von Patienten vor und nach Tumorresektion werden die Messung des Carcinoembryonalen Antigens (CEA) und der Mikrosatellitenstabilität empfohlen. Für die Auswahl der korrekten Chemotherapie scheint derzeit eine Überprüfung des Mutationsstatus, mindestens des KRAS-Gens und des BRAF-Gens, sinnvoll zu sein. Eine Reihe an neuartigen Tumormarkern befindet sich momentan in der Entwicklung, hat jedoch noch nicht die Reife für eine mögliche Anwendung in der Routinediagnostik erreicht. Den schnellsten Weg in die breite Anwendung können Next-Generation-Sequencing-basierte genetische Tests finden.

Next-Generation Sequencing of Sporadic Schwannomas Reveals Critical Importance of NF2 Alteration

2016 ◽  
Vol 77 (S 01) ◽  
Author(s):  
Pankaj Agarwalla ◽  
Wenya Bi ◽  
William Gibson ◽  
Shakti Ramkissoon ◽  
Steven Schumacher ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Critical Importance ◽  
Generation Sequencing
Sign in / Sign up

Export Citation Format

Share Document