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.

scholarly journals Serous Tubal Intraepithelial Carcinoma or Not? Metastases to Fallopian Tube Mucosa Can Masquerade as In Situ Lesions

2017 ◽  
Vol 141 (10) ◽  
pp. 1313-1315 ◽  
Author(s):  
Reena Singh ◽  
Kathleen R. Cho
Keyword(s):  
Fallopian Tube ◽  
De Novo ◽  
Data Sources ◽  
High Grade ◽  
Serous Tubal Intraepithelial Carcinoma ◽  
Different Types ◽  
Intraepithelial Carcinoma ◽  
A Site ◽  
Immunohistochemical Stains

Context.— Nonuterine high-grade serous carcinomas (HGSCs) are believed to arise most often from precursors in the fallopian tube referred to as serous tubal intraepithelial carcinomas (STICs). A designation of tubal origin has been suggested for all cases of nonuterine HGSC if a STIC is identified. Objective.— To highlight that many different types of nongynecologic and gynecologic carcinomas, including HGSC, can metastasize to the tubal mucosa and mimic de novo STIC. Data Sources.— A mini-review of several recently published studies that collectively examine STIC-like lesions of the fallopian tube. Conclusions.— The fallopian tube mucosa can be a site of metastasis from carcinomas arising elsewhere, and pathologists should exercise caution in diagnosing STIC without first considering the possibility of metastasis. Routinely used immunohistochemical stains can often be used to determine if a STIC-like lesion is tubal or nongynecologic in origin. In the context of uterine and nonuterine HGSC, STIC may represent a metastasis rather than the site of origin, particularly when widespread disease is present.

scholarly journals Detection of EGFR Mutation Distribution and Transcriptional Variants in IDH-Wildtype High-Grade Gliomas Using a Next-Generation Sequencing Oncopanel

2021 ◽  
Author(s):  
Nayuta Higa ◽  
Toshiaki Akahane ◽  
Taiji Hamada ◽  
Hajime Yonezawa ◽  
Hiroyuki Uchida ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Receptor Gene ◽  
Kinase Domain ◽  
The Cancer Genome Atlas ◽  
Cancer Center ◽  
High Grade ◽  
Next Generation ◽  
Transcriptional Variants ◽  
High Grade Gliomas ◽  
Generation Sequencing

Abstract \Purpose: To detect the epidermal growth factor receptor gene (EGFR) mutation profile and transcriptional variants in high-grade gliomas (HGGs), we sequenced EGFR and evaluated the EGFR splicing profile using a next-generation sequencing (NGS) oncopanel. Methods: We analyzed 124 HGGs—10 grade Ⅲ IDH-wildtype anaplastic astrocytomas (AAs) and 114 grade Ⅳ IDH-wildtype glioblastomas (GBMs). Results: The EGFR mutations were observed in 6.0% of grade Ⅳ GBMs and in 33% of grade Ⅲ AAs. Four cases harbored missense mutations in the EGFR kinase domain (L747A, S768I, V774M, and T790M). A total of 25% of the GBMs showed EGFR amplification. Moreover, 27% of the EGFR mutations occurred in the kinase domain. EGFRvⅢ positivity was detected in 8.0% of EGFR-amplified GBMs. We identified two other EGFR variants in GBM cases with deletions of exons 6–7 (Δe 6-7) (one case) and exons 2–14 (Δe 2-14) (two cases). Interestingly, in one case, the initial EGFRvIII mutation transformed into an EGFR Δe 2-14 mutation during recurrence. The frequency of EGFR alterations in our cohort was lower but the frequency of EGFR mutations in the kinase domain in our cohort was higher than that in The Cancer Genome Atlas and Memorial Sloan Kettering Cancer Center cohorts. Conclusions: We suggested that the EGFR gene profiles of GBM differ among cohorts and identified rare EGFR variants with longitudinal and temporal transformations of EGFRvⅢ.

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