Primary Esophageal Mixed Sarcomatoid and Small Cell Neuroendocrine Carcinoma With Brain Metastasis: A Challenging Diagnosis on Biopsy

2018 ◽  
Vol 27 (1) ◽  
pp. 84-88 ◽  
Author(s):  
Christopher J. Schwartz ◽  
Richard Hickman ◽  
Xuchen Zhang ◽  
Antonio Galvao Neto ◽  
Esther Adler
Keyword(s):  
Next Generation Sequencing ◽  
Brain Metastasis ◽  
Cell Carcinoma ◽  
Small Cell ◽  
Cell Component ◽  
Diagnostic Challenge ◽  
Small Cell Neuroendocrine Carcinoma ◽  
Carcinoma Of The Esophagus ◽  
Repeat Sampling ◽  
Generation Sequencing

Mixed carcinomas in the esophagus are highly uncommon neoplasms that represent a diagnostic challenge on small tissue biopsies. We present a case of a primary mixed sarcomatoid–small cell carcinoma of the esophagus that was diagnosed after repeat sampling of the lesion. The components were morphologically distinct and could be further classified by immunohistochemistry. Next-generation sequencing identified mutations in PIK3CA and CDKN2A. The small cell component morphology was also identified in brain metastasis.

Abstract 1535: Next generation sequencing of brain metastasis in non-small cell lung cancer

2016 ◽  
Author(s):  
Bryan Thibodeau ◽  
Paola Yumpo Cardenas ◽  
Samreen Ahmed ◽  
Marc Dunn ◽  
Matthew Johnson ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Next Generation Sequencing ◽  
Brain Metastasis ◽  
Small Cell Lung Cancer ◽  
Cell Lung Cancer ◽  
Small Cell ◽  
Next Generation ◽  
Small Cell Lung ◽  
Generation Sequencing

scholarly journals Identification of A Novel FRK-ROS1 Fusion Variant in Advanced Non-Small Cell Lung Cancer with Brain Metastases and Remarkable Response to Crizotinib

2021 ◽  
Author(s):  
Li-xin Wu ◽  
Wen-xian Wang ◽  
Chun-wei Xu ◽  
Wei-hu Huang ◽  
Xiao-jie Chen ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Next Generation Sequencing ◽  
Brain Metastasis ◽  
Small Cell Lung Cancer ◽  
Small Cell ◽  
Small Cell Lung ◽  
First Line ◽  
Next Generation Sequencing Ngs ◽  
The Brain ◽  
Generation Sequencing

Abstract ROS1-rearranged non-small cell lung cancer (NSCLC) is a subset of NSCLC patients with unique malignant behavior and clinical course. Crizotinib, a multi-targeted ALK/ROS1/MET tyrosine kinase inhibitor (TKI), has promising significant activity in NSCLC with ROS1-rearrangement. The next-generation sequencing (NGS) is commonly used to identify the “druggable” genetic alterations in clinical practice. We identified a novel ROS1 fusion variant (FRK-ROS1) in a de novo stage IV NSCLC patient by NGS testing. This novel ROS1-rearrangement is generated by the fusion FRK to ROS1. The patient was remarkably responsive to crizotinib including the brain metastasis. A 29-year-old male never-smoker with chief complaints of back pain with a lumpy and flaky soft tissue mass in the upper right lobe of the lung and diffuse ground-glass shadow in both lungs e IV (cT4N3M1b). A CT-guided biopsy revealed the predominant adenocarcinoma and partial mucinous adenocarcinoma. By using next-generation sequencing (NGS) assay, we found that the tumor had FRK-ROS1 fusion rather than other actionable mutations. In that case, the patient took the first-line crizotinib and experienced a remarkable tumor response to it and tolerance well until written. FRK-ROS1 is a novel ROS1 fusion variant in NSCLC identified by NGS testing and the first-line crizotinib showed excellent performance in all lesions including the brain metastasis.

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