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Vol.61 No.4 contents

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- Case Report -

The Re-analysis of LC-SCRUM-Asia Successfully Detected an Overlooked ROS1 Fusion Gene in a Lung Adenocarcinoma Patient and Led to Proper Treatment

Kei Kunimasa¹, Shingo Matsumoto², Kazumi Nishino¹, Yoji Kukita³, Keiichiro Honma⁴, Motohiro Tamiya¹, Takako Inoue¹, Takahisa Kawamura¹, Koichi Goto², Toru Kumagai^1
1Department of Thoracic Oncology, Osaka International Cancer Institute, Japan, ²Department of Thoracic Oncology, National Cancer Center Hospital East, Japan, ³Laboratory of Genomic Pathology, ⁴Department of Diagnostic Pathology and Cytology, Osaka International Cancer Institute, Japan

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Background. A successful genetic analysis by accurate and quick next generation sequencing (NGS) has become essential in decision-making in relation to the treatment strategy for patients with advanced non-small cell lung cancer (NSCLC). We report the case of a female NSCLC patient in a country in which no driver mutations had been detected. A targetable driver mutation was successfully detected through the re-evaluation of LC-SCRUM-Asia (Lung Cancer Genomic Screening Project for Individualized Medicine in Asia). Case. A 49-year-old, never-smoking woman was diagnosed with advanced lung adenocarcinoma based on the histopathological analysis of a surgical biopsy specimen of her right cervical lymph node in Vietnam. NGS, which was performed using the specimen that was resected in her country did not detect any driver mutations. She came to Japan with the hope of undergoing a re-examination with NGS. The second NGS analysis through LC-SCRUM-Asia using her pleural effusion successfully detected the SDC4-ROS1 fusion gene, leading to treatment with crizotinib. An evaluation of the quality of DNA and RNA from the surgically resected metastatic cervical lymph node revealed severe fragmentation of DNA, which seemed to be caused by formalin over-fixation. Conclusion. It is necessary to consider the storage condition when submitting samples for NGS. Global quality management is also required for the application NGS in precision medicine.
key words: Next generation sequence, ROS1 fusion gene, LC-SCRUM-Asia, Quality of nucleotide

Received: January 12, 2021
Accepted: March 13, 2021

JJLC 61 (4): 303-309, 2021