AUTHOR=Xue Feng , Xu Shengyuan , Jiang Cailing , Kang Mafei , Usman Muhammad , Zhu Lin 

TITLE=Case report: Novel junctional sarcoplasmic reticulum protein 1 intergenic region–anaplastic lymphoma kinase fusion in a patient with lung adenocarcinoma responds to alectinib

JOURNAL=Frontiers in Oncology

VOLUME=12

YEAR=2022

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2022.1019624

DOI=10.3389/fonc.2022.1019624

ISSN=2234-943X

ABSTRACT=<p>Novel <italic>anaplastic lymphoma kinase</italic> (<italic>ALK</italic>) fusions are still being discovered in non-small cell lung cancer (NSCLC). Most patients with <italic>ALK</italic>+ NSCLC respond favorably to <italic>ALK</italic> tyrosine kinase inhibitors. In this case report, we identified a novel nonreciprocal <italic>ALK</italic> fusion, namely, <italic>junctional sarcoplasmic reticulum protein 1</italic> (<italic>JSRP1</italic>) intergenic region–<italic>ALK</italic> fusion (Jintergenic: A20) <italic>via</italic> next-generation sequencing in a female patient initially diagnosed with stage IV B lung adenocarcinoma. Further examination of biopsy specimen and analysis of clinical samples by a multidisciplinary team confirmed the diagnosis of <italic>ALK</italic>+ NSCLC. At the 2- and 4-months follow-up after receiving alectinib, the patient responded rapidly, implying that alectinib had a remarkable therapeutic effect. We identified a novel JSRP1 intergenic region–<italic>ALK</italic> fusion as a carcinogenic mutation that responds to alectinib, thereby expanding the spectrum of <italic>ALK</italic> fusion partners in <italic>ALK</italic> + NSCLC. This study may help clinicians detect oncogenic mutations and provide timely treatment to patients with <italic>ALK</italic>+ NSCLC.</p>