Cargando…

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

Novel anaplastic lymphoma kinase (ALK) fusions are still being discovered in non-small cell lung cancer (NSCLC). Most patients with ALK+ NSCLC respond favorably to ALK tyrosine kinase inhibitors. In this case report, we identified a novel nonreciprocal ALK fusion, namely, junctional sarcoplasmic ret...

Descripción completa

Detalles Bibliográficos
Autores principales: Xue, Feng, Xu, Shengyuan, Jiang, Cailing, Kang, Mafei, Usman, Muhammad, Zhu, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577405/
https://www.ncbi.nlm.nih.gov/pubmed/36267987
http://dx.doi.org/10.3389/fonc.2022.1019624
_version_ 1784811749534334976
author Xue, Feng
Xu, Shengyuan
Jiang, Cailing
Kang, Mafei
Usman, Muhammad
Zhu, Lin
author_facet Xue, Feng
Xu, Shengyuan
Jiang, Cailing
Kang, Mafei
Usman, Muhammad
Zhu, Lin
author_sort Xue, Feng
collection PubMed
description Novel anaplastic lymphoma kinase (ALK) fusions are still being discovered in non-small cell lung cancer (NSCLC). Most patients with ALK+ NSCLC respond favorably to ALK tyrosine kinase inhibitors. In this case report, we identified a novel nonreciprocal ALK fusion, namely, junctional sarcoplasmic reticulum protein 1 (JSRP1) intergenic region–ALK fusion (Jintergenic: A20) via 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 ALK+ 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–ALK fusion as a carcinogenic mutation that responds to alectinib, thereby expanding the spectrum of ALK fusion partners in ALK + NSCLC. This study may help clinicians detect oncogenic mutations and provide timely treatment to patients with ALK+ NSCLC.
format Online
Article
Text
id pubmed-9577405
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-95774052022-10-19 Case report: Novel junctional sarcoplasmic reticulum protein 1 intergenic region–anaplastic lymphoma kinase fusion in a patient with lung adenocarcinoma responds to alectinib Xue, Feng Xu, Shengyuan Jiang, Cailing Kang, Mafei Usman, Muhammad Zhu, Lin Front Oncol Oncology Novel anaplastic lymphoma kinase (ALK) fusions are still being discovered in non-small cell lung cancer (NSCLC). Most patients with ALK+ NSCLC respond favorably to ALK tyrosine kinase inhibitors. In this case report, we identified a novel nonreciprocal ALK fusion, namely, junctional sarcoplasmic reticulum protein 1 (JSRP1) intergenic region–ALK fusion (Jintergenic: A20) via 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 ALK+ 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–ALK fusion as a carcinogenic mutation that responds to alectinib, thereby expanding the spectrum of ALK fusion partners in ALK + NSCLC. This study may help clinicians detect oncogenic mutations and provide timely treatment to patients with ALK+ NSCLC. Frontiers Media S.A. 2022-10-04 /pmc/articles/PMC9577405/ /pubmed/36267987 http://dx.doi.org/10.3389/fonc.2022.1019624 Text en Copyright © 2022 Xue, Xu, Jiang, Kang, Usman and Zhu https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Xue, Feng
Xu, Shengyuan
Jiang, Cailing
Kang, Mafei
Usman, Muhammad
Zhu, Lin
Case report: Novel junctional sarcoplasmic reticulum protein 1 intergenic region–anaplastic lymphoma kinase fusion in a patient with lung adenocarcinoma responds to alectinib
title Case report: Novel junctional sarcoplasmic reticulum protein 1 intergenic region–anaplastic lymphoma kinase fusion in a patient with lung adenocarcinoma responds to alectinib
title_full Case report: Novel junctional sarcoplasmic reticulum protein 1 intergenic region–anaplastic lymphoma kinase fusion in a patient with lung adenocarcinoma responds to alectinib
title_fullStr Case report: Novel junctional sarcoplasmic reticulum protein 1 intergenic region–anaplastic lymphoma kinase fusion in a patient with lung adenocarcinoma responds to alectinib
title_full_unstemmed Case report: Novel junctional sarcoplasmic reticulum protein 1 intergenic region–anaplastic lymphoma kinase fusion in a patient with lung adenocarcinoma responds to alectinib
title_short Case report: Novel junctional sarcoplasmic reticulum protein 1 intergenic region–anaplastic lymphoma kinase fusion in a patient with lung adenocarcinoma responds to alectinib
title_sort case report: novel junctional sarcoplasmic reticulum protein 1 intergenic region–anaplastic lymphoma kinase fusion in a patient with lung adenocarcinoma responds to alectinib
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577405/
https://www.ncbi.nlm.nih.gov/pubmed/36267987
http://dx.doi.org/10.3389/fonc.2022.1019624
work_keys_str_mv AT xuefeng casereportnoveljunctionalsarcoplasmicreticulumprotein1intergenicregionanaplasticlymphomakinasefusioninapatientwithlungadenocarcinomarespondstoalectinib
AT xushengyuan casereportnoveljunctionalsarcoplasmicreticulumprotein1intergenicregionanaplasticlymphomakinasefusioninapatientwithlungadenocarcinomarespondstoalectinib
AT jiangcailing casereportnoveljunctionalsarcoplasmicreticulumprotein1intergenicregionanaplasticlymphomakinasefusioninapatientwithlungadenocarcinomarespondstoalectinib
AT kangmafei casereportnoveljunctionalsarcoplasmicreticulumprotein1intergenicregionanaplasticlymphomakinasefusioninapatientwithlungadenocarcinomarespondstoalectinib
AT usmanmuhammad casereportnoveljunctionalsarcoplasmicreticulumprotein1intergenicregionanaplasticlymphomakinasefusioninapatientwithlungadenocarcinomarespondstoalectinib
AT zhulin casereportnoveljunctionalsarcoplasmicreticulumprotein1intergenicregionanaplasticlymphomakinasefusioninapatientwithlungadenocarcinomarespondstoalectinib