PMID- 37572583
OWN - NLM
STAT- MEDLINE
DCOM- 20231120
LR  - 20231121
IS  - 2210-7762 (Print)
VI  - 278-279
DP  - 2023 Nov
TI  - Identification of a novel RSRC1-ALK (R6: A20) fusion using next-generation 
      sequencing technique.
PG  - 18-23
LID - S2210-7762(23)00053-4 [pii]
LID - 10.1016/j.cancergen.2023.08.003 [doi]
AB  - Non-small-cell lung cancer (NSCLC) patients with anaplastic lymphoma kinase (ALK) 
      fusion showed promising responses to ALK tyrosine kinase inhibitors (TKIs). In 
      this study, fluorescence in situ hybridization (FISH), immunohistochemistry 
      (IHC), next generation sequencing (NGS) and Sanger sequencing were performed to 
      identify the presence of ALK fusion, to investigate whether the patient may 
      benefit from TKI therapy. Postoperative pathological analysis indicated invasive 
      adenocarcinoma with mainly mucinous type and partial micropapillary type in left 
      lower lung. Minimally invasive adenocarcinoma was seen in left upper lung, with 
      mainly acinar type. NGS detected a novel RSRC1-ALK (R6: A20) fusion in left lower 
      lobe sample, which was presented as the fusion of exon 6 of RSRC1 and exon 20 of 
      ALK gene. Sanger sequencing validated the fusion. Break rearrangement signal of 
      ALK gene was detected in 80% of tumor cells. Immunohistochemistry showed ALK 
      positive expression in lung. For the treatment, the patient received ensartinib 
      hydrochloride with a dose of 225 mg per day. He was in a state of 
      progression-free survival for at least 24 months in follow-up with no 
      complications. NGS can be used for exploring treatment options for NSCLC patients 
      with ALK fusion.
CI  - Copyright (c) 2023 Elsevier Inc. All rights reserved.
FAU - Xia, Jingjing
AU  - Xia J
AD  - Department of Medical Examination, Huai'an First People's Hospital, Nanjing 
      Medical University, Huai'an 223300, PR China.
FAU - Chen, Sheng
AU  - Chen S
AD  - Department of Thoracic Surgery, Huai'an First People's Hospital, Nanjing Medical 
      University, Huai'an 223300, PR China.
FAU - Zhang, Zhujian
AU  - Zhang Z
AD  - Omigen, Inc., Hangzhou 310000, PR China.
FAU - Wang, Jipeng
AU  - Wang J
AD  - Department of Respiration, Huai'an First People's Hospital, Nanjing Medical 
      University, Huai'an 223300, PR China. Electronic address: hayywjp@njmu.edu.cn.
LA  - eng
PT  - Journal Article
DEP - 20230809
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - EC 2.7.10.1 (Anaplastic Lymphoma Kinase)
RN  - 0 (Protein Kinase Inhibitors)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RSRC1 protein, human)
RN  - 0 (Nuclear Proteins)
SB  - IM
MH  - Male
MH  - Humans
MH  - Anaplastic Lymphoma Kinase/genetics
MH  - *Carcinoma, Non-Small-Cell Lung/drug therapy
MH  - *Lung Neoplasms/pathology
MH  - In Situ Hybridization, Fluorescence/methods
MH  - *Adenocarcinoma/genetics
MH  - Protein Kinase Inhibitors/therapeutic use
MH  - High-Throughput Nucleotide Sequencing
MH  - Oncogene Proteins, Fusion/genetics
MH  - Nuclear Proteins/genetics
OTO - NOTNLM
OT  - ALK fusion mutation
OT  - ASB3-ALK
OT  - Non-small cell lung cancer
OT  - RSRC1-ALK
OT  - Synchronous multiple primary lung cancer
COIS- Declaration of Competing Interest The authors declare the following financial 
      interests/personal relationships which may be considered as potential competing 
      interests: Author Zhujian Zhang is employed by Omigen, Inc.. The remaining 
      authors declare that the research was conducted in the absence of any commercial 
      or financial relationships that could be construed as a potential conflict of 
      interest.
EDAT- 2023/08/13 00:43
MHDA- 2023/11/20 06:55
CRDT- 2023/08/12 18:09
PHST- 2023/04/21 00:00 [received]
PHST- 2023/07/27 00:00 [revised]
PHST- 2023/08/07 00:00 [accepted]
PHST- 2023/11/20 06:55 [medline]
PHST- 2023/08/13 00:43 [pubmed]
PHST- 2023/08/12 18:09 [entrez]
AID - S2210-7762(23)00053-4 [pii]
AID - 10.1016/j.cancergen.2023.08.003 [doi]
PST - ppublish
SO  - Cancer Genet. 2023 Nov;278-279:18-23. doi: 10.1016/j.cancergen.2023.08.003. Epub 
      2023 Aug 9.