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Clinicopathological Characteristics of NRG1 Fusion-Positive Solid Tumors in Korean Patients

 Yoon Jin Cha  ;  Chung Lee  ;  Bio Joo  ;  Kyung A Kim  ;  Choong-Kun Lee  ;  Hyo Sup Shim 
 CANCER RESEARCH AND TREATMENT, Vol.55(4) : 1087-1095, 2023-10 
Journal Title
Issue Date
Adenocarcinoma* / pathology ; Adult ; Aged ; Female ; Humans ; Lung Neoplasms* / genetics ; Male ; Middle Aged ; Neuregulin-1 / genetics ; Neuregulin-1 / metabolism ; Republic of Korea ; Retrospective Studies
Genomics ; NRG1 fusion ; Pathology ; Solid tumor ; Targeted therapy
Purpose: Neuregulin 1 (NRG1) gene fusion is a potentially actionable oncogenic driver. The oncoprotein binds to ERBB3-ERBB2 heterodimers and activates downstream signaling, supporting a therapeutic approach for inhibiting ERBB3/ERBB2. However, the frequency and clinicopathological features of solid tumors harboring NRG1 fusions in Korean patients remain largely unknown.

Materials and methods: We reviewed archival data from next-generation sequencing panel tests conducted at a single institution, specifically selecting patients with in-frame fusions that preserved the functional domain. The clinicopathological characteristics of patients harboring NRG1 fusions were retrospectively reviewed.

Results: Out of 8,148 patients, NRG1 fusions were identified in 22 patients (0.27%). The average age of the patients was 59 years (range, 32 to 78 years), and the male-to-female ratio was 1:1.2. The lung was the most frequently observed primary site (n=13), followed by the pancreaticobiliary tract (n=3), gastrointestinal tract (n=2, stomach and rectum each), ovary (n=2), breast (n=1), and soft tissue (n=1). Histologically, all tumors demonstrated adenocarcinoma histology, with the exception of one case of sarcoma. CD74 (n=8) and SLC3A2 (n=4) were the most frequently identified fusion partners. Dominant features included the presence of fewer than three co-occurring genetic alterations, a low tumor mutation burden, and low programmed death-ligand 1 expression. Various clinical responses were observed in patients with NRG1 fusions.

Conclusion: Despite the rarity of NRG1 fusions in Korean patients with solid tumors, identification through next-generation sequencing enables the possibility of new targeted therapies.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
Yonsei Authors
Shim, Hyo Sup(심효섭) ORCID logo https://orcid.org/0000-0002-5718-3624
Lee, Chung(이청) ORCID logo https://orcid.org/0000-0003-0855-4553
Lee, Choong-kun(이충근) ORCID logo https://orcid.org/0000-0001-5151-5096
Joo, Bio(주비오) ORCID logo https://orcid.org/0000-0001-7460-1421
Cha, Yoon Jin(차윤진) ORCID logo https://orcid.org/0000-0002-5967-4064
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