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Updated: Jul 22, 2025
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
A novel PIBF1-RET gene fusion identified from a stage IA lung adenocarcinoma: A case report
Weidi Zhao1, Jia'en Sun1, Huangkai Zhu2
1School of Medicine, Ningbo University, Ningbo, China.
Introduction:
Rearranged during transfection (RET) gene fusions occur in 0.7% to 2% in lung cancer and 1% to 2% in non-small cell lung cancer. Systemic therapies for RET fusion-positive non-small cell lung cancer consist mostly of targeted therapy with RET inhibitors such as selpercatinib and pralsetinib. To date, approximately 40 fusion partners have been reported. Herein, we report a novel progesterone immunomodulatory binding factor 1 (PIBF1)-RET gene fusion identified from a stage IA lung adenocarcinoma and was further validated by RNA sequencing analysis.
Patient Concerns:
A 55-year-old male smoker was found by chest computed tomography to have a solid nodule in the right lower lobe of the lung and enlarged mediastinal lymph nodes.
Diagnoses:
The patient was then diagnosed with stage IA lung adenocarcinoma (T1N0M0).
Intervention:
The patient then underwent thoracoscopic lobectomy of the right lower lobe and mediastinal lymph node dissection. Molecular testing with a targeted panel of 8 lung cancer-associated driver genes detected a novel PIBF1-RET (P16:R12) fusion, which putatively encodes a gene in which the first 16 exons of PIBF1 was concatenated to RET exon 13 and its downstream sequence, retaining the RET kinase domain. The genomic translocation was further validated by RNA sequencing with a panel of 115 cancer-associated genes, which found no other aberrations.
Outcomes:
The patient was discharged 3 days after surgery.
Conclusion:
We report a novel PIBF1-RET fusion in early-stage lung adenocarcinoma. This finding expands the spectrum of RET fusion partners and warrants further studies in characterizing the oncogenic role of this genomic aberration and response to RET-targeted therapies.
Insights
A novel progesterone immunomodulatory binding factor 1 (PIBF1)-RET gene fusion was identified in early-stage lung adenocarcinoma. This discovery expands known RET fusion partners and may inform future targeted therapy strategies for lung cancer.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Rearranged during transfection (RET) gene fusions are oncogenic drivers in a subset of lung cancers, including non-small cell lung cancer (NSCLC).
- Current treatments for RET fusion-positive NSCLC primarily involve targeted therapies with RET inhibitors like selpercatinib and pralsetinib.
- Over 40 RET fusion partners have been previously documented in lung cancer research.
Observation:
- A 55-year-old male smoker presented with a lung nodule and enlarged mediastinal lymph nodes.
- Diagnostic imaging led to a diagnosis of stage IA lung adenocarcinoma (T1N0M0).
Findings:
- Surgical resection and molecular testing revealed a novel progesterone immunomodulatory binding factor 1 (PIBF1)-RET gene fusion (P16:R12).
- This fusion involves the first 16 exons of PIBF1 fused to RET exon 13, preserving the RET kinase domain.
- RNA sequencing confirmed the PIBF1-RET fusion as the sole detected genomic aberration.
Implications:
- The identification of PIBF1-RET expands the known repertoire of RET fusion partners in lung adenocarcinoma.
- Further research is warranted to elucidate the specific oncogenic role of the PIBF1-RET fusion.
- This finding may guide the development and application of RET-targeted therapies for patients with this specific genomic alteration.
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