School of Medicine, Ningbo University, Ningbo, China.
Department of Thoracic Surgery, Hwa Mei Hospital, University of Chinese Academy of Sciences, Ningbo, China.
Medicine (Baltimore). 2023 Jul 21;102(29):e34305. doi: 10.1097/MD.0000000000034305.
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.
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.
The patient was then diagnosed with stage IA lung adenocarcinoma (T1N0M0).
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.
The patient was discharged 3 days after surgery.
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.
重排基因在肺癌中发生率为 0.7%2%，非小细胞肺癌中发生率为 1%2%。RET 融合阳性非小细胞肺癌的系统治疗主要包括 RET 抑制剂的靶向治疗，如塞尔帕替尼和普拉替尼。迄今为止，大约有 40 种融合伙伴被报道。在此，我们报告了一例来自 I 期肺腺癌的新型孕激素免疫调节结合因子 1（PIBF1）-RET 基因融合，并通过 RNA 测序分析进一步验证。
一名 55 岁男性吸烟者，胸部计算机断层扫描发现右下肺有一个实性结节和纵隔淋巴结肿大。
患者随后被诊断为 I 期肺腺癌（T1N0M0）。
患者随后接受了右下肺叶切除术和纵隔淋巴结清扫术。对 8 个肺癌相关驱动基因的靶向panel 进行分子检测，发现了一种新型的 PIBF1-RET（P16：R12）融合，推测该融合基因编码了一个基因，其中 PIBF1 的前 16 个外显子与 RET 外显子 13 及其下游序列拼接，保留了 RET 激酶结构域。该基因组易位进一步通过 115 个癌症相关基因的 RNA 测序panel 进行验证，未发现其他异常。
患者术后 3 天出院。
我们报告了一例早期肺腺癌中新型的 PIBF1-RET 融合。这一发现扩展了 RET 融合伙伴的范围，需要进一步研究该基因组异常的致癌作用及其对 RET 靶向治疗的反应。
