# A Case Report of Lung Adenocarcinoma with EGFR G719A Mutation and LMNA-NTRK1 Fusion

## TL;DR

This paper reports a rare case of lung cancer with both an EGFR mutation and an LMNA-NTRK1 fusion, highlighting their co-occurrence.

## Contribution

The novelty is the first reported case of EGFR G719A mutation and LMNA-NTRK1 fusion co-occurring in lung adenocarcinoma.

## Key findings

- A primary lung adenocarcinoma case with EGFR G719A mutation and LMNA-NTRK1 fusion was identified.
- NTRK fusions and EGFR mutations are typically mutually exclusive in NSCLC.
- This case suggests a potential overlap in oncogenic pathways that warrants further investigation.

## Abstract

神经营养受体酪氨酸激酶（neurotrophic receptor tyrosine kinase, NTRK）的融合变异是多种成人和儿科恶性实体瘤的致癌驱动因素，如乳腺癌、唾液腺癌以及婴儿纤维肉瘤等。NTRK1/2/3的基因重排导致原肌球蛋白受体激酶（tropomyosin receptor kinase, TRK）结构域的组成型激活，表达的融合蛋白驱动肿瘤生长和存活。在非小细胞肺癌（non-small cell lung cancer, NSCLC）中，NTRK融合发生的频率为0.1%-1%。表皮生长因子受体（epidermal growth factor receptor, EGFR）在NSCLC中为常见突变，但EGFR G719A突变发生频率较低（约2%），且EGFR突变通常和NTRK融合变异互斥。本文首次报道1例原发性肺腺癌组织中同时伴有EGFR G719A突变和LMNA-NTRK1融合变异的罕见病例，并通过文献复习探讨NTRK融合变异在NSCLC中的作用以及与EGFR突变之间的关系，以提高对NTRK融合变异NSCLC的认识。

The mutation probability of NTRK gene fusion in NSCLC