# Lorlatinib in the treatment of a rare pulmonary mucoepidermoid carcinoma with EML4-ALK fusion: a case report and literature review

**Authors:** Zijun Xu, Xiaofeng Cong, Ziling Liu

PMC · DOI: 10.3389/fonc.2024.1415254 · 2024-08-29

## TL;DR

A 59-year-old woman with a rare lung tumor responded well to lorlatinib, a drug targeting a specific genetic mutation.

## Contribution

This is the first reported case of lorlatinib used effectively for high-grade pulmonary mucoepidermoid carcinoma with EML4-ALK fusion V2 mutation.

## Key findings

- Lorlatinib was effective as first-line treatment for advanced high-grade PMEC with EML4-ALK fusion V2 mutation.
- Genetic testing identified EML4-ALK fusion variant E20:A20 (V2) in the patient.
- The case highlights the potential of targeted therapy in rare tumors with specific genetic alterations.

## Abstract

Pulmonary mucoepidermoid carcinoma (PMEC) is a rare tumor with limited clinical data available due to its low incidence. So far, there are no universal treatment guidelines for this malignant tumor. We present here the case of a 59-year-old female never smoker who was initially referred to our hospital with cough and hemoptysis and was eventually diagnosed with PMEC. Based on further genetic testing, echinoderm microtubule-associated protein-like4-anaplastic lymphoma kinase (EML4-ALK) fusion variants E20:A20 (V2) was found. The patient was treated with lorlatinib as the first-line treatment. This case is the first to describe the effectiveness of lorlatinib in treating an advanced high-grade PMEC with EML4-ALK fusion V2 mutation patient.

## Linked entities

- **Genes:** EML4 (EMAP like 4) [NCBI Gene 27436], ALK (ALK receptor tyrosine kinase) [NCBI Gene 238]
- **Chemicals:** lorlatinib (PubChem CID 71731823)
- **Diseases:** pulmonary mucoepidermoid carcinoma (MONDO:0005616)

## Full-text entities

- **Genes:** EML4 (EMAP like 4) [NCBI Gene 27436] {aka C2orf2, ELP120, EMAP-4, EMAPL4, ROPP120}, ALK (ALK receptor tyrosine kinase) [NCBI Gene 238] {aka ALK1, CD246, NBLST3}
- **Diseases:** cough (MESH:D003371), PMEC (MESH:D018277), malignant (MESH:D009369), hemoptysis (MESH:D006469)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11390346/full.md

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Source: https://tomesphere.com/paper/PMC11390346