Epidermal growth factor receptor-mutant lung cancer in Down syndrome: a case presentation and review of the literature.

Xin Li,Qiumei Dong,Shijiang Xing

doi:10.18632/oncotarget.17406

Abstract

BackgroundSolid tumors have a markedly decreased incidence in individuals with Down syndrome (DS), including lung cancers.MethodsThe clinical presentation of epidermal growth factor receptor (EGFR)-mutant non-small-cell lung cancer (NSCLC) in DS was reported and literature on the subject reviewed.ResultsIn individuals with DS, the risk of lung cancer appears markedly lower. EGFR mutation and EGFR tyrosine kinase inhibitors (EGFR-TKIs) resistance also exist in DS with lung cancer.ConclusionsClinicians should consider EGFR mutation and EGFR-TKIs resistance in lung cancer patients with DS.

Highlights

Down syndrome (DS) is the most common chromosomal abnormality, which is caused by chromosome 21 trisomy
epidermal growth factor receptor (EGFR) mutation and EGFR tyrosine kinase inhibitors (EGFR-TKIs) resistance exist in DS with lung cancer
Treatment non-small-cell lung cancer (NSCLC) harbouring mutant epidermal growth factor receptor (EGFR) with specific tyrosine kinase inhibitor (TKI) has led to remarkable tumor shrinkage and improvement in progression-free survival (PFS) and quality of life compared with standard chemotherapy [7,8,9,10]

Summary

Introduction

Down syndrome (DS) is the most common chromosomal abnormality, which is caused by chromosome 21 trisomy. Methods: The clinical presentation of epidermal growth factor receptor (EGFR)mutant non-small-cell lung cancer (NSCLC) in DS was reported and literature on the subject reviewed. EGFR mutation and EGFR tyrosine kinase inhibitors (EGFR-TKIs) resistance exist in DS with lung cancer.

Results

Conclusion