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A case of concomitant EGFR/ALK alteration against a mutated EGFR background in early-stage lung adenocarcinoma

Journal of Pathology and Translational Medicine 2021년 55권 2호 p.139 ~ 144
이기창, 고지원, 정두현, 전윤경,
소속 상세정보
이기창 ( Lee Ki-Chang ) - Seoul National University College of Medicine Seoul National University
고지원 ( Koh Ji-Won ) - Seoul National University College of Medicine Seoul National University Hospital Department of Pathology
정두현 ( Chung Doo-Hyun ) - Seoul National University College of Medicine Seoul National University Hospital Department of Pathology
전윤경 ( Jeon Yoon-Kyung ) - Seoul National University College of Medicine Seoul National University Hospital Department of Pathology

Abstract


Rare cases of lung adenocarcinoma (LUAD) with concomitant epidermal growth factor receptor (EGFR) mutation and anaplastic lymphoma kinase (ALK) translocation have been reported. However, their clonal and evolutional relationship remains unclear. We report a case of early-stage EGFR-mutated LUAD with a focal concomitant EGFR/ALK alteration. A 63-year-old male underwent lobectomy to remove a 1.9-cm-sized lung nodule, which was diagnosed with EGFR-mutated LUAD. ALK immunohistochemistry (IHC) showed focal positivity within the part of the tumor characterized by lepidic pattern, also confirmed by fluorescence in-situ hybridization (FISH). Targeted next-generation sequencing was performed separately on the ALK IHC/FISH-positive and -negative areas. EGFR L833V/L858R mutations were detected in both areas, whereas EML4 (echinoderm microtubule-associated protein-like 4)-ALK translocations was confirmed only in the ALK IHC/FISH-positive area, suggesting the divergence of an EGFR/ALK co-altered subclone from the original EGFR-mutant clone. Our study suggests that concurrent alterations of EGFR and ALK can arise via divergent tumor evolution, even in the relatively early phases of tumorigenesis.

키워드

Lung adenocarcinoma; Epidermal growth factor receptor; Anaplastic lymphoma kinase; Concomitant alteration; Targeted gene sequencing

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