There is still a role for cytology in the 'liquid biopsy' era. A lesson from a TKI-treated patient showing adenocarcinoma to squamous cell carcinoma transition during disease progression

Eduardo Clery; Pasquale Pisapia; Salvatore Feliciano; Elena Vigliar; Antonio Marano; Caterina De Luca; Umberto Malapelle; Giancarlo Troncone; Claudio Bellevicine

doi:10.1136/jclinpath-2017-204370

There is still a role for cytology in the 'liquid biopsy' era. A lesson from a TKI-treated patient showing adenocarcinoma to squamous cell carcinoma transition during disease progression

J Clin Pathol. 2017 Sep;70(9):798-802. doi: 10.1136/jclinpath-2017-204370. Epub 2017 Mar 31.

Authors

Eduardo Clery¹, Pasquale Pisapia¹, Salvatore Feliciano², Elena Vigliar¹, Antonio Marano¹, Caterina De Luca¹, Umberto Malapelle¹, Giancarlo Troncone¹, Claudio Bellevicine¹

Affiliations

¹ Department of Public Health, University of Naples Federico II, Naples, Italy.
² Department of Oncology, A.O.R.N. A. Cardarelli, Naples, Italy.

PMID: 28363898
DOI: 10.1136/jclinpath-2017-204370

Abstract

Non-small cell lung carcinoma harbouring epidermal growth factor receptor (EGFR) mutation, usually progress after an initial response to tyrosine-kinase inhibitors (TKI). Liquid biopsy enables with a simple blood draw the accurate detection of EGFR p.T790M mutation, the most common resistance mechanism, avoiding the more invasive tissue re-biopsy. However, in a subset of cases, resistance mechanisms are more complex featuring both genetic and morphological changes. Here we report the case of a 67 years-old woman, affected by an EGFR mutated lung adenocarcinoma and treated by TKI. At disease progression, the patient developed a morphological transition to squamous cell carcinoma in association to the arising of a PIK3CA p.E542K mutant subclone. This case illustrates that, even in the "liquid biopsy" era, cytology can have still a role by providing an overall assessment of both morphology and genetic TKI resistance mechanisms.

Keywords: CYTOLOGY; EGFR; LUNG CANCER; MOLECULAR PATHOLOGY; MORPHOLOGY.

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Publication types

Case Reports

MeSH terms

Adenocarcinoma / drug therapy*
Adenocarcinoma / enzymology
Adenocarcinoma / genetics
Adenocarcinoma / pathology
Adenocarcinoma of Lung
Aged
Antineoplastic Agents / adverse effects
Antineoplastic Agents / therapeutic use*
Biomarkers, Tumor / antagonists & inhibitors
Biomarkers, Tumor / blood
Biomarkers, Tumor / genetics
Biopsy
Carcinoma, Non-Small-Cell Lung / drug therapy*
Carcinoma, Non-Small-Cell Lung / enzymology
Carcinoma, Non-Small-Cell Lung / genetics
Carcinoma, Non-Small-Cell Lung / pathology
Carcinoma, Squamous Cell / drug therapy*
Carcinoma, Squamous Cell / enzymology
Carcinoma, Squamous Cell / genetics
Carcinoma, Squamous Cell / pathology
Class I Phosphatidylinositol 3-Kinases / genetics
DNA Mutational Analysis
Disease Progression
Drug Resistance, Neoplasm* / genetics
ErbB Receptors / antagonists & inhibitors
ErbB Receptors / blood
ErbB Receptors / genetics
Female
Humans
Lung Neoplasms / drug therapy*
Lung Neoplasms / enzymology
Lung Neoplasms / genetics
Lung Neoplasms / pathology
Molecular Targeted Therapy
Predictive Value of Tests
Protein Kinase Inhibitors / adverse effects
Protein Kinase Inhibitors / therapeutic use*
Time Factors
Tomography, X-Ray Computed
Treatment Outcome
Ultrasonography

Substances

Antineoplastic Agents
Biomarkers, Tumor
Protein Kinase Inhibitors
Class I Phosphatidylinositol 3-Kinases
PIK3CA protein, human
EGFR protein, human
ErbB Receptors