Heterogeneous distribution of EGFR mutation in NSCLC: Case report

Sara Boukansa; Zineb Benbrahim; Sanaa Gamrani; Ismail Mouhrach; Fatima El Agy; Sanae El Bardai; Laila Bouguenouch; Mounia Serraj; Bouchra Amara; Yassine Ouadnouni; Mohamed Smahi; Badreeddine Alami; Nawfel Mellas; Hinde El Fatemi

doi:10.1016/j.rmcr.2023.101871

Heterogeneous distribution of EGFR mutation in NSCLC: Case report

Respir Med Case Rep. 2023 May 13:44:101871. doi: 10.1016/j.rmcr.2023.101871. eCollection 2023.

Authors

Sara Boukansa^{1

2}, Zineb Benbrahim³, Sanaa Gamrani^{1

2}, Ismail Mouhrach⁴, Fatima El Agy^{1

2}, Sanae El Bardai², Laila Bouguenouch⁴, Mounia Serraj⁵, Bouchra Amara⁵, Yassine Ouadnouni⁶, Mohamed Smahi⁶, Badreeddine Alami⁷, Nawfel Mellas³, Hinde El Fatemi^{1

2}

Affiliations

¹ Faculty of Medicine and Pharmacy, Laboratory of Biomedical and Translational Research, Sidi Mohamed Ben Abdellah University, Fez, Morocco.
² Laboratory of Anatomic Pathology and Molecular Pathology, University Hospital Hassan II, Sidi Mohamed Ben Abdellah University, Fez, Morocco.
³ Department of Oncology, University Hospital Hassan II, Sidi Mohamed Ben Abdellah University, Fez, Morocco.
⁴ Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Sidi Mohamed Ben Abdellah University, Fez, Morocco.
⁵ Department of Pneumology, University Hospital Hassan II, Sidi Mohamed Ben Abdellah University, Fez, Morocco.
⁶ Department of Thoracic Surgery, University Hospital Hassan II, Sidi Mohamed Ben Abdellah University, Fez, Morocco.
⁷ Department of Radiology, University Hospital Hassan II, Sidi Mohamed Ben Abdellah University, Fez, Morocco.

Abstract

Background: We herein report the case of a patient with advanced lung adenocarcinoma who presented a heterogeneous distribution of EGFR mutation.

Case report: A 74-year-old Moroccan male former smoker was diagnosed with advanced lung adenocarcinoma, harboring S768I exon 20 substitution mutation confirmed by Real Time PCR and Pyrosequencing, but not detected by direct sequencing despite 70% of tumor cells. The present report describes a case of minor histologic intratumoral heterogeneity with heterogeneous distribution of EGFR mutation.

Conclusion: Both sensitivity and specificity of molecular methods can provide evidence of intratumoral heterogeneity, which may explain the mismatch between the validation of oncology biomarkers and predicting therapeutic response to targeted therapy.

Keywords: EGFR mutation; Pyrosequencing; Real Time PCR; S768I; intratumoral heterogeneity.

Publication types

Case Reports