Respiratory Medicine Case Reports (Jan 2023)

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

Journal volume & issue
Vol. 44
p. 101871

Abstract

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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.

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