Somatic mutation in synchronous primary adenocarcinomas of the left lung: a case report

Int J Clin Exp Pathol. 2015 Jul 1;8(7):8579-84. eCollection 2015.

Abstract

Multiple lung adenocarcinomas (AC) are uncommon. We herein report a case of multiple AC. A 62-year-old Chinese woman was admitted to our hospital because of her chest enhanced computed tomography (ECT) finding. Her ECT revealed a suspected lung cancer in the left lower lung and ill-defined weak ground-glass opacity in the left upper lobe. Upon operation, however, both were pathologically diagnosed as AC, an invasive one and an in-situ one, respectively. Only the invasive AC presented epidermal growth factor receptor (EGFR) mutation, while anaplastic lymphoma kinase (ALK) rearrangement was detected in none of them. To not miss rare invasion-related mutations, the whole exome sequencing of the in-situ and invasive AC was conducted subsequently matched the adjacent normal tissue of this patient. On sequencing the invasive tumor sample was found to have 27 exclusive somatic mutations as compared with in-situ and adjacent normal tissues. Our case exemplifies the need for deep sequencing and the discovery of new potential driver mutations.

Keywords: Multiple lung adenocarcinomas; somatic mutation; whole exome sequencing.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma / pathology
  • Adenocarcinoma / surgery
  • Adenocarcinoma of Lung
  • Biomarkers, Tumor / genetics*
  • Biopsy
  • DNA Mutational Analysis / methods
  • ErbB Receptors / genetics
  • Female
  • Genetic Predisposition to Disease
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / pathology
  • Lung Neoplasms / surgery
  • Middle Aged
  • Multiple Pulmonary Nodules / genetics*
  • Multiple Pulmonary Nodules / pathology
  • Multiple Pulmonary Nodules / surgery
  • Mutation*
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / pathology
  • Neoplasms, Multiple Primary / surgery
  • Phenotype
  • Pneumonectomy
  • Predictive Value of Tests
  • Tomography, X-Ray Computed

Substances

  • Biomarkers, Tumor
  • EGFR protein, human
  • ErbB Receptors