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Rare Complex Mutational Profile in an ALK Inhibitor-resistant Non-small Cell Lung Cancer

Elizabeth M Azzato1, Charuhas Deshpande2, Vania Aikawa2

  • 1Department of Pathology and Laboratory Medicine, Division of Hematology/Oncology, Hospital of the University of Pennsylvania, Philadelphia, PA, U.S.A. Elizabeth.Azzato@uphs.upenn.edu elizabeth.azzato@gmail.com.

Anticancer Research
|May 13, 2015
PubMed

Insights

This study reports a rare case of non-small cell lung cancer (NSCLC) with an anaplastic lymphoma receptor tyrosine kinase (ALK) rearrangement and concurrent KRAS, STK11, and ATM mutations. Comprehensive molecular testing is crucial for diagnosing complex NSCLC genetic profiles.

Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genetics

Background:

  • Somatic alterations like anaplastic lymphoma receptor tyrosine kinase (ALK) rearrangements and epidermal growth factor receptor (EGFR) mutations guide non-small cell lung cancer (NSCLC) treatment.
  • ALK rearrangements, EGFR mutations, and Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations are typically mutually exclusive in NSCLC.

Observation:

  • A patient with ALK rearrangement-positive oligo-metastatic NSCLC exhibited disease progression on two ALK-targeted therapies.
  • Next-generation sequencing revealed a KRAS Q22K mutation and frameshift mutations in serine/threonine kinase 11 (STK11) and ataxia telangiectasia mutated serine/threonine kinase (ATM).

Findings:

  • This represents a complex genetic profile not previously reported in ALK fusion-positive NSCLC.
  • The identified mutations (KRAS Q22K, STK11, ATM) occurred alongside an ALK rearrangement.

Implications:

  • This case underscores the importance of comprehensive molecular profiling in NSCLC.
  • Advanced diagnostic techniques are essential for identifying complex genetic landscapes that may influence treatment response and resistance.
Keywords:
ALK inhibitorALK translocationATMKRASNon-small cell lung cancerSTK11case reportcrizotinib resistancegenomicsnext-generation sequencing

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