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[Cancer of unknown primary site with epidermal growth factor receptor mutation for which gefitinib proved effective]

Tadaaki Yamada1, Koushiro Ohtsubo, Daisuke Ishikawa

  • 1Kanazawa University, Japan.

Gan to Kagaku Ryoho. Cancer & Chemotherapy
|August 21, 2012
PubMed

Insights

A patient with cancer of unknown primary site responded well to gefitinib therapy after developing resistance to chemotherapy. This highlights the effectiveness of targeted therapy for specific mutations in difficult-to-treat cancers.

Area of Science:

  • Oncology
  • Medical Genetics

Background:

  • Cancer of unknown primary site (CUP) presents a diagnostic challenge and often carries a poor prognosis.
  • Systemic chemotherapy is a common initial treatment for CUP, but resistance can develop.

Observation:

  • A 53-year-old male patient presented with symptoms indicative of metastatic cancer, including gluteal pain and cervical lymphadenopathy.
  • Biopsy confirmed adenocarcinoma, but extensive metastatic disease (lymph nodes, bone, adrenal glands) precluded identification of the primary tumor site.

Findings:

  • The patient's tumor was found to harbor an epidermal growth factor receptor (EGFR) mutation.
  • Following resistance to systemic chemotherapy, gefitinib treatment led to significant tumor reduction and long-term clinical benefit.

Implications:

  • This case demonstrates the potential efficacy of targeted therapy, specifically EGFR inhibitors like gefitinib, in managing cancer of unknown primary site.
  • Identifying specific molecular alterations, such as EGFR mutations, can guide treatment decisions and improve outcomes in advanced cancers.

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