Current Oncology (May 2021)

Successful Alectinib Treatment for Carcinoma of Unknown Primary with <i>EML4-ALK</i> Fusion Gene: A Case Report

  • Keiji Sugiyama,
  • Ai Izumika,
  • Akari Iwakoshi,
  • Riko Nishibori,
  • Mariko Sato,
  • Kazuhiro Shiraishi,
  • Hiroyoshi Hattori,
  • Rieko Nishimura,
  • Chiyoe Kitagawa

DOI
https://doi.org/10.3390/curroncol28030180
Journal volume & issue
Vol. 28, no. 3
pp. 1938 – 1945

Abstract

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Gene alteration in anaplastic lymphoma kinase (ALK) is rare, and the efficacy of ALK inhibitors in the treatment of carcinoma of unknown primary (CUP) with ALK alteration remains unclear. The patient was a 56-year-old woman who presented with cervical lymph node swelling. Computed tomography revealed paraaortic, perigastric, and cervical lymph node swelling; ascites; a liver lesion; and a left adrenal mass. A cervical lymph node biopsy was performed, and pathological diagnosis of an undifferentiated malignant tumor was conducted. Finally, the patient was diagnosed with CUP and treated with chemotherapy. To evaluate actionable mutations, we performed a multigene analysis, using a next-generation sequencer (FoundationOne® CDx). It revealed that the tumor harbored an echinoderm microtubule-associated protein-like 4 (EML4) and ALK fusion gene. Additionally, immunohistochemistry confirmed ALK protein expression. Alectinib, a potent ALK inhibitor, was recommended for the patient at a molecular oncology conference at our institution. Accordingly, alectinib (600 mg/day) was administered, and the multiple lesions and symptoms rapidly diminished without apparent toxicity. The administration of alectinib continued for a period of 10 months without disease progression. Thus, ALK-tyrosine kinase inhibitors should be considered in patients with CUP harboring the EML4-ALK fusion gene.

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