Science and Research

EML4-ALK Variant-Specific Genetic Interactions Shape Lung Tumorigenesis

Diverse fusions of echinoderm microtubule-associated protein-like 4 (EML4) and anaplastic lymphoma kinase (ALK) are oncogenic drivers in lung adenocarcinoma. EML4-ALK variants have distinct breakpoints within EML4, but their functional differences remain poorly understood. In this study, we use somatic genome editing to generate autochthonous mouse models of EML4-ALK-driven lung tumors and show that variant 3 (V3) is more oncogenic than variant 1 (V1). By using multiplexed genome editing and quantifying the effects of 29 putative tumor-suppressor genes on V1- and V3-driven lung cancer growth, we show that many tumor-suppressor genes have variant-specific effects on tumorigenesis. Pharmacogenomic analyses further suggest that tumor genotype can influence therapeutic responses. Analysis of human EML4-ALK-positive lung cancers also identified variant-specific differences in their genomic landscapes. These findings suggest that EML4-ALK variants behave more like distinct oncogenes than a uniform entity and highlight the dramatic impact of oncogenic fusion partner proteins and coincident tumor-suppressor gene alterations on the biology of oncogenic fusion-driven cancers. SIGNIFICANCE: EML4-ALK-driven lung cancer is treated as a uniform disease despite the presence of distinct fusion variants in patients. Our findings show that EML4-ALK variants are functionally distinct, which may have implications for the treatment of this cancer type and highlights the need to consider differences among variants of other oncogenic fusions.

  • Diaz-Jimenez, A.
  • Shuldiner, E. G.
  • Somogyi, K.
  • Shih, K. Y.
  • González-Velasco, Ó
  • Najajreh, M.
  • Kim, S.
  • Akkas, F.
  • Murray, C. W.
  • Andrejka, L.
  • Tsai, M. K.
  • Brors, B.
  • Hofmann, I.
  • Sivakumar, S.
  • Sisoudiya, S. D.
  • Sokol, E. S.
  • Cai, H.
  • Petrov, D. A.
  • Winslow, M. M.
  • Sotillo, R.

Keywords

  • Animals
  • *Lung Neoplasms/genetics/pathology
  • *Oncogene Proteins, Fusion/genetics
  • Humans
  • Mice
  • *Carcinogenesis/genetics
  • Adenocarcinoma of Lung/genetics
Publication details
DOI: 10.1158/2159-8290.Cd-24-1417
Journal: Cancer Discov
Pages: 46-65 
Number: 1
Work Type: Original
Location: TLRC
Disease Area: LC
Partner / Member: DKFZ, UKHD
Access-Number: 40986428


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