ALK-rearranged renal cell carcinomas in children

Mariana M. Cajaiba, Lawrence J. Jennings, Stephen M. Rohan, Antonio R. Perez-Atayde, Adrian Marino-Enriquez, Jonathan A. Fletcher, James I. Geller, Katrin M.C. Leuer, Julia A. Bridge, Elizabeth J. Perlman

Research output: Contribution to journalArticle

29 Scopus citations


Knowledge of the clinicopathological and molecular spectrum of pediatric renal cell carcinomas (RCC) remains limited, and approximately 16%-24% of these neoplasms cannot be classified into specific subtypes. In this review of 168 pediatric RCC prospectively registered on Children's Oncology Group AREN03B2 protocol, six RCC (3.5%) that demonstrated a unique epithelioid morphology and a peculiar immunophenotypic profile that includes expression of ALK, TFE3, and retention of INI1 was identified. Further investigation revealed ALK rearrangements in all cases, manifested molecularly by fusion transcripts of either VCL-ALK (3 patients all with sickle cell trait which had been previously reported) or TPM3-ALK (3 patients, none with sickle cell trait). Based on the shared unique morphologic, immunophenotypic, and genetic features, it was proposed that these neoplasms belonged to a distinct subgroup of RCC frequently occurring in pediatric patients, which they have termed as ALK-rearranged RCC. Importantly, additional therapeutic options may be available for these patients.

Original languageEnglish (US)
Pages (from-to)442-451
Number of pages10
JournalGenes Chromosomes and Cancer
Issue number5
StatePublished - May 1 2016


ASJC Scopus subject areas

  • Genetics
  • Cancer Research

Cite this

Cajaiba, M. M., Jennings, L. J., Rohan, S. M., Perez-Atayde, A. R., Marino-Enriquez, A., Fletcher, J. A., Geller, J. I., Leuer, K. M. C., Bridge, J. A., & Perlman, E. J. (2016). ALK-rearranged renal cell carcinomas in children. Genes Chromosomes and Cancer, 55(5), 442-451.