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Genes Chromosomes Cancer. 2016 May;55(5):442-51. doi: 10.1002/gcc.22346. Epub 2016 Feb 23.

ALK-rearranged renal cell carcinomas in children.

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Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, IL.
Department of Pathology, Colorado Pathology Consultants and Saint Joseph Hospital, Denver, CO.
Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA.
Department of Pathology, Brigham Women's Hospital and Harvard Medical School, Boston, MA.
Division of Pediatric Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio.
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE.


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.

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