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ALK ‐ rearranged renal cell carcinomas in children
Author(s) -
Cajaiba Mariana M.,
Jennings Lawrence J.,
Rohan Stephen M.,
PerezAtayde Antonio R.,
MarinoEnriquez Adrian,
Fletcher Jonathan A.,
Geller James I.,
Leuer Katrin M. C.,
Bridge Julia A.,
Perlman Elizabeth J.
Publication year - 2016
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22346
Subject(s) - tfe3 , gene rearrangement , renal cell carcinoma , medicine , anaplastic lymphoma kinase , fusion gene , cancer research , oncology , pathology , biology , gene , genetics , gene expression , promoter , malignant pleural effusion , lung cancer
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. © 2016 Wiley Periodicals, Inc.