TY - JOUR
T1 - ALK-rearranged renal cell carcinomas in children
AU - Cajaiba, Mariana M.
AU - Jennings, Lawrence J.
AU - Rohan, Stephen M.
AU - Perez-Atayde, Antonio R.
AU - Marino-Enriquez, Adrian
AU - Fletcher, Jonathan A.
AU - Geller, James I.
AU - Leuer, Katrin M.C.
AU - Bridge, Julia A.
AU - Perlman, Elizabeth J.
N1 - Funding Information:
We kindly acknowledge the following pathologists for providing the Renal medullary carcinoma cases used for FISH studies: Dr. Maria Tsokos (National Institute of Health); Dr. Brian Rubin (Cleveland Clinic); Dr. Vania Nosé (University of Miami); Dr. Dolores López-Terrada and Dr. Elias R. George (Baylor College of Medicine); Dr. Peter Humphrey (Washington University); Dr. Mahul Amin (Cedars-Sinai Medical Center); and Dr. Ima-Abasi Bassey (Calabar, Nigeria). Supported by: National Institutes of Health to the Children’s Oncology Group, Grant numbers: U10CA180886, U24CA114766, U10CA180899, and U10CA098543.
Publisher Copyright:
© 2016 Wiley Periodicals, Inc.
PY - 2016/5/1
Y1 - 2016/5/1
N2 - 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.
AB - 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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U2 - 10.1002/gcc.22346
DO - 10.1002/gcc.22346
M3 - Article
C2 - 26773439
AN - SCOPUS:84959432713
SN - 1045-2257
VL - 55
SP - 442
EP - 451
JO - Genes Chromosomes and Cancer
JF - Genes Chromosomes and Cancer
IS - 5
ER -
