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

doi:10.1002/gcc.22346

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

^*Corresponding author for this work

Pathology

Research output: Contribution to journal › Article › peer-review

50 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	442-451
Number of pages	10
Journal	Genes Chromosomes and Cancer
Volume	55
Issue number	5
DOIs	https://doi.org/10.1002/gcc.22346
State	Published - May 1 2016

Funding

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.

ASJC Scopus subject areas

Genetics
Cancer Research

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10.1002/gcc.22346

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title = "ALK-rearranged renal cell carcinomas in children",

abstract = "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.",

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

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doi = "10.1002/gcc.22346",

language = "English (US)",

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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.

PY - 2016/5/1

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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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ALK-rearranged renal cell carcinomas in children

Abstract

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ASJC Scopus subject areas

UN SDGs

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