ALK-rearranged renal cell carcinomas in children
| Autor: | Elizabeth J. Perlman, Lawrence J. Jennings, Jonathan A. Fletcher, Katrin M. Leuer, Julia A. Bridge, James I. Geller, Mariana M. Cajaiba, Adrián Mariño-Enríquez, Antonio R. Perez-Atayde, Stephen Rohan |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Cancer Research Pathology medicine.medical_specialty Sickle cell trait Extramural Cell TFE3 Biology urologic and male genital diseases medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure hemic and lymphatic diseases 030220 oncology & carcinogenesis Immunology Genetics medicine Carcinoma Anaplastic lymphoma kinase |
| Zdroj: | Genes, Chromosomes and Cancer. 55:442-451 |
| ISSN: | 1045-2257 |
| DOI: | 10.1002/gcc.22346 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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