ALK-Rearranged Renal Cell Carcinomas in Children
A partir de données portant sur 168 patients pédiatriques atteints d'un carcinome à cellules rénales, cette étude met en évidence la présence de réarrangements ALK chez 6 patients, puis suggère de recourir à ce biomarqueur pour définir un sous-type de la maladie et identifier des patients susceptibles de bénéficier de nouvelles options thérapeutiques
Knowledge of the clinicopathological and molecular spectrum of pediatric renal cell carcinomas (RCCs) remains limited, and approximately 16-24% of these neoplasms cannot be classified into specific subtypes. In our review of 168 pediatric RCC prospectively registered on Children's Oncology Group AREN03B2 protocol, we identified 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. 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, we propose that these neoplasms belong to a distinct subgroup of RCC frequently occurring in pediatric patients, which we have termed ALK-rearranged RCC. Importantly, additional therapeutic options may be available for these patients. This article is protected by copyright. All rights reserved.