ABSTRACT
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.
from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader http://ift.tt/1J8p95H
via IFTTT
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου