Genetic changes associated with relapse in favorable histology Wilms tumor: A Children's Oncology Group AREN03B2 study.

Autor:	Gadd S; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Robert H. Lurie Cancer Center, Northwestern University, 225 East Chicago Avenue, Box 17, Chicago, IL 60611, USA., Huff V; Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA., Skol AD; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Robert H. Lurie Cancer Center, Northwestern University, 225 East Chicago Avenue, Box 17, Chicago, IL 60611, USA., Renfro LA; Division of Biostatistics, University of Southern California, Los Angeles, CA 90007, USA., Fernandez CV; Department of Pediatrics, IWK Health Centre and Dalhousie University, Halifax, NS B3K 6R8, Canada., Mullen EA; Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, MA 02215, USA., Jones CD; Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Hoadley KA; Department of Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Yap KL; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Robert H. Lurie Cancer Center, Northwestern University, 225 East Chicago Avenue, Box 17, Chicago, IL 60611, USA., Ramirez NC; Institute for Genomic Medicine and Biopathology Center, Nationwide Children's Hospital, Departments of Pathology and Pediatrics, Ohio State University, Columbus, OH 43205, USA., Aris S; Biospecimen Research Group, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA., Phung QH; Biospecimen Research Group, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA., Perlman EJ; Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Robert H. Lurie Cancer Center, Northwestern University, 225 East Chicago Avenue, Box 17, Chicago, IL 60611, USA. Electronic address: eperlman@luriechildrens.org.
Jazyk:	angličtina
Zdroj:	Cell reports. Medicine [Cell Rep Med] 2022 Jun 21; Vol. 3 (6), pp. 100644. Date of Electronic Publication: 2022 May 25.
DOI:	10.1016/j.xcrm.2022.100644
Abstrakt:	Over the last decade, sequencing of primary tumors has clarified the genetic underpinnings of Wilms tumor but has not affected therapy, outcome, or toxicity. We now sharpen our focus on relapse samples from the umbrella AREN03B2 study. We show that over 40% of relapse samples contain mutations in SIX1 or genes of the MYCN network, drivers of progenitor proliferation. Not previously seen in large studies of primary Wilms tumors, DIS3 and TERT are now identified as recurrently mutated. The analysis of primary-relapse tumor pairs suggests that 11p15 loss of heterozygosity (and other copy number changes) and mutations in WT1 and MLLT1 typically occur early, but mutations in SIX1, MYCN, and WTX are late developments in some individuals. Most strikingly, 75% of relapse samples had gain of 1q, providing strong conceptual support for studying circulating tumor DNA in clinical trials to better detect 1q gain earlier and monitor response. Competing Interests: Declaration of interests The authors declare no competing interests. (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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