Original ArticlesGenetic Analysis of Childhood Endodermal Sinus Tumors by Comparative Genomic HybridizationPerlman, Elizabeth J. M.D.; Hu, Jie M.D., Ph.D.; Ho, Deborah M.S.; Cushing, Barbara M.D.; Lauer, Stephen M.D.; Castleberry, Robert P. M.D.Author Information From the Division of Pediatric Pathology, Johns Hopkins Medical Institutions (E.P., J.H., D.H.), Baltimore, Maryland; Division of Pediatric Hematology/Oncology, Pediatric Oncology Group Operations Office, Chicago, Illinois; Division of Pediatric Hematology/Oncology, Children's Hospital of Michigan (B.C.), Detroit, Michigan; Division of Pediatric Hematology/Oncology, Emory University School of Medicine (S.L.), Atlanta, Georgia; and the Division of Pediatric Hematology/Oncology, The University of Alabama (R.C.), Birmingham, Alabama, U.S.A. Submitted for publication April 6, 1999; accepted August 12, 1999. This study has been supported by the American Cancer Society RPG97113 (E.P.), NIH UIOCA 28476 (E.P.), NIH UIOCA 20549 (S.L.), NIH UIOCA 29691 (B.C.), and NIH UIOCA 25408 (R.C.). Address correspondence and reprint requests to Dr. Elizabeth J. Perlman, Pediatric Oncology Group, 645 North Michigan Avenue, Suite 910, Chicago, IL 60611. Journal of Pediatric Hematology/Oncology: March-April 2000 - Volume 22 - Issue 2 - p 100-105 Buy Abstract Childhood endodermal sinus tumors (CEST) are a distinct category of germ cell tumors that involve the testis and extragonadal sites of young children. Recurrent deletions of 1p and 6q have been reported by classic cytogenetic analysis of a small number of cases. Comparative genomic hybridization, a technique that screens the entire genome for genetic abnormalities, is applied to additionally define the genetic changes present in CESTs. Sixteen frozen CESTs (10 testicular, 6 extragonadal) obtained from Pediatric Oncology Group-affiliated institutions or from the Cooperative Human Tissue Network were analyzed. The most common changes were gain of 20q (10 tumors), 1q (6 tumors), 11q and 22 (4 tumors each), and loss of 6q (8 tumors with common deleted region of 6q24-qter), 16q (4 tumors), and 1p (4 tumors). Localized regions of gain were identified at 8q24 (2 tumors both showing c-myc amplification by fluorescence in situ hybridization). Gain of 12p, characteristic of adolescent germ cell tumor, was present in one testicular tumor. Comparative genomic hybridization was useful in defining genetic differences between adult and childhood tumors, in determining the common regions deleted on chromosome 6, and in identifying other involved loci to be correlated with clinical parameters in future studies. © 2000 Lippincott Williams & Wilkins, Inc.