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Journal of Oncology
Volume 2010, Article ID 364508, 6 pages
Research Article

Lack of a Y-Chromosomal Complement in the Majority of Gestational Trophoblastic Neoplasms

1Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
2Pathobiology Graduate Program, Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA
3Department of Pathology, National Taiwan University Hospital, Taipei 100, Taiwan
4Department of Gynecology, Obstetrics and Oncology, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA

Received 16 December 2009; Accepted 4 January 2010

Academic Editor: Tian-Li Wang

Copyright © 2010 Kai Lee Yap et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Gestational trophoblastic neoplasms (GTNs) are a rare group of neoplastic diseases composed of choriocarcinomas, placental site trophoblastic tumors (PSTTs) and epithelioid trophoblastic tumors (ETTs). Since these tumors are derivatives of fetal trophoblastic tissue, approximately 50% of GTN cases are expected to originate from a male conceptus and carry a Y-chromosomal complement according to a balanced sex ratio. To investigate this hypothesis, we carried out a comprehensive analysis by genotyping a relatively large sample size of 51 GTN cases using three independent sex chromosome genetic markers; Amelogenin, Protein Kinase and Zinc Finger have X and Y homologues that are distinguishable by their PCR product size. We found that all cases contained the X-chromosomal complement while only five (10%) of 51 tumors harbored the Y-chromosomal complement. Specifically, Y-chromosomal signals were detected in one (5%) of 19 choriocarcinomas, one (7%) of 15 PSTTs and three (18%) of 17 ETTs. The histopathological features of those with a Y-chromosome were similar to those without. Our results demonstrate the presence of a Y-chromosomal complement in GTNs, albeit a low 10% of cases. This shortfall of Y-chromosomal complements in GTNs may reinforce the notion that the majority of GTNs are derived from previous molar gestations.