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

Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA.
Journal of Oncology 02/2010; 2010(1):364508. DOI: 10.1155/2010/364508
Source: PubMed


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.

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    • "Approximately half of ETT cases and 40% of PSN cases are located in the lower uterine segment and/or upper endocervix [3,4,9,11,12]. A recent study showed a lack of a Y-chromosome complement in >80% of cases of ETTs [13]. Analysis of the Y allele in PSNs may be helpful to further clarify the relationship between ETTs and PSNs. "
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    ABSTRACT: Placental site nodules (PSNs) and epithelioid trophoblastic tumors (ETTs) respectively represent non-neoplastic and neoplastic lesions of chorionic-type intermediate trophoblasts (ITs). Many patients with a PSN have a history of a cesarean section (CS) or therapeutic abortion. Recent evidence shows that a PSN may progress to an ETT. Herein, we describe a coexisting ETT and placental site trophoblastic tumor (PSTT) intimately associated with PSNs in the post-cesarean lower uterine segment of a 41-year-old woman. The patient presented with abnormal vaginal bleeding 1 year after a cesarean delivery for her most recent pregnancy. We speculated that the neoplasms had transformed from PSNs, the formation of which was related to faulty expulsion of the placental tissue or abnormal colonization of chorionic-type ITs during the CS. Neoplastic trophoblastic cells derived from PSNs displayed differentiation plasticity toward chorionic-type ITs and implantation site ITs that were respectively constituted of an ETT and PSTT. Virtual slides The virtual slides for this article can be found here:
    Full-text · Article · May 2013 · Diagnostic Pathology
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    ABSTRACT: Gestational choriocarcinoma is the most aggressive form of trophoblastic disease with tumor cells morphologically recapitulating the trophoblast of the developing placenta at its previllous stage. The tumor has a high propensity for hematogenous spread, and in fact, one of the most malignant tumors in human if untreated. Being a disease of long historical recognition (see Chap. 1), various names were used in the past including sarcoma uteri deciduocellulare as a malignant tumor derived from the decidua of pregnancy (Int J Gynecol Pathol 19(3):284–292, 2000), “deciduoma malignum” or “chorio-deciduo-cellular sarcoma,” “sarcoma of the chorial villi,” and “chorioepithelioma” (Int J Gynecol Pathol 19(3):284–292, 2000; Int J Gynecol Pathol 18(3):281–287, 1999). The term “choriocarcinoma” was eventually introduced by Ewing (J Hist Med Allied Sci 16:49–73, 1961; Surg Gynecol Obstet 10:26, 1910). The inception of chemotherapy management in late 1950s marked the beginning of the era of dramatic decrease in mortality of patients with gestational choriocarcinoma (Proc Soc Exp Biol Med 93:5, 1956). Once an invariably fatal malignancy, the tumor can be treated with over 90% survival or cure rate by methotrexate-based chemotherapy (Proc Soc Exp Biol Med 93:5, 1956; Am J Obstet Gynecol 82:631–640, 1961).
    No preview · Chapter · Jan 2012
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    ABSTRACT: Epithelioid trophoblastic tumor (ETT) is a relatively recently described entity, distinct from placental site trophoblastic tumor (PSTT) and choriocarcinoma (CC), with a resemblance to squamous cell carcinoma. With slightly less than 100 cases reported in the literature, ETT is a rare form of gestational trophoblastic disease (GTD) arising from the chorionic-type intermediate trophoblast. ETT was initially thought to be a variant of choriocarcinoma and is also referred to as “atypical choriocarcinoma.”
    No preview · Chapter · Jan 2012