Triploid pregnancies: genetic and clinical features of 158 cases

Hydatidiform moles (HMs) are abnormal human pregnancies with vesicular chorionic villi, imposing two clinical challenges; miscarriage and a risk of gestational trophoblastic neoplasia (GTN). The parental type of most HMs are either diandric diploid (PP) or diandric triploid (PPM). We consecutively collected 154 triploid or near-triploid samples from conceptuses with vesicular chorionic villi. We used analysis of DNA markers and/or methylation sensitive-MLPA and collected data from registries and patients records. We performed whole genome SNP analysis of one case of twinning (PP+PM).In all 154 triploids or near-triploids we found two different paternal contributions to the genome (P1P2M). The ratios between the sex chromosomal constitutions XXX, XXY, and XYY were 5.7: 6.9: 1.0. No cases of GTN were observed. Our results corroborate that all triploid human conceptuses with vesicular chorionic villi have the parental type P1P2M. The sex chromosomal ratios suggest approximately equal frequencies of meiosis I and meiosis II errors with selection against the XYY conceptuses or a combination of dispermy, non-disjunction in meiosis I and meiosis II and selection against XYY conceptuses. Although single cases of GTN after a triploid HM have been reported, the results of this study combined with data from previous prospective studies estimate the risk of GTN after a triploid mole to 0% (95% CI: 0–1,4%).

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“…Not all diandric triploids present as HMs [ 10 ]. It has been suggested that only one-half of diandric triploids are HMs [ 28 ].…”

Section: Discussionmentioning

confidence: 99%

“…In 126 cases we had only a maternal blood sample and in 2 cases we had neither paternal nor maternal blood samples. Karyotypes and parental origin of the genome on 123 of these triploid cases have been published previously [ 10 ].…”

Section: Methodsmentioning

confidence: 99%

Triploidy—Observations in 154 Diandric Cases

et al. 2015

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“…However, it must be stressed that the triploidy per se does not imply a simple yes or no distinction of the tumor behaviour as it may occur in benign tumors as well as adenocarcinoma in situ. In addition, it can be associated with hydatidiform mole, a pseudotumor formation of the uterus simulating pregnancy [36]. Thus, the interpretation of triploidy is strongly tissue and context dependent.…”

Section: Discussionmentioning

confidence: 99%

DNA ploidy and morphology of colon tumors in the adenoma–carcinoma sequence

Staarmann

Kotb

Petersen

2015

Folia Histochem Cytobiol.

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Introduction. Chromosomal changes are widespread in the vast majority of colon carcinomas and aneuploidy is an established prognostic factor. However, this knowledge so far has no influence on tumor classification. We reported a morphology-based classification scheme, the core classification, that correlates with DNA ploidy. In particular, tripolar mitoses were identified as surrogate markers of a near triploid DNA content. In addition, a survey on chromosome numbers and survival rates in carcinomas suggested that triploidy as a particular state of aneuploidy may be correlated with a more aggressive tumor phenotype. We therefore aimed to analyse DNA ploidy in the colorectal adenoma-carcinoma sequence. Material and methods. The study collection consisted of 15 adenomas and 15 adenocarcinomas of 10 patients. Some of them showed a morphological transition between benign and malignant tumor components which were selectively analysed by DNA measurements. In addition, we assessed the morphological parameters of the core classification. Results. The main findings of the study may be summarized as follows. 1) DNA ploidy changes are already consistently detectable in colon adenomas. They are usually associated with hyperdiploidy. 2) Adenoma tissue adjacent to carcinomas, however, may carry a hypodiploid DNA content while the nearby carcinoma samples were hyperdiploid. Hypodiploidy may thus represent a transition state to near triploid carcinomas.3) The size of tumor nuclei and mitoses usually reflects the ploidy level of colon tumors. Specifically, triploid mitoses may point to a near triploid DNA content. 4) Triploidy per se cannot be equated with tumor aggressiveness as it may already be found in adenocarcinoma in situ. 5) Tripolar and tetrapolar mitoses in invasive colon cancer, however, are potential indicators of an advanced chromosomal instability and seemed to be associated with advanced tumor stages. Conclusions. We present data that hypodiploidy may represent a transition state from adenoma to carcinoma in a subset of colorectal tumors and that near-triploidy may be associated with a more aggressive course of the disease. However, the interpretation of tripolar mitoses and triploidy is largely dependent on the cell type (benign vs. malignant) and tissue context (invasive vs. non-invasive cancer). Furthermore, its interpretation may be distinct for different tumor stages and histotypes. Aneuploidy and multipolar mitoses are frequent findings in cancer cells. Their relevance for tumor biology deserves further studies.

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“…Triploidy results from an extra haploid chromosome set of paternal (diandric) or maternal (digynic) origin, and it is estimated to occur in 1–2% of all conceptions . The frequency of the two parental types varies widely in the literature, from 20 to 85% for diandric cases . Most triploidies are lost at early developmental stages, constituting up to 10% of chromosomal abnormalities detected in spontaneous miscarriages .…”

Section: Introductionmentioning

confidence: 99%

Triploidy - variability of sonographic phenotypes

et al. 2017

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Nearly 40% of triploid fetuses do not have any apparent structural abnormalities, and only careful assessment of fetal growth and placenta may lead to the suspicion of the diagnosis. As diandric triploidy carry a high risk for maternal complications, identification of these cases is vital for prenatal counseling. In nearly 20% of triploid pregnancies, parental origin cannot be established based on sonographic assessment. © 2017 John Wiley & Sons, Ltd.

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Triploid pregnancies: genetic and clinical features of 158 cases

Cited by 23 publications

References 25 publications

Triploidy—Observations in 154 Diandric Cases

Triploidy—Observations in 154 Diandric Cases

DNA ploidy and morphology of colon tumors in the adenoma–carcinoma sequence

Triploidy - variability of sonographic phenotypes

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