Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole

Jacobs, Patricia A.; Szulman, A. E.; Funkhouser, J.; Matsuura, Janice; Wilson, Carola C.

doi:10.1111/j.1469-1809.1982.tb00714.x

Cited by 361 publications

(175 citation statements)

References 21 publications

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“…In partial moles, the karyotype is triploid in most cases (eg, 69, XXY), resulting from fertilization of an egg with one or two sperm. In fact, triploid gestations in which there is no duplication of the paternal chromosomes do not have trophoblastic hyperplasia and do not meet the histologic criteria of molar gestation (Jacobs et al, 1982). Therefore, duplication of the paternal X chromosome with or without the maternal X chromosome seems to result in abnormal genetic overdosing from the paternal X chromosome and seems to play a role in trophoblastic proliferation.…”

Section: Discussionmentioning

confidence: 99%

Pathogenesis of Placental Site Trophoblastic Tumor May Require the Presence of a Paternally Derived X Chromosome

Hui

Parkash

Perkins

et al. 2000

Laboratory Investigation

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SUMMARY:Placental site trophoblastic tumor (PSTT) is a neoplastic proliferation of intermediate trophoblasts that invades the myometrium at the placental site after a pregnancy. Less than 100 cases have been reported. Information of the sex assignment of the antecedent gestation is available in 21 cases: 18 of these were female. To explore this interesting phenomenon, we have determined the sex chromosome composition of the tumor tissue preserved in paraffin blocks for five new cases of this condition. The last documented gestational event included a normal vaginal delivery of female infants in three cases, normal vaginal delivery of an infant of unknown sex in one case and a molar gestation in one case. Using the X-linked human androgen receptor (AR) gene as a polymorphic marker, we showed that in all five cases the tumor had a likely XX chromosomal composition; and in four cases it was possible to determine that one of the X chromosomes was of paternal origin. In one case, the paternal X chromosome showed no polymorphism to either maternal X chromosomes. In addition, sensitive semi-nested PCR failed to show a human Y chromosome element in any of the five cases of PSTT. Overall, of 21 cases from the literature and 5 cases of ours, 89% (23 of 26) showed an XX genomic composition in PSTT, either by history or genetic analysis. These results suggest that most PSTT were derived from the antecedent female conceptus and were likely to have possessed a functional paternal X chromosome. Methylation status analysis at the AR locus was performed in the three PSTT in which the paternal X chromosome was identifiable. In two cases, the paternal AR locus was hypomethylated while the corresponding maternal locus was hypermethylated. The methylation status of other loci was not investigated. Collectively, sex chromosome analysis of five cases of PSTT with literature support suggests a unique genetic basis for the development of PSTT that involves the paternal X chromosome. Although largely speculative, an active paternal X chromosome may be of importance in the pathogenesis of PSTT. (Lab Invest 2000, 80:965-972).D uring conception, tissue having paternallyderived genetic material is implanted in the female uterus. Rarely, this event leads to the development of a disease in the mother in the form of gestational trophoblastic disease (GTD). GTD includes some entities characterized by distinct unique genetic modes of pathogenesis which have been recognized for long time (Kajii and Ohama, 1977;Szulman, 1984): in complete hydatidiform moles, more than 90% of the proliferative trophoblasts have a 46, XX diploid pattern, all derived from the sperm (androgenesis). In partial moles, the karyotype is triploid in most cases (eg, 69, XXY), resulting from fertilization of an egg with one or two sperm. In fact, triploid gestations in which there is no duplication of the paternal chromosomes do not have trophoblastic hyperplasia and do not meet the histologic criteria of molar gestation (Jacobs et al, 1982). Therefore, duplication of the pat...

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Section: Discussionmentioning

confidence: 99%

Pathogenesis of Placental Site Trophoblastic Tumor May Require the Presence of a Paternally Derived X Chromosome

Hui

Parkash

Perkins

et al. 2000

Laboratory Investigation

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“…In contrast, partial hydatidiform moles are characterized by diandric triploidy (two paternal and one maternal chromosome complements), with most arising by dispermy. [36][37][38] Non-molar specimens are usually characterized by biparental diploidy (one paternal and one maternal chromosome complements). Some non-molar specimens are digynic triploid conceptions (two maternal and one paternal chromosome complements) but do not exhibit molar features, 39 with the exception of rare examples having the morphology and immunophenotype (p57-negative) of complete hydatidiform moles occurring in patients with familial recurrent hydatidiform mole associated with mutations in NLRP7 (NALP7) or KHDC3L (C6orf221).…”

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confidence: 99%

Characteristics of hydatidiform moles: analysis of a prospective series with p57 immunohistochemistry and molecular genotyping

et al. 2014

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Immunohistochemical analysis of cyclin-dependent kinase inhibitor 1C (CDKN1C, p57, Kip2) expression and molecular genotyping accurately classify hydatidiform moles into complete and partial types and distinguish these from non-molar specimens. Characteristics of a prospective series of all potentially molar specimens encountered in a large gynecologic pathology practice are summarized. Initially, all specimens were subjected to both analyses; this was later modified to triage cases for genotyping based on p57 results: p57-negative cases diagnosed as complete hydatidiform moles without genotyping; all p57-positive cases genotyped. Of the 678 cases, 645 were definitively classified as complete hydatidiform mole (201), partial hydatidiform mole (158), non-molar (272), and androgenetic/biparental mosaic (14); 33 were unsatisfactory, complex, or problematic. Of the 201 complete hydatidiform moles, 104 were p57-negative androgenetic and an additional 95 were p57-negative (no genotyping), 1 was p57-positive (retained maternal chromosome 11) androgenetic, and 1 was p57-non-reactive androgenetic; 90 (85%) of the 106 genotyped complete hydatidiform moles were monospermic and 16 were dispermic. Of the 158 partial hydatidiform moles, 155 were diandric triploid, with 154 p57-positive, 1 p57-negative (loss of maternal chromosome 11), and 1 p57-non-reactive; 3 were triandric tetraploid, with 2 p57-positive and 1 p57-negative (loss of maternal chromosome 11). Of 155 diandric triploid partial hydatidiform moles, 153 (99%) were dispermic and 2 were monospermic. Of the 272 non-molar specimens, 259 were p57-positive biparental diploid, 5 were p57-positive digynic triploid, 2 were p57-negative biparental diploid (no morphological features of biparental hydatidiform mole), and 6 were p57-non-reactive biparental diploid. Of the 14 androgenetic/biparental mosaics with discordant p57 expression, 6 were uniformly mosaic and 8 had a p57-negative androgenetic molar component. p57 expression is highly correlated with genotyping, serves as a reliable marker for diagnosis of complete hydatidiform moles, and identifies androgenetic cell lines in mosaic conceptions. Cases with aberrant and discordant p57 expression can be correctly classified by genotyping.

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“…Complete HM is diploid in nature, with the genetic material being totally derived from the paternal genome (Kajii and Ohama 1977). Partial HM is mostly triplod in nature, with a combination of diandric (two paternal) haploid sets and one maternal set (Jacobs et al 1982). The abnormal triploid fetus coexisting with partial HM tends to die in the first trimester, while the fetus coexisting with complete HM does have a chance to survive, as has been previously described (Matsui et al 2000).…”

Section: Introductionmentioning

confidence: 75%

Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection

et al. 2006

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A twin pregnancy with complete hydatidiform mole (HM) and preterm birth of a normal female infant after intracytoplasmic sperm injection (ICSI) conception was experienced. ICSI due to severe oligozoospermia was performed on three ova, and three embryos with confirmed two proneclei (2PN) were subsequently transferred to the uterus. At 7 weeks of gestation, molar pregnancy as well as a viable fetus was recognized. At 33 weeks, the pregnancy was terminated due to preterm labor. Dichorionic pregnancy consisting of a normal fetus and placenta in one chorionic membrane and complete HM in the other was recognized. Cytomolecular analysis indicated that the complete HM genome was derived from duplication of a single sperm, and a normal neonate was from biparental genomes. It should be noted that ICSI can avoid incomplete HM (mostly triploid) due to multi-sperm fertilization but might not be able to avoid complete HM (paternal diploid) although such a risk is very low. This is the second report of this condition and is accompanied by the first well-described molecular analysis.

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Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole

Cited by 361 publications

References 21 publications

Pathogenesis of Placental Site Trophoblastic Tumor May Require the Presence of a Paternally Derived X Chromosome

Pathogenesis of Placental Site Trophoblastic Tumor May Require the Presence of a Paternally Derived X Chromosome

Characteristics of hydatidiform moles: analysis of a prospective series with p57 immunohistochemistry and molecular genotyping

Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection

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