A triplet pregnancy featuring a 47, XY + 9 heterozygous complete mole coexisting with two fetuses at 9 weeks

Suzuki, Masaki; Itakura, Atsuo; Ino, Kazuhiko; Yamamoto, Toshimitsu

doi:10.1080/00016340600608774

Cited by 6 publications

(7 citation statements)

References 9 publications

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“…1b). Subsequently, we performed DNA analysis at 15 STR loci using the capillary electrophoresis system 4 . Five‐micron sections were made on glass slides.…”

Section: Case Reportmentioning

confidence: 99%

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Gestational choriocarcinoma of Fallopian tube diagnosed with a combination of p57^KIP2 immunostaining and short tandem repeat analysis: Case report

Nakayama¹,

Namba²,

Yasuda

et al. 2011

J of Obstet and Gynaecol

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Tubal choriocarcinoma is an extremely rare condition and can be of gestational or non-gestational origin. The appropriate management of choriocarcinoma begins with the categorization of the tumor. However, it is difficult to discriminate the two types by routine histological examination. We report the first case of gestational choriocarcinoma of the Fallopian tube to be confirmed by a combination of p57(KIP2) immunostaining and DNA polymorphism analysis at 15 short tandem repeat loci, along with X and Y chromosome markers. The patient had no detectable metastasis or evidence of recurrence 15 months after treatment, which involved surgery without adjuvant chemotherapy. This case demonstrates the usefulness of a combination of p57(KIP2) immunostaining and DNA polymorphism analysis in determining the origin of extrauterine choriocarcinoma (i.e. gestational or non-gestational), which helps to determine the strategy for treatment of the disease.

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“…1b). Subsequently, we performed DNA analysis at 15 STR loci using the capillary electrophoresis system 4 . Five‐micron sections were made on glass slides.…”

Section: Case Reportmentioning

confidence: 99%

“…Subsequently, we performed DNA analysis at 15 STR loci using the capillary electrophoresis system. 4 Five-micron sections were made on glass slides. Histological structures of interest were carefully microdissected from hematoxylin-stained sections.…”

Section: Case Reportmentioning

confidence: 99%

Gestational choriocarcinoma of Fallopian tube diagnosed with a combination of p57^KIP2 immunostaining and short tandem repeat analysis: Case report

Nakayama¹,

Namba²,

Yasuda

et al. 2011

J of Obstet and Gynaecol

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“…All of the androgenetic CHMs with retained maternal chromosomes were heterozygous and dispermic [12][13][14] . Other than trisomy 11, two cases of androgenetic heterozygous CHM with trisomy 9 were reported 18,19 . This study and the reported cases imply that aneuploidy in dispermic CHMs is not rare.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, some of their chromosomes demonstrated trisomy 17 . The frequency of trisomy in androgenetic heterozygous CHMs has not been determined, although there have been a few case reports including p57KIP2-positive androgenetic CHM 12 – 14 , 18 – 20 . This study aimed to comprehensively analyse the genetic constitution of androgenetic dispermic CHMs and the parental origin of their additional chromosomes using SNP array data.…”

Section: Introductionmentioning

confidence: 99%

Parental contribution to trisomy in heterozygous androgenetic complete moles

Usui

Sato

Shozu

2020

Sci Rep

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Complete hydatidiform moles (CHMs) comprise a proliferative trophoblastic disorder and are known to be androgenetic and diploid. Androgenetic CHMs are classified as having monospermic and dispermic origins. Rarely, some CHMs have other genetic constitutions, such as biparental diploid or tetraploid. Previous studies have shown the possibility that androgenetic heterozygous CHMs have an additional chromosome with high frequency. This study aimed to comprehensively analyse the molecular karyotyping of androgenetic dispermic CHMs and the parental contribution of their additional chromosomes. Single-nucleotide polymorphism arrays were performed with the genomic DNA of CHMs and patients. The B allele frequency and selected B allele frequency plotting of CHM were visualised. Among the 31 dispermic CHMs, eight showed trisomy and one showed double trisomy; of the 10 additional chromosomes, seven were of maternal original and three were of paternal origin. In addition, three disomic chromosomes comprised one maternal and one paternal chromosome, although these should theoretically have had two paternal chromosomes in the case of androgenetic CHMs. The subclassification of heterozygous CHMs, with or without maternal contribution, is a new approach and could be a candidate indicator of gestational trophoblastic neoplasia risk.

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“…Both studies proved that the additional chromosome should be of maternal origin. Interestingly, all reported cases with a trisomy were androgenetic heterozygous CHMs but not homozygous CHMs 11,32–34 . In our series of more than one hundred homozygous androgenetic CHMs, we did not observe trisomy cases with maternal contribution 1 .…”

Section: Discussionmentioning

confidence: 99%

Genome-wide single nucleotide polymorphism array analysis unveils the origin of heterozygous androgenetic complete moles

Usui

Nakabayashi

Maehara

et al. 2019

Sci Rep

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Hydatidiform moles are abnormal pregnancies, which show trophoblastic hyperplasia. Most often, the nuclear genome in complete hydatidiform moles (CHMs) is composed of only paternal chromosomes. Diploid androgenetic conceptuses can be divided into homozygous and heterozygous CHMs. Heterozygous CHMs originate from two sperms or a diploid sperm, the distinction of which has not been established. Here, we assessed the origin of heterozygous CHMs using single nucleotide polymorphism (SNP) array. Thirteen heterozygous CHMs were analysed using B allele frequency (BAF) plotting to determine the centromeric zygosity status of all chromosomes. One case was from the duplication of a single sperm with an XY chromosome. In the other twelve cases, centromeric zygosity was random, i.e. mixed status. Thus, the twelve heterozygous CHMs were considered to be of dispermic origin but not diploid sperm origin. BAF plotting of SNP array can be a powerful tool to estimate the type of hydatidiform moles.

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A triplet pregnancy featuring a 47, XY + 9 heterozygous complete mole coexisting with two fetuses at 9 weeks

Cited by 6 publications

References 9 publications

Gestational choriocarcinoma of Fallopian tube diagnosed with a combination of p57^KIP2 immunostaining and short tandem repeat analysis: Case report

Gestational choriocarcinoma of Fallopian tube diagnosed with a combination of p57^KIP2 immunostaining and short tandem repeat analysis: Case report

Parental contribution to trisomy in heterozygous androgenetic complete moles

Genome-wide single nucleotide polymorphism array analysis unveils the origin of heterozygous androgenetic complete moles

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A triplet pregnancy featuring a 47, XY + 9 heterozygous complete mole coexisting with two fetuses at 9 weeks

Cited by 6 publications

References 9 publications

Gestational choriocarcinoma of Fallopian tube diagnosed with a combination of p57KIP2 immunostaining and short tandem repeat analysis: Case report

Gestational choriocarcinoma of Fallopian tube diagnosed with a combination of p57KIP2 immunostaining and short tandem repeat analysis: Case report

Parental contribution to trisomy in heterozygous androgenetic complete moles

Genome-wide single nucleotide polymorphism array analysis unveils the origin of heterozygous androgenetic complete moles

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Gestational choriocarcinoma of Fallopian tube diagnosed with a combination of p57^KIP2 immunostaining and short tandem repeat analysis: Case report

Gestational choriocarcinoma of Fallopian tube diagnosed with a combination of p57^KIP2 immunostaining and short tandem repeat analysis: Case report