Immature Teratomas of Different Origin Carried by a Pregnant Mother and Her Fetus

Poremba, C.; Dockhorn‐Dworniczak, Barbara; Merritt,; Cy, Li; Heidl, G.; Pf, Tauber; Böcker, W.; Dw, Yandell

doi:10.1097/00019606-199300020-00021

Cited by 17 publications

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“…Here we describe the genetic analysis carried out in a previously reported case of a mother and daughter who were both diagnosed with histopathologically similar immature teratomas (ITs) (Figure ) . Some classification systems group ITs under malignant germ cell tumours (GCTs) ; however, their behaviour differs slightly from other malignant GCTs in that they tend to be locally aggressive, whereas the less differentiated tumours are more malignant .…”

Section: Introductionmentioning

confidence: 99%

“…The case we analysed was originally reported in 1993, when a malignant tumour was detected in the ovary of a 27 year‐old pregnant woman during a caesarean section and an identical tumour was later found in the midline of the brain of her daughter. After establishing through microsatellite analysis that the histologically identical tumours were of different origin, full sequencing of TP53 was undertaken and no mutations were identified . We suspected that, due to the shared histological features of the tumours as well as the age of the patients, a single dominantly‐inherited mutation in a cancer‐associated gene was likely to be present in the mother and child.…”

Section: Introductionmentioning

confidence: 99%

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Familial rhabdoid tumour 'avant la lettre '-from pathology review to exome sequencing and back again

et al. 2013

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Here we provide compelling evidence that next-generation sequencing will revolutionize diagnostics. We reappraised a case from 1991, published in 1993, describing the unique occurrence of an ovarian immature teratoma arising in a young woman and a clonally distinct intracerebral immature teratoma developing in her daughter. We conducted whole-exome sequencing on constitutional DNA from the mother and her daughter and identified a previously unreported nonsense mutation (c.3533G>A; p.Trp1178*) in the chromatin remodelling gene, SMARCA4, that was present in both individuals and was subject to nonsense-mediated decay. Tumour analysis by Sanger sequencing revealed a somatic SMARCA4 mutation in both the mother (c.2438+1G>T) and her daughter (c.3229C>T; p.Arg1077*), which are predicted to be truncating. As immature teratomas are classified as germ cell tumours, we performed a comprehensive mutation survey of 106 apparently sporadic germ cell tumours, but did not find any other clearly deleterious SMARCA4 mutations. Recently, inactivating mutations in SMARCA4 have been found in two cases of rhabdoid tumour predisposition syndrome type 2. In the light of these findings, renewed efforts to locate previously unobtainable tumour samples were successfully undertaken. Histopathological and immunohistochemical re-analysis of the daughter's tumour revealed that it was indeed a rhabdoid tumour (atypical teratoid/rhabdoid tumour). In this context, the original pathology report of the mother's ovarian tumour was re-interpreted as describing a malignant rhabdoid tumour of the ovary. This report raises the question as to whether molecular genetic analysis should be included in tumour classification, alongside more traditional microscopy-based methods. The use of new sequencing technologies, particularly when applied to archived samples, will lead to many more 'molecular rediagnoses'. This is the earliest known case of rhabdoid tumour predisposition syndrome type 2 and the first described case with an autosomal dominant pattern of inheritance, only discovered through an exome sequencing project.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Familial rhabdoid tumour 'avant la lettre '-from pathology review to exome sequencing and back again

et al. 2013

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“…A similar karyotype with duplication of a portion of chromosome 1 was found in a case of epignathus with brain invasion [46,XX,inv dup(1)(qter->q21::p35->qter] [3]. The only previous investigation by molecular genetic means was performed in a mother and her unborn child, who both carried an immature teratoma: performance of both polymerase chain reaction (PCR) and electrophoresis of highly polymorphic DNA satellite sequences made it possible to determine an independent and nonmonoclonal origin of both neoplasms [6]. However, no CGH analysis of a fetal brain tumour has been reported previously; this method has the advantage of allowing screening of the whole genome for chromosomal gains and losses without laborious marking of selective DNA sequences.…”

Section: Discussionmentioning

confidence: 58%

No chromosomal imbalances detected by comparative genomic hybridisation in a case of fetal immature teratoma

Rickert

Paulus

2002

Child's Nervous System

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This indicates that mono- or trisomies did not have a role in the pathogenesis in this particular case and that a fetal immature teratoma may contain aberrations smaller than the detection threshold of CGH. However, it remains to be seen in larger cohorts whether fetal teratomas follow a different pathogenetic pathway and may be triggered by different molecular events than teratomas occurring in later life.

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“…The BEP protocol has been recommended for the treatment of immature teratomas even though there is limited experience for using this regimen during pregnancy (15,28). The BEP treatment has been associated with ventriculomegaly, transient neonatal neutropenia and bilateral sensorineural hearing loss in two cases (11). More data are needed to determine the safety of these medications during pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Ovarian Immature Teratoma Detected During Pregnancy

Hasdemir¹,

Güvenal²,

Menekşe³

et al. 2015

Med Sci and Discov

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Immature Teratomas of Different Origin Carried by a Pregnant Mother and Her Fetus

Cited by 17 publications

References 0 publications

Familial rhabdoid tumour 'avant la lettre '-from pathology review to exome sequencing and back again

Familial rhabdoid tumour 'avant la lettre '-from pathology review to exome sequencing and back again

No chromosomal imbalances detected by comparative genomic hybridisation in a case of fetal immature teratoma

Ovarian Immature Teratoma Detected During Pregnancy

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