Advanced ovarian cancer treated in pregnancy and detected by cell-free DNA aneuploidy screening

Mitchell, Christina N. Cordeiro; Murdock, Tricia; Fader, Amanda N.; Stone, Rebecca L.

doi:10.1016/j.gore.2018.03.006

Cited by 4 publications

(6 citation statements)

References 9 publications

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“…Of the 27 full articles screened, 13 articles were identified as relevant, presenting case reports of malignant disease in pregnant women with relation to aberrant NIPT results 20–32 . From these, 43 unique case reports of malignancy related to an unusual NIPT were found.…”

Section: Resultsmentioning

confidence: 99%

Incidental finding of maternal malignancy in an unusual non‐invasive prenatal test and a review of similar cases

Moellgaard

Lund

Becher

et al. 2022

Clinical Case Reports

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We present a clinical case where a complex abnormal non-invasive prenatal test (NIPT) result in a research project revealed carcinoma of the breast in the pregnant woman. Furthermore, the NIPT result did not demonstrate the same fetal chromosomal aberration as the chorion villus sample. A literature search for similar cases was performed identifying 43 unique cases, where abnormal NIPT results were related to maternal malignancy. Malignancy is a rare but important cause of complex abnormal non-invasive prenatal test (NIPT) results and should be considered when fetal karyotype and abnormal NIPT results are discordant. Furthermore, a follow-up invasive sample is essential for correct fetal diagnosis when abnormal NIPT results are found.

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Section: Resultsmentioning

confidence: 99%

Incidental finding of maternal malignancy in an unusual non‐invasive prenatal test and a review of similar cases

Moellgaard

Lund

Becher

et al. 2022

Clinical Case Reports

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“…The incidence of cancer in pregnancy is approximately 1 in 1000 2,3,5 whilst the incidence of opportunistically diagnosed cancer using cfDNA screening is around 1 in 10,000, resulting in a putative detection rate of 10% 2 . The low detection rate may be due to; low levels of circulating cfDNA from the tumour; not all tumours having cytogenetic features detectable in this manner; and a failure to detect, recognise and report the tumour cfDNA signature.…”

Section: Figurementioning

confidence: 99%

“…The malignancy prevalence when a cfDNA test identifies multiple aneuploidies is approximately 18% 2,3,5,6 but only 4% with a single monosomy 5 . This positive predictive value is partly due to uterine fibroids that may have genome‐wide imbalances mimicking malignancy 4,7,8 …”

Section: Figurementioning

confidence: 99%

“…The most common malignancies include Hodgkin and non‐Hodgkin lymphoma, cancer of the breast, colon, ovary or cervix, malignant melanoma and leukaemia. Based on the literature and the authors' experience, the following diagnostic work‐up is suggested 5 . Historical exploration should include fatigue, night sweats, unintentional weight loss, pain and a family history of cancer.…”

Section: Figurementioning

confidence: 99%

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Concurrent maternal malignancy and fetal trisomy detected using genome‐wide noninvasive prenatal screening

et al. 2021

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Key points What is already known about the topic? Multiple aneuploidies identified on cell‐free DNA (cfDNA) testing have an 18% positive predictive value for maternal malignancy. Tumours often contain multiple chromosome errors including oncogene duplications. In these instances, screening on more limited cfDNA screening platforms typically result in a technical failure or “no call”. What is new about the topic? Genome‐wide cfDNA assesses all chromosomes, including segmental aneuploidy, providing sufficient resolution for the detection of some cases of oncogene duplication. Genome‐wide cfDNA screening is a commercial reality. The debate should now focus on how best to manage the additional information these assays provide.

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“…The discovery of non-invasive methods, like liquid biopsy, has led to progress in cancer diagnostics 8 , specifically, to improved diagnosis of lung, blood, colorectal and cervical cancers, among others. At the same time, liquid biopsy analysis of cell-free DNA (cfDNA) in plasma, saliva and urine has helped determine the survival prognosis [9][10][11][12][13] of patients. CfDNA fragments appear in the plasma because of cellular apoptosis or necrosis.…”

Section: Introductionmentioning

confidence: 99%

The applications of circulating cell-free DNA for oral squamous cell carcinoma patients as non-invasive diagnostics of structural variants, fusions and oncoviruses

Bhattacharya,

Yaniv,

Yosefof

et al. 2023

Preprint

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Circulating cell-free DNA (cfDNA) has been widely used as a prognostic marker of different cancers. In this study, we used cfDNA from oral squamous cell carcinoma (OSCC) patients to study various correlation factors that could improve early-stage diagnostics and prognosis. We found that OSCC patient cfDNA concentration can serve as an indicator of tumor stage, malignancy, and survival prognosis. Deep genome sequencing of cfDNA revealed genomic alterations, such as copy number variation, fusion gene identification, and viral integration. Copy number variation analysis suggested correlation with amplification and deletions in chromosome 1 at loci 1q, 2q, 3p, 3q and 8q22. Moreover, at these loci, amplification ofTP53, PIK3CAand other genes related to keratinization in relapsed OSCC was observed. In addition, we identified a novel fusion gene,TRMO-TRNT1, in seven high-grade tumor samples. The parent genes of this chimera,TRMOandTRNT1, are known to play roles in tRNA modification and DNA repair. Liquid biopsy may thus serve as a sensitive tool to study OSCC patient genomic alterations by addressing cfDNA circulating in the plasma, using an easy-to-use blood test. Finally, we detected integrations of human papilloma virus, simian virus and enterovirus that may point to the origins of OSCC.

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Advanced ovarian cancer treated in pregnancy and detected by cell-free DNA aneuploidy screening

Abstract: HighlightsAbnormal cell free DNA results may indicate occult maternal malignancy.Cesarean-cytoreductive surgery is feasible even with significant disease burden.Carboplatin/paclitaxel is first line for epithelial ovarian cancer in pregnancy.

Cited by 4 publications

References 9 publications

Incidental finding of maternal malignancy in an unusual non‐invasive prenatal test and a review of similar cases

Incidental finding of maternal malignancy in an unusual non‐invasive prenatal test and a review of similar cases

Concurrent maternal malignancy and fetal trisomy detected using genome‐wide noninvasive prenatal screening

The applications of circulating cell-free DNA for oral squamous cell carcinoma patients as non-invasive diagnostics of structural variants, fusions and oncoviruses

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