Dataset Information

Circulating Cell Free DNA in the Diagnosis of Trophoblastic Tumors.

ABSTRACT: Gestational trophoblastic neoplasia (GTN) represents a group of diseases characterized by production of human chorionic gonadotropin (hCG). Since non-gestational tumors may occasionally secrete hCG, histopathological diagnosis is important for appropriate clinical management. However, a histopathological diagnosis is not always available. We therefore investigated the feasibility of extracting cell free DNA (cfDNA) from the plasma of women with GTN for use as a "liquid biopsy" in patients without histopathological diagnosis. cfDNA was prepared from the plasma of 20 women with a diagnosis of GTN and five with hCG-secreting tumors of unknown origin. Genotyping of cfDNA from the patient, genomic DNA from her and her partner and DNA from the tumor tissue identified circulating tumor DNA (ctDNA) (from 9% to 53% of total cfDNA) in 12 of 20 patients with GTN. In one case without a tissue diagnosis, ctDNA enabled a diagnosis of GTN originating in a non-molar conception and in another a diagnosis of non-gestational tumor, based on the high degree of allelic instability and loss of heterozygosity in the ctDNA. In summary ctDNA can be detected in the plasma of women with GTN and can facilitate the diagnosis of both gestational and non-gestational trophoblastic tumors in cases without histopathological diagnosis.

SUBMITTER: Openshaw MR

PROVIDER: S-EPMC4776063 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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Circulating Cell Free DNA in the Diagnosis of Trophoblastic Tumors.

Openshaw Mark R MR Harvey Richard A RA Sebire Neil J NJ Kaur Baljeet B Sarwar Naveed N Seckl Michael J MJ Fisher Rosemary A RA

EBioMedicine 20151229

Gestational trophoblastic neoplasia (GTN) represents a group of diseases characterized by production of human chorionic gonadotropin (hCG). Since non-gestational tumors may occasionally secrete hCG, histopathological diagnosis is important for appropriate clinical management. However, a histopathological diagnosis is not always available. We therefore investigated the feasibility of extracting cell free DNA (cfDNA) from the plasma of women with GTN for use as a "liquid biopsy" in patients withou ...[more]

PMID: 26981554

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Dataset Information

Circulating Cell Free DNA in the Diagnosis of Trophoblastic Tumors.

Publications

Circulating Cell Free DNA in the Diagnosis of Trophoblastic Tumors.

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