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Next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: A case report

Gestational choriocarcinoma is a gestational trophoblastic neoplasia (GTN) originating from trophoblastic cells with abnormal proliferation. Although chemotherapy is effective for treating this cancer, when patients develop chemoresistance, personalized treatment, such as the use of drugs matching t...

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Autores principales: Niimi, Kaoru, Yamamoto, Eiko, Morita, Sachi, Morikawa, Maki, Hattori, Hikaru, Hatakeyama, Miki, Morita, Mami, Nishino, Kimihiro, Oda, Yukari, Watanabe, Eri, Yamamoto, Toshimichi, Kajiyama, Hiroaki, Kikkawa, Fumitaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165691/
https://www.ncbi.nlm.nih.gov/pubmed/34094541
http://dx.doi.org/10.3892/mco.2021.2305
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author Niimi, Kaoru
Yamamoto, Eiko
Morita, Sachi
Morikawa, Maki
Hattori, Hikaru
Hatakeyama, Miki
Morita, Mami
Nishino, Kimihiro
Oda, Yukari
Watanabe, Eri
Yamamoto, Toshimichi
Kajiyama, Hiroaki
Kikkawa, Fumitaka
author_facet Niimi, Kaoru
Yamamoto, Eiko
Morita, Sachi
Morikawa, Maki
Hattori, Hikaru
Hatakeyama, Miki
Morita, Mami
Nishino, Kimihiro
Oda, Yukari
Watanabe, Eri
Yamamoto, Toshimichi
Kajiyama, Hiroaki
Kikkawa, Fumitaka
author_sort Niimi, Kaoru
collection PubMed
description Gestational choriocarcinoma is a gestational trophoblastic neoplasia (GTN) originating from trophoblastic cells with abnormal proliferation. Although chemotherapy is effective for treating this cancer, when patients develop chemoresistance, personalized treatment, such as the use of drugs matching their genomes, is required. The present report describes a case of intractable gestational choriocarcinoma identified using a next-generation sequencing (NGS)-based tumor panel. A 51-year-old woman was diagnosed with gestational choriocarcinoma via pathological and short tandem repeat analyses. The patient did not achieve remission despite many regimens of chemotherapy, including high-dose therapy with autologous peripheral blood stem cell transplantation. To identify drugs tailored to this particular choriocarcinoma, NGS was performed on the tumor of the patient, and the tumor genome was compared with that of the patient's blood sample using the NCC Oncopanel System. Consequently, 245 single nucleotide variants (SNVs) with a mean SNV allele frequency of 63.1% were identified. This high frequency was because the genome of the gestational choriocarcinoma contained part of the genome of the partner. Therefore, our experience of the present intractable case of choriocarcinoma suggested that matched normal-tumor pair analysis is not appropriate for treatment decisions in GTN cases. When using an NGS-based tumor panel to assess choriocarcinoma, researchers must consider whether the genomic DNA of the patient and their partner are involved in the GTN.
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spelling pubmed-81656912021-06-03 Next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: A case report Niimi, Kaoru Yamamoto, Eiko Morita, Sachi Morikawa, Maki Hattori, Hikaru Hatakeyama, Miki Morita, Mami Nishino, Kimihiro Oda, Yukari Watanabe, Eri Yamamoto, Toshimichi Kajiyama, Hiroaki Kikkawa, Fumitaka Mol Clin Oncol Articles Gestational choriocarcinoma is a gestational trophoblastic neoplasia (GTN) originating from trophoblastic cells with abnormal proliferation. Although chemotherapy is effective for treating this cancer, when patients develop chemoresistance, personalized treatment, such as the use of drugs matching their genomes, is required. The present report describes a case of intractable gestational choriocarcinoma identified using a next-generation sequencing (NGS)-based tumor panel. A 51-year-old woman was diagnosed with gestational choriocarcinoma via pathological and short tandem repeat analyses. The patient did not achieve remission despite many regimens of chemotherapy, including high-dose therapy with autologous peripheral blood stem cell transplantation. To identify drugs tailored to this particular choriocarcinoma, NGS was performed on the tumor of the patient, and the tumor genome was compared with that of the patient's blood sample using the NCC Oncopanel System. Consequently, 245 single nucleotide variants (SNVs) with a mean SNV allele frequency of 63.1% were identified. This high frequency was because the genome of the gestational choriocarcinoma contained part of the genome of the partner. Therefore, our experience of the present intractable case of choriocarcinoma suggested that matched normal-tumor pair analysis is not appropriate for treatment decisions in GTN cases. When using an NGS-based tumor panel to assess choriocarcinoma, researchers must consider whether the genomic DNA of the patient and their partner are involved in the GTN. D.A. Spandidos 2021-07 2021-05-23 /pmc/articles/PMC8165691/ /pubmed/34094541 http://dx.doi.org/10.3892/mco.2021.2305 Text en Copyright: © Niimi et al. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Articles
Niimi, Kaoru
Yamamoto, Eiko
Morita, Sachi
Morikawa, Maki
Hattori, Hikaru
Hatakeyama, Miki
Morita, Mami
Nishino, Kimihiro
Oda, Yukari
Watanabe, Eri
Yamamoto, Toshimichi
Kajiyama, Hiroaki
Kikkawa, Fumitaka
Next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: A case report
title Next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: A case report
title_full Next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: A case report
title_fullStr Next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: A case report
title_full_unstemmed Next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: A case report
title_short Next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: A case report
title_sort next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: a case report
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165691/
https://www.ncbi.nlm.nih.gov/pubmed/34094541
http://dx.doi.org/10.3892/mco.2021.2305
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