Unveiling the genomic landscape of possible metastatic malignant transformation of teratoma secondary to cisplatin-chemotherapy: a Tempus gene analysis-based case report literature review

In this case report, we describe a patient who developed metastatic liver cancer of unknown primary origin one year following the surgical removal of a retroperitoneal adenocarcinoma. The retroperitoneal adenocarcinoma is considered a malignant transformation of teratoma (MTT), given the patient’s d...

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Main Authors: Christian M. Farag, Elena K. Johnston, Ryan M. Antar, Shaher G. Issa, Qasim Gadiwalla, Zoon Tariq, Sun A. Kim, Michael J. Whalen
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Oncology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2023.1192843/full
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author Christian M. Farag
Elena K. Johnston
Ryan M. Antar
Shaher G. Issa
Qasim Gadiwalla
Zoon Tariq
Sun A. Kim
Michael J. Whalen
author_facet Christian M. Farag
Elena K. Johnston
Ryan M. Antar
Shaher G. Issa
Qasim Gadiwalla
Zoon Tariq
Sun A. Kim
Michael J. Whalen
author_sort Christian M. Farag
collection DOAJ
description In this case report, we describe a patient who developed metastatic liver cancer of unknown primary origin one year following the surgical removal of a retroperitoneal adenocarcinoma. The retroperitoneal adenocarcinoma is considered a malignant transformation of teratoma (MTT), given the patient’s distant history of testicular tumor excised 25 years prior and treated with chemotherapy. Despite no primary tumor being identified, the leading primary hypothesis is that the liver metastasis stemmed from the resected retroperitoneal adenocarcinoma from one year prior. We theorize that the patient’s cisplatin-based chemotherapy 25 years ago may have triggered the MTT, as documented in the existing literature. Using TEMPUS gene testing on both the retroperitoneal adenocarcinoma and the recently discovered liver metastasis, we identified several genes with variants of unknown significance (VUS) that could potentially be linked to cisplatin chemotherapy resistance. While we cannot conclude that this patient definitively underwent MTT, it remains the most plausible explanation. Future research should investigate both the validity of the genes we have uncovered with respect to cisplatin resistance, as well as other genes associated with cisplatin resistance to further understand the pathogenesis of cisplatin resistance for better prediction of treatment response. As the world of medicine shifts towards individualized therapies and precision medicine, reporting and analyzing genetic mutations derived from tumors remains imperative. Our case report aims to contribute to the growing database of defined mutations and underscores the immense potential of genetic analysis in directing personalized treatment options.
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spelling doaj.art-95fe6815869e4ed49ce70d6a11300d212023-06-22T09:17:45ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-06-011310.3389/fonc.2023.11928431192843Unveiling the genomic landscape of possible metastatic malignant transformation of teratoma secondary to cisplatin-chemotherapy: a Tempus gene analysis-based case report literature reviewChristian M. Farag0Elena K. Johnston1Ryan M. Antar2Shaher G. Issa3Qasim Gadiwalla4Zoon Tariq5Sun A. Kim6Michael J. Whalen7Department of Medicine, George Washington University School of Medicine, Washington, DC, United StatesDepartment of Medicine, George Washington University School of Medicine, Washington, DC, United StatesDepartment of Urology, George Washington University School of Medicine, Washington, DC, United StatesDepartment of Medicine, George Washington University School of Medicine, Washington, DC, United StatesDepartment of Surgery, George Washington University School of Medicine, Washington, DC, United StatesDepartment of Pathology, George Washington University School of Medicine and Health Sciences, Washington, DC, United StatesDepartment of Pathology, George Washington University School of Medicine and Health Sciences, Washington, DC, United StatesDepartment of Urology, George Washington University School of Medicine, Washington, DC, United StatesIn this case report, we describe a patient who developed metastatic liver cancer of unknown primary origin one year following the surgical removal of a retroperitoneal adenocarcinoma. The retroperitoneal adenocarcinoma is considered a malignant transformation of teratoma (MTT), given the patient’s distant history of testicular tumor excised 25 years prior and treated with chemotherapy. Despite no primary tumor being identified, the leading primary hypothesis is that the liver metastasis stemmed from the resected retroperitoneal adenocarcinoma from one year prior. We theorize that the patient’s cisplatin-based chemotherapy 25 years ago may have triggered the MTT, as documented in the existing literature. Using TEMPUS gene testing on both the retroperitoneal adenocarcinoma and the recently discovered liver metastasis, we identified several genes with variants of unknown significance (VUS) that could potentially be linked to cisplatin chemotherapy resistance. While we cannot conclude that this patient definitively underwent MTT, it remains the most plausible explanation. Future research should investigate both the validity of the genes we have uncovered with respect to cisplatin resistance, as well as other genes associated with cisplatin resistance to further understand the pathogenesis of cisplatin resistance for better prediction of treatment response. As the world of medicine shifts towards individualized therapies and precision medicine, reporting and analyzing genetic mutations derived from tumors remains imperative. Our case report aims to contribute to the growing database of defined mutations and underscores the immense potential of genetic analysis in directing personalized treatment options.https://www.frontiersin.org/articles/10.3389/fonc.2023.1192843/fullcisplatin (CAS Number: 15663-27-1)malignant transformation of teratomachemotherapy resistanceTEMPUSgeneticsretroperitoneal
spellingShingle Christian M. Farag
Elena K. Johnston
Ryan M. Antar
Shaher G. Issa
Qasim Gadiwalla
Zoon Tariq
Sun A. Kim
Michael J. Whalen
Unveiling the genomic landscape of possible metastatic malignant transformation of teratoma secondary to cisplatin-chemotherapy: a Tempus gene analysis-based case report literature review
Frontiers in Oncology
cisplatin (CAS Number: 15663-27-1)
malignant transformation of teratoma
chemotherapy resistance
TEMPUS
genetics
retroperitoneal
title Unveiling the genomic landscape of possible metastatic malignant transformation of teratoma secondary to cisplatin-chemotherapy: a Tempus gene analysis-based case report literature review
title_full Unveiling the genomic landscape of possible metastatic malignant transformation of teratoma secondary to cisplatin-chemotherapy: a Tempus gene analysis-based case report literature review
title_fullStr Unveiling the genomic landscape of possible metastatic malignant transformation of teratoma secondary to cisplatin-chemotherapy: a Tempus gene analysis-based case report literature review
title_full_unstemmed Unveiling the genomic landscape of possible metastatic malignant transformation of teratoma secondary to cisplatin-chemotherapy: a Tempus gene analysis-based case report literature review
title_short Unveiling the genomic landscape of possible metastatic malignant transformation of teratoma secondary to cisplatin-chemotherapy: a Tempus gene analysis-based case report literature review
title_sort unveiling the genomic landscape of possible metastatic malignant transformation of teratoma secondary to cisplatin chemotherapy a tempus gene analysis based case report literature review
topic cisplatin (CAS Number: 15663-27-1)
malignant transformation of teratoma
chemotherapy resistance
TEMPUS
genetics
retroperitoneal
url https://www.frontiersin.org/articles/10.3389/fonc.2023.1192843/full
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