A Carcinoma of Unknown Primary (CUP) Patient Treated Successfully With Immunotherapy Upon Recognition of Deficient Mismatch Repair Signature on Liquid Biopsy: A Case Report

Carcinoma of unknown primary (CUP) refers to a heterogeneous group of metastatic tumors in which the origin of the tumor is undetermined. Patients with CUP have limited treatment options and an overall poor prognosis. Genomic profiling of the tumor tissue sometimes reveals actionable mutations leadi...

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Detalles Bibliográficos
Autores principales: Cox, Ronald E, Chakrabarti, Sakti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393345/
https://www.ncbi.nlm.nih.gov/pubmed/36017278
http://dx.doi.org/10.7759/cureus.27184
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author Cox, Ronald E
Chakrabarti, Sakti
author_facet Cox, Ronald E
Chakrabarti, Sakti
author_sort Cox, Ronald E
collection PubMed
description Carcinoma of unknown primary (CUP) refers to a heterogeneous group of metastatic tumors in which the origin of the tumor is undetermined. Patients with CUP have limited treatment options and an overall poor prognosis. Genomic profiling of the tumor tissue sometimes reveals actionable mutations leading to targeted treatment opportunities. However, sufficient tumor tissue is not often available for genomic profiling. In such situations, circulating tumor DNA (ctDNA)-based tumor genomic profiling may be valuable, although robust data do not exist to support the role of ctDNA testing in patients with CUP. Herein, we report a patient with CUP who was successfully treated with an immune checkpoint inhibitor (ICI) after ctDNA testing revealed a deficient mismatch repair (dMMR) tumor.
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spelling pubmed-93933452022-08-24 A Carcinoma of Unknown Primary (CUP) Patient Treated Successfully With Immunotherapy Upon Recognition of Deficient Mismatch Repair Signature on Liquid Biopsy: A Case Report Cox, Ronald E Chakrabarti, Sakti Cureus Oncology Carcinoma of unknown primary (CUP) refers to a heterogeneous group of metastatic tumors in which the origin of the tumor is undetermined. Patients with CUP have limited treatment options and an overall poor prognosis. Genomic profiling of the tumor tissue sometimes reveals actionable mutations leading to targeted treatment opportunities. However, sufficient tumor tissue is not often available for genomic profiling. In such situations, circulating tumor DNA (ctDNA)-based tumor genomic profiling may be valuable, although robust data do not exist to support the role of ctDNA testing in patients with CUP. Herein, we report a patient with CUP who was successfully treated with an immune checkpoint inhibitor (ICI) after ctDNA testing revealed a deficient mismatch repair (dMMR) tumor. Cureus 2022-07-23 /pmc/articles/PMC9393345/ /pubmed/36017278 http://dx.doi.org/10.7759/cureus.27184 Text en Copyright © 2022, Cox et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Oncology
Cox, Ronald E
Chakrabarti, Sakti
A Carcinoma of Unknown Primary (CUP) Patient Treated Successfully With Immunotherapy Upon Recognition of Deficient Mismatch Repair Signature on Liquid Biopsy: A Case Report
title A Carcinoma of Unknown Primary (CUP) Patient Treated Successfully With Immunotherapy Upon Recognition of Deficient Mismatch Repair Signature on Liquid Biopsy: A Case Report
title_full A Carcinoma of Unknown Primary (CUP) Patient Treated Successfully With Immunotherapy Upon Recognition of Deficient Mismatch Repair Signature on Liquid Biopsy: A Case Report
title_fullStr A Carcinoma of Unknown Primary (CUP) Patient Treated Successfully With Immunotherapy Upon Recognition of Deficient Mismatch Repair Signature on Liquid Biopsy: A Case Report
title_full_unstemmed A Carcinoma of Unknown Primary (CUP) Patient Treated Successfully With Immunotherapy Upon Recognition of Deficient Mismatch Repair Signature on Liquid Biopsy: A Case Report
title_short A Carcinoma of Unknown Primary (CUP) Patient Treated Successfully With Immunotherapy Upon Recognition of Deficient Mismatch Repair Signature on Liquid Biopsy: A Case Report
title_sort carcinoma of unknown primary (cup) patient treated successfully with immunotherapy upon recognition of deficient mismatch repair signature on liquid biopsy: a case report
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393345/
https://www.ncbi.nlm.nih.gov/pubmed/36017278
http://dx.doi.org/10.7759/cureus.27184
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