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Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome

Muir-Torre Syndrome (MTS) is a rare autosomal-dominant genetic condition linked to germline mutations in DNA mismatch repair (MMR) genes, resulting in microsatellite instability. It is considered a variant of Lynch syndrome characterized by the association of at least one sebaceous skin tumor and at...

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Autores principales: Qudaih, Ahmed T, Al Ashour, Bayan H, Naim, Abdulrahman k, Joudeh, Amani A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396404/
https://www.ncbi.nlm.nih.gov/pubmed/34466316
http://dx.doi.org/10.7759/cureus.16642
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author Qudaih, Ahmed T
Al Ashour, Bayan H
Naim, Abdulrahman k
Joudeh, Amani A
author_facet Qudaih, Ahmed T
Al Ashour, Bayan H
Naim, Abdulrahman k
Joudeh, Amani A
author_sort Qudaih, Ahmed T
collection PubMed
description Muir-Torre Syndrome (MTS) is a rare autosomal-dominant genetic condition linked to germline mutations in DNA mismatch repair (MMR) genes, resulting in microsatellite instability. It is considered a variant of Lynch syndrome characterized by the association of at least one sebaceous skin tumor and at least one internal malignancy. In addition, it has been shown that a latent phenotype of MTS might be unmasked in transplant organ recipients and immunosuppressed patients. The diagnosis and treatment of such cases require a multidisciplinary approach. Here, we present a case of a kidney transplant recipient who developed multiple sebaceous carcinomas 16 years after kidney transplantation and daily immunosuppressive medication. The patient then developed multiple contemporaneous internal malignancies in the esophagus and colon with metastases to the lung, thyroid, and lymph nodes, all of which were eventually linked to MTS. To our knowledge, this is the first reported case of MTS in the Arab world and the first reported case of esophageal cancer in relation to MTS in a transplant recipient. Because patients with MTS have a high tendency of developing malignancies, patients with a strong family history of malignancies, any known mutations, or an immunocompromised status should be included in an extensive screening program.
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spelling pubmed-83964042021-08-30 Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome Qudaih, Ahmed T Al Ashour, Bayan H Naim, Abdulrahman k Joudeh, Amani A Cureus Genetics Muir-Torre Syndrome (MTS) is a rare autosomal-dominant genetic condition linked to germline mutations in DNA mismatch repair (MMR) genes, resulting in microsatellite instability. It is considered a variant of Lynch syndrome characterized by the association of at least one sebaceous skin tumor and at least one internal malignancy. In addition, it has been shown that a latent phenotype of MTS might be unmasked in transplant organ recipients and immunosuppressed patients. The diagnosis and treatment of such cases require a multidisciplinary approach. Here, we present a case of a kidney transplant recipient who developed multiple sebaceous carcinomas 16 years after kidney transplantation and daily immunosuppressive medication. The patient then developed multiple contemporaneous internal malignancies in the esophagus and colon with metastases to the lung, thyroid, and lymph nodes, all of which were eventually linked to MTS. To our knowledge, this is the first reported case of MTS in the Arab world and the first reported case of esophageal cancer in relation to MTS in a transplant recipient. Because patients with MTS have a high tendency of developing malignancies, patients with a strong family history of malignancies, any known mutations, or an immunocompromised status should be included in an extensive screening program. Cureus 2021-07-26 /pmc/articles/PMC8396404/ /pubmed/34466316 http://dx.doi.org/10.7759/cureus.16642 Text en Copyright © 2021, Qudaih 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 Genetics
Qudaih, Ahmed T
Al Ashour, Bayan H
Naim, Abdulrahman k
Joudeh, Amani A
Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome
title Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome
title_full Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome
title_fullStr Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome
title_full_unstemmed Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome
title_short Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome
title_sort kidney transplant recipient with multiple contemporaneous malignancies secondary to muir-torre syndrome
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396404/
https://www.ncbi.nlm.nih.gov/pubmed/34466316
http://dx.doi.org/10.7759/cureus.16642
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