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Müllerian-Type Clear Cell Carcinoma of Donor Origin in a Male Patient with a Kidney Transplant: Ascertained by Molecular Testing

Clear cell carcinomas of Müllerian origin have a strong female predominance and only extremely rarely will arise within the kidney, presumably due to ectopic Müllerian embryogenesis. Herein, we report a unique case of metastatic Müllerian type clear cell carcinoma in a 37-year-old patient who had pr...

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Autores principales: Iorgulescu, J. Bryan, Shaw, Leah K., Rashid, Asif, Rao, Priya, Mandayam, Sreedhar, Patel, Keyur P., Schmeler, Kathleen M., Yang, Richard K., Msaouel, Pavlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605321/
https://www.ncbi.nlm.nih.gov/pubmed/37887551
http://dx.doi.org/10.3390/curroncol30100651
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author Iorgulescu, J. Bryan
Shaw, Leah K.
Rashid, Asif
Rao, Priya
Mandayam, Sreedhar
Patel, Keyur P.
Schmeler, Kathleen M.
Yang, Richard K.
Msaouel, Pavlos
author_facet Iorgulescu, J. Bryan
Shaw, Leah K.
Rashid, Asif
Rao, Priya
Mandayam, Sreedhar
Patel, Keyur P.
Schmeler, Kathleen M.
Yang, Richard K.
Msaouel, Pavlos
author_sort Iorgulescu, J. Bryan
collection PubMed
description Clear cell carcinomas of Müllerian origin have a strong female predominance and only extremely rarely will arise within the kidney, presumably due to ectopic Müllerian embryogenesis. Herein, we report a unique case of metastatic Müllerian type clear cell carcinoma in a 37-year-old patient who had previously received a transplanted kidney from his father at age 11 (due to severe bilateral vesicoureteral reflux) and remained on chronic immunosuppression. The tumor was highly aggressive and demonstrated somatic mutations in NF2 and SETD2. Imaging of the transplanted kidney did not reveal any clear evidence of malignancy. However, targeted multigene sequencing and short tandem repeat testing revealed that the cancer was of donor origin, presumably from ectopic Müllerian tissue transplanted to the patient along with the kidney graft. The tumor was resistant to first-line therapy with a triple combination of carboplatin plus paclitaxel plus bevacizumab, as well as to second-line immunotherapy with nivolumab plus ipilimumab after tapering down the patient’s immunosuppression. Despite the tumor being genetically distinct from the host, the use of immune checkpoint therapy with nivolumab plus ipilimumab did not yield a response. This unique case showcases the value of molecular testing in determining the tumor origin in patients with solid organ transplants who present with cancers of unknown primary. This can prompt the potential investigation of other recipients from the same donor.
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spelling pubmed-106053212023-10-28 Müllerian-Type Clear Cell Carcinoma of Donor Origin in a Male Patient with a Kidney Transplant: Ascertained by Molecular Testing Iorgulescu, J. Bryan Shaw, Leah K. Rashid, Asif Rao, Priya Mandayam, Sreedhar Patel, Keyur P. Schmeler, Kathleen M. Yang, Richard K. Msaouel, Pavlos Curr Oncol Case Report Clear cell carcinomas of Müllerian origin have a strong female predominance and only extremely rarely will arise within the kidney, presumably due to ectopic Müllerian embryogenesis. Herein, we report a unique case of metastatic Müllerian type clear cell carcinoma in a 37-year-old patient who had previously received a transplanted kidney from his father at age 11 (due to severe bilateral vesicoureteral reflux) and remained on chronic immunosuppression. The tumor was highly aggressive and demonstrated somatic mutations in NF2 and SETD2. Imaging of the transplanted kidney did not reveal any clear evidence of malignancy. However, targeted multigene sequencing and short tandem repeat testing revealed that the cancer was of donor origin, presumably from ectopic Müllerian tissue transplanted to the patient along with the kidney graft. The tumor was resistant to first-line therapy with a triple combination of carboplatin plus paclitaxel plus bevacizumab, as well as to second-line immunotherapy with nivolumab plus ipilimumab after tapering down the patient’s immunosuppression. Despite the tumor being genetically distinct from the host, the use of immune checkpoint therapy with nivolumab plus ipilimumab did not yield a response. This unique case showcases the value of molecular testing in determining the tumor origin in patients with solid organ transplants who present with cancers of unknown primary. This can prompt the potential investigation of other recipients from the same donor. MDPI 2023-10-05 /pmc/articles/PMC10605321/ /pubmed/37887551 http://dx.doi.org/10.3390/curroncol30100651 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Iorgulescu, J. Bryan
Shaw, Leah K.
Rashid, Asif
Rao, Priya
Mandayam, Sreedhar
Patel, Keyur P.
Schmeler, Kathleen M.
Yang, Richard K.
Msaouel, Pavlos
Müllerian-Type Clear Cell Carcinoma of Donor Origin in a Male Patient with a Kidney Transplant: Ascertained by Molecular Testing
title Müllerian-Type Clear Cell Carcinoma of Donor Origin in a Male Patient with a Kidney Transplant: Ascertained by Molecular Testing
title_full Müllerian-Type Clear Cell Carcinoma of Donor Origin in a Male Patient with a Kidney Transplant: Ascertained by Molecular Testing
title_fullStr Müllerian-Type Clear Cell Carcinoma of Donor Origin in a Male Patient with a Kidney Transplant: Ascertained by Molecular Testing
title_full_unstemmed Müllerian-Type Clear Cell Carcinoma of Donor Origin in a Male Patient with a Kidney Transplant: Ascertained by Molecular Testing
title_short Müllerian-Type Clear Cell Carcinoma of Donor Origin in a Male Patient with a Kidney Transplant: Ascertained by Molecular Testing
title_sort müllerian-type clear cell carcinoma of donor origin in a male patient with a kidney transplant: ascertained by molecular testing
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605321/
https://www.ncbi.nlm.nih.gov/pubmed/37887551
http://dx.doi.org/10.3390/curroncol30100651
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