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A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab‐paclitaxel

BACKGROUND: NUT carcinoma is an aggressive malignancy characterized by translocations in the NUTM1 gene. There are currently no consensus treatment recommendations for NUT carcinomas. METHODS: Here, we describe the case of a previously healthy male diagnosed with NUT carcinoma after presenting with...

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Autores principales: Patel, Shetal A., Singer, Bart, Shen, Colette, Zanation, Adam M., Yarbrough, Wendell G., Weiss, Jared
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365542/
https://www.ncbi.nlm.nih.gov/pubmed/34429997
http://dx.doi.org/10.1002/ccr3.4616
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author Patel, Shetal A.
Singer, Bart
Shen, Colette
Zanation, Adam M.
Yarbrough, Wendell G.
Weiss, Jared
author_facet Patel, Shetal A.
Singer, Bart
Shen, Colette
Zanation, Adam M.
Yarbrough, Wendell G.
Weiss, Jared
author_sort Patel, Shetal A.
collection PubMed
description BACKGROUND: NUT carcinoma is an aggressive malignancy characterized by translocations in the NUTM1 gene. There are currently no consensus treatment recommendations for NUT carcinomas. METHODS: Here, we describe the case of a previously healthy male diagnosed with NUT carcinoma after presenting with sinus pressure, found to have a sinonasal mass and distant metastatic disease in the lungs. While pathologic evaluation and immunohistochemistry were consistent with NUT carcinoma, initial genomic profiling did not demonstrate a NUTM1 translocation. RESULTS: Whole transcriptomic RNA sequencing of the tumor revealed a YAP1‐NUTM1 fusion. Based on an in vitro drug sensitivity screen, the patient was treated with gemcitabine and nab‐paclitaxel, achieving a partial response that persisted for 9 months. CONCLUSIONS: Unbiased transcriptomic sequencing may identify previously uncharacterized NUTM1 fusion partners. Gemcitabine and nab‐paclitaxel is a well‐tolerated combination chemotherapy regimen and could offer a novel treatment approach for NUT carcinoma.
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spelling pubmed-83655422021-08-23 A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab‐paclitaxel Patel, Shetal A. Singer, Bart Shen, Colette Zanation, Adam M. Yarbrough, Wendell G. Weiss, Jared Clin Case Rep Case Report BACKGROUND: NUT carcinoma is an aggressive malignancy characterized by translocations in the NUTM1 gene. There are currently no consensus treatment recommendations for NUT carcinomas. METHODS: Here, we describe the case of a previously healthy male diagnosed with NUT carcinoma after presenting with sinus pressure, found to have a sinonasal mass and distant metastatic disease in the lungs. While pathologic evaluation and immunohistochemistry were consistent with NUT carcinoma, initial genomic profiling did not demonstrate a NUTM1 translocation. RESULTS: Whole transcriptomic RNA sequencing of the tumor revealed a YAP1‐NUTM1 fusion. Based on an in vitro drug sensitivity screen, the patient was treated with gemcitabine and nab‐paclitaxel, achieving a partial response that persisted for 9 months. CONCLUSIONS: Unbiased transcriptomic sequencing may identify previously uncharacterized NUTM1 fusion partners. Gemcitabine and nab‐paclitaxel is a well‐tolerated combination chemotherapy regimen and could offer a novel treatment approach for NUT carcinoma. John Wiley and Sons Inc. 2021-08-16 /pmc/articles/PMC8365542/ /pubmed/34429997 http://dx.doi.org/10.1002/ccr3.4616 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, 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 Case Report
Patel, Shetal A.
Singer, Bart
Shen, Colette
Zanation, Adam M.
Yarbrough, Wendell G.
Weiss, Jared
A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab‐paclitaxel
title A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab‐paclitaxel
title_full A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab‐paclitaxel
title_fullStr A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab‐paclitaxel
title_full_unstemmed A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab‐paclitaxel
title_short A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab‐paclitaxel
title_sort case of metastatic nut carcinoma with prolonged response on gemcitabine and nab‐paclitaxel
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365542/
https://www.ncbi.nlm.nih.gov/pubmed/34429997
http://dx.doi.org/10.1002/ccr3.4616
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