A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab-paclitaxel
© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd..
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.
Medienart: |
E-Artikel |
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Erscheinungsjahr: |
2021 |
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Erschienen: |
2021 |
Enthalten in: |
Zur Gesamtaufnahme - volume:9 |
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Enthalten in: |
Clinical case reports - 9(2021), 8 vom: 01. Aug., Seite e04616 |
Sprache: |
Englisch |
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Beteiligte Personen: |
Patel, Shetal A [VerfasserIn] |
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Links: |
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Themen: |
Case Reports |
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Anmerkungen: |
Date Revised 26.04.2022 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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doi: |
10.1002/ccr3.4616 |
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funding: |
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Förderinstitution / Projekttitel: |
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PPN (Katalog-ID): |
NLM329732242 |
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520 | |a © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. | ||
520 | |a BACKGROUND: NUT carcinoma is an aggressive malignancy characterized by translocations in the NUTM1 gene. There are currently no consensus treatment recommendations for NUT carcinomas | ||
520 | |a 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 | ||
520 | |a 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 | ||
520 | |a 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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650 | 4 | |a NUT carcinoma | |
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700 | 1 | |a Yarbrough, Wendell G |e verfasserin |4 aut | |
700 | 1 | |a Weiss, Jared |e verfasserin |4 aut | |
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