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

Erscheinungsjahr:

2021

Erschienen:

2021

Enthalten in:

Zur Gesamtaufnahme - volume:9

Enthalten in:

Clinical case reports - 9(2021), 8 vom: 01. Aug., Seite e04616

Sprache:

Englisch

Beteiligte Personen:

Patel, Shetal A [VerfasserIn]
Singer, Bart [VerfasserIn]
Shen, Colette [VerfasserIn]
Zanation, Adam M [VerfasserIn]
Yarbrough, Wendell G [VerfasserIn]
Weiss, Jared [VerfasserIn]

Links:

Volltext

Themen:

Case Reports
Chemotherapy
NUT carcinoma
NUTM1 fusion
Next‐generation sequencing

Anmerkungen:

Date Revised 26.04.2022

published: Electronic-eCollection

Citation Status PubMed-not-MEDLINE

doi:

10.1002/ccr3.4616

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM329732242