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NUT Carcinoma—An Underdiagnosed Malignancy

NUT carcinoma (NC) is a rare and highly aggressive malignancy with a dismal prognosis and a median survival of 6–9 months only. Although very few cases of NC are reported each year, the true prevalence is estimated to be much higher, with NC potentially widely underdiagnosed due to the lack of aware...

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Autores principales: Lauer, Ulrich M., Hinterleitner, Martina, Horger, Marius, Ohnesorge, Paul V., Zender, Lars
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360329/
https://www.ncbi.nlm.nih.gov/pubmed/35957893
http://dx.doi.org/10.3389/fonc.2022.914031
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author Lauer, Ulrich M.
Hinterleitner, Martina
Horger, Marius
Ohnesorge, Paul V.
Zender, Lars
author_facet Lauer, Ulrich M.
Hinterleitner, Martina
Horger, Marius
Ohnesorge, Paul V.
Zender, Lars
author_sort Lauer, Ulrich M.
collection PubMed
description NUT carcinoma (NC) is a rare and highly aggressive malignancy with a dismal prognosis and a median survival of 6–9 months only. Although very few cases of NC are reported each year, the true prevalence is estimated to be much higher, with NC potentially widely underdiagnosed due to the lack of awareness. NC primarily occurs in midline structures including thorax, head, and neck; however, other sites such as pancreas and kidney are also affected, albeit at lower frequencies. NC is characterized by a single translocation involving the NUTM1 (NUT midline carcinoma family member 1) gene and different partner genes. The resulting fusion proteins initiate tumorigenesis through a mechanism involving BET (bromo-domain and extra-terminal motif) proteins such as Bromodomain-containing protein 4 (BRD4) and inordinate acetylation of chromatin, leading to the dysregulation of growth and differentiation genes. While no clinical characteristics are specific for NC, some histologic features can be indicative; therefore, patients with these tumor characteristics should be routinely tested for NUTM1. The diagnosis of NC using immunohistochemistry with a highly specific antibody is straightforward. There are currently no standard-of-care treatment options for patients with NC. However, novel therapies specifically addressing the unique tumorigenic mechanism are under investigation, including BET inhibitors. This review aims to raise awareness of this underdiagnosed cancer entity and provide all patients the opportunity to be properly diagnosed and referred to a clinical study.
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spelling pubmed-93603292022-08-10 NUT Carcinoma—An Underdiagnosed Malignancy Lauer, Ulrich M. Hinterleitner, Martina Horger, Marius Ohnesorge, Paul V. Zender, Lars Front Oncol Oncology NUT carcinoma (NC) is a rare and highly aggressive malignancy with a dismal prognosis and a median survival of 6–9 months only. Although very few cases of NC are reported each year, the true prevalence is estimated to be much higher, with NC potentially widely underdiagnosed due to the lack of awareness. NC primarily occurs in midline structures including thorax, head, and neck; however, other sites such as pancreas and kidney are also affected, albeit at lower frequencies. NC is characterized by a single translocation involving the NUTM1 (NUT midline carcinoma family member 1) gene and different partner genes. The resulting fusion proteins initiate tumorigenesis through a mechanism involving BET (bromo-domain and extra-terminal motif) proteins such as Bromodomain-containing protein 4 (BRD4) and inordinate acetylation of chromatin, leading to the dysregulation of growth and differentiation genes. While no clinical characteristics are specific for NC, some histologic features can be indicative; therefore, patients with these tumor characteristics should be routinely tested for NUTM1. The diagnosis of NC using immunohistochemistry with a highly specific antibody is straightforward. There are currently no standard-of-care treatment options for patients with NC. However, novel therapies specifically addressing the unique tumorigenic mechanism are under investigation, including BET inhibitors. This review aims to raise awareness of this underdiagnosed cancer entity and provide all patients the opportunity to be properly diagnosed and referred to a clinical study. Frontiers Media S.A. 2022-07-26 /pmc/articles/PMC9360329/ /pubmed/35957893 http://dx.doi.org/10.3389/fonc.2022.914031 Text en Copyright © 2022 Lauer, Hinterleitner, Horger, Ohnesorge and Zender https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Lauer, Ulrich M.
Hinterleitner, Martina
Horger, Marius
Ohnesorge, Paul V.
Zender, Lars
NUT Carcinoma—An Underdiagnosed Malignancy
title NUT Carcinoma—An Underdiagnosed Malignancy
title_full NUT Carcinoma—An Underdiagnosed Malignancy
title_fullStr NUT Carcinoma—An Underdiagnosed Malignancy
title_full_unstemmed NUT Carcinoma—An Underdiagnosed Malignancy
title_short NUT Carcinoma—An Underdiagnosed Malignancy
title_sort nut carcinoma—an underdiagnosed malignancy
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360329/
https://www.ncbi.nlm.nih.gov/pubmed/35957893
http://dx.doi.org/10.3389/fonc.2022.914031
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