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Alpha–fetoprotein elevation in NUT midline carcinoma: a case report

BACKGROUND: Nuclear protein in testis (NUT) midline carcinoma is a rarely diagnosed and potentially under-recognized type of squamous carcinoma that is considered one of the most aggressive human solid tumors. Alpha-fetoprotein elevation has been associated with chronic liver diseases and a limited...

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Autores principales: D’Ambrosio, Lorenzo, Palesandro, Erica, Moretti, Marina, Pelosi, Giuseppe, Fabbri, Alessandra, Carnevale Schianca, Fabrizio, Aglietta, Massimo, Grignani, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390376/
https://www.ncbi.nlm.nih.gov/pubmed/28407756
http://dx.doi.org/10.1186/s12885-017-3262-0
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author D’Ambrosio, Lorenzo
Palesandro, Erica
Moretti, Marina
Pelosi, Giuseppe
Fabbri, Alessandra
Carnevale Schianca, Fabrizio
Aglietta, Massimo
Grignani, Giovanni
author_facet D’Ambrosio, Lorenzo
Palesandro, Erica
Moretti, Marina
Pelosi, Giuseppe
Fabbri, Alessandra
Carnevale Schianca, Fabrizio
Aglietta, Massimo
Grignani, Giovanni
author_sort D’Ambrosio, Lorenzo
collection PubMed
description BACKGROUND: Nuclear protein in testis (NUT) midline carcinoma is a rarely diagnosed and potentially under-recognized type of squamous carcinoma that is considered one of the most aggressive human solid tumors. Alpha-fetoprotein elevation has been associated with chronic liver diseases and a limited number of cancers. In particular, in presence of a mediastinal mass in a young man, alpha-fetoprotein elevation is considered nearly pathognomonic of a non-seminoma germ-cell tumor. CASE PRESENTATION: A 22-year old man without any comorbidity was diagnosed with a large mediastinal mass with skeletal and lymph node metastases. The clinical picture was dominated by a life-threatening superior vena cava syndrome with elevated alpha-fetoprotein and lactate dehydrogenase that supported the diagnostic suspicion of mediastinal germ-cell tumor. However, a biopsy showed a poorly-differentiated and diffusely necrotic carcinoma. We eventually reached the diagnosis of the peculiar entity of NUT midline carcinoma, but the differential diagnosis was quite challenging also because alpha-fetoprotein is not reported as a marker of NUT midline carcinoma. Notably, alpha-fetoprotein levels correlated with disease course. CONCLUSIONS: The life-threatening aggressiveness of NUT midline carcinoma mandates to reach the right diagnosis in the shortest possible time. In this regard, poorly differentiated carcinomas lacking glandular differentiation mandate testing for NUT expression by immunohistochemistry. Awareness of a potentially misleading tumor marker elevation can help to broaden the differential diagnosis and establish the most appropriate treatment.
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spelling pubmed-53903762017-04-14 Alpha–fetoprotein elevation in NUT midline carcinoma: a case report D’Ambrosio, Lorenzo Palesandro, Erica Moretti, Marina Pelosi, Giuseppe Fabbri, Alessandra Carnevale Schianca, Fabrizio Aglietta, Massimo Grignani, Giovanni BMC Cancer Case Report BACKGROUND: Nuclear protein in testis (NUT) midline carcinoma is a rarely diagnosed and potentially under-recognized type of squamous carcinoma that is considered one of the most aggressive human solid tumors. Alpha-fetoprotein elevation has been associated with chronic liver diseases and a limited number of cancers. In particular, in presence of a mediastinal mass in a young man, alpha-fetoprotein elevation is considered nearly pathognomonic of a non-seminoma germ-cell tumor. CASE PRESENTATION: A 22-year old man without any comorbidity was diagnosed with a large mediastinal mass with skeletal and lymph node metastases. The clinical picture was dominated by a life-threatening superior vena cava syndrome with elevated alpha-fetoprotein and lactate dehydrogenase that supported the diagnostic suspicion of mediastinal germ-cell tumor. However, a biopsy showed a poorly-differentiated and diffusely necrotic carcinoma. We eventually reached the diagnosis of the peculiar entity of NUT midline carcinoma, but the differential diagnosis was quite challenging also because alpha-fetoprotein is not reported as a marker of NUT midline carcinoma. Notably, alpha-fetoprotein levels correlated with disease course. CONCLUSIONS: The life-threatening aggressiveness of NUT midline carcinoma mandates to reach the right diagnosis in the shortest possible time. In this regard, poorly differentiated carcinomas lacking glandular differentiation mandate testing for NUT expression by immunohistochemistry. Awareness of a potentially misleading tumor marker elevation can help to broaden the differential diagnosis and establish the most appropriate treatment. BioMed Central 2017-04-13 /pmc/articles/PMC5390376/ /pubmed/28407756 http://dx.doi.org/10.1186/s12885-017-3262-0 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
D’Ambrosio, Lorenzo
Palesandro, Erica
Moretti, Marina
Pelosi, Giuseppe
Fabbri, Alessandra
Carnevale Schianca, Fabrizio
Aglietta, Massimo
Grignani, Giovanni
Alpha–fetoprotein elevation in NUT midline carcinoma: a case report
title Alpha–fetoprotein elevation in NUT midline carcinoma: a case report
title_full Alpha–fetoprotein elevation in NUT midline carcinoma: a case report
title_fullStr Alpha–fetoprotein elevation in NUT midline carcinoma: a case report
title_full_unstemmed Alpha–fetoprotein elevation in NUT midline carcinoma: a case report
title_short Alpha–fetoprotein elevation in NUT midline carcinoma: a case report
title_sort alpha–fetoprotein elevation in nut midline carcinoma: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390376/
https://www.ncbi.nlm.nih.gov/pubmed/28407756
http://dx.doi.org/10.1186/s12885-017-3262-0
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