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

Lorenzo D'Ambrosio, Erica Palesandro, Marina Moretti, Giuseppe Pelosi, Alessandra Fabbri, Fabrizio Carnevale Schianca, Massimo Aglietta, Giovanni Grignani

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)266
JournalBMC Cancer
Volume17
Issue number1
DOIs
Publication statusPublished - Apr 13 2017

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alpha-Fetoproteins
Nuclear Proteins
Testis
Carcinoma
Germ Cell and Embryonal Neoplasms
Differential Diagnosis
Superior Vena Cava Syndrome
Tumor Biomarkers
L-Lactate Dehydrogenase
Comorbidity
Liver Diseases
Squamous Cell Carcinoma
Neoplasms
Chronic Disease
Lymph Nodes
Immunohistochemistry
Neoplasm Metastasis
Biopsy

Keywords

  • Journal Article

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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.

In: BMC Cancer, Vol. 17, No. 1, 13.04.2017, p. 266.

Research output: Contribution to journalArticle

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AU - Fabbri, Alessandra

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AU - Aglietta, Massimo

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AB - 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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