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

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.

• Authors: Lorenzo D'Ambrosio, Erica Palesandro, Marina Moretti, Giuseppe Pelosi, Alessandra Fabbri, Fabrizio Carnevale Schianca, Massimo Aglietta, Giovanni Grignani
• Journal: BMC cancer (BMC Cancer) Vol. 17 Issue 1 Pg. 266 (Apr 13 2017) ISSN: 1471-2407 [Electronic] England
• PMID: 28407756 (Publication Type: Case Reports, Journal Article)

Chemical References

• NUTM1 protein, human
• Neoplasm Proteins
• Nuclear Proteins
• Oncogene Proteins
• alpha-Fetoproteins

Topics

• Carcinoma, Squamous Cell (diagnosis, metabolism)
• Diagnosis, Differential
• Humans
• Lymphatic Metastasis
• Male
• Mediastinal Neoplasms (diagnosis, metabolism)
• Neoplasm Proteins
• Nuclear Proteins
• Oncogene Proteins
• Young Adult
• alpha-Fetoproteins (metabolism)