viernes, 14 de abril de 2017

Alpha–fetoprotein elevation in NUT midline carcinoma: a case report | BMC Cancer | Full Text

Alpha–fetoprotein elevation in NUT midline carcinoma: a case report | BMC Cancer | Full Text

Biomed Central

BMC Cancer

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 and
  • Giovanni GrignaniEmail authorView ORCID ID profile
BMC Cancer201717:266
DOI: 10.1186/s12885-017-3262-0
Received: 21 September 2016
Accepted: 4 April 2017
Published: 13 April 2017



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.


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.


NUT midline carcinoma Mediastinal mass Alpha–fetoprotein Case report

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