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Alpha-fetoprotein elevation in NUT midline carcinoma: a case report.
Lorenzo D'Ambrosio1,2, Erica Palesandro1,2, Marina Moretti3
1Division of Medical Oncology, Candiolo Cancer Institute - FPO, IRCCS, Strada Provinciale 142 Km 3.95, 10060, Candiolo, TO, Italy.
BMC Cancer
|April 15, 2017
Summary
Nuclear protein in testis (NUT) midline carcinoma is an aggressive cancer. Elevated alpha-fetoprotein can mislead diagnosis, highlighting the need for NUT expression testing in poorly differentiated carcinomas.
Area of Science:
- Oncology
- Pathology
- Tumor Markers
Background:
- Nuclear protein in testis (NUT) midline carcinoma is a rare and aggressive squamous cell carcinoma.
- Elevated alpha-fetoprotein (AFP) is typically associated with liver disease or germ cell tumors, particularly in young men with mediastinal masses.
- NUT midline carcinoma is often under-recognized due to its rarity and aggressive nature.
Observation:
- A 22-year-old man presented with a large mediastinal mass, superior vena cava syndrome, and elevated AFP and lactate dehydrogenase.
- Initial suspicion was a germ cell tumor due to the clinical presentation and elevated AFP.
- Biopsy revealed a poorly differentiated, necrotic carcinoma, leading to a challenging differential diagnosis.
Findings:
- The final diagnosis was NUT midline carcinoma, a condition not typically associated with AFP elevation.
- AFP levels were observed to correlate with the disease progression in this case.
- Immunohistochemistry for NUT expression is crucial for diagnosing poorly differentiated carcinomas lacking glandular features.
Implications:
- Prompt and accurate diagnosis of NUT midline carcinoma is critical due to its aggressive nature and life-threatening potential.
- Awareness of potentially misleading tumor marker elevations, like AFP, is essential for broadening the differential diagnosis.
- Timely diagnosis facilitates the selection of the most appropriate treatment strategies for aggressive cancers.