NUT carcinoma – An aggressive thoracic tumor

Nuclear protein in testis (NUT) carcinoma is an extremely rare and undifferentiated malignancy characterized by the rearrangement of NUT gene (NUTM1, Nuclear Protein in Testis). NUT carcinoma is a challenging disease which is difficult to diagnose and treat. Due to its rarity, lack of experience and...

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Bibliographic Details
Published in:The American journal of the medical sciences 2023-07, Vol.366 (1), p.64-70
Main Authors: Ribeiro, Joana Arana, Sousa, Jéssica, Jesus, Filipa, Almeida, Élin, Costa, João Fernandes, Reis, Madalena, Gomes, Rita Matos
Format: Article
Language:English
Subjects:
Carcinoma - diagnosis
Carcinoma - genetics
Child
Humans
Male
Neck - pathology
Neoplasm Proteins - genetics
Nuclear Protein in Testis
Nuclear Proteins - genetics
Nuclear Proteins - metabolism
NUT Carcinoma
NUTM1 gene
Thoracic Neoplasms - diagnosis
Thoracic Neoplasms - genetics
Young Adult
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Description
Summary:Nuclear protein in testis (NUT) carcinoma is an extremely rare and undifferentiated malignancy characterized by the rearrangement of NUT gene (NUTM1, Nuclear Protein in Testis). NUT carcinoma is a challenging disease which is difficult to diagnose and treat. Due to its rarity, lack of experience and need of specific molecular study it can be un/misdiagnosed. Therefore, NUT carcinoma should be included in differential diagnosis of poorly differentiated/undifferentiated and rapidly progressive malignancy in children and young adults, occurring in the head, neck or thorax. We report a case of NUT carcinoma presented with pleural effusion in adulthood.
ISSN:0002-9629
1538-2990
DOI:10.1016/j.amjms.2023.03.028