Abstract
Nuclear protein in testis midline carcinoma (NMC) is an extremely aggressive subtype of squamous cell carcinoma characterized by chromosomal rearrangements of the nuclear protein in testis (NUT) gene. NMC predominantly arises in the anatomical midline locations of the body, with a high occurrence in the thoracic, head and neck regions. However, NMC remains a rarely reported disease, making its inclusion in the initial differential diagnosis challenging. This case involves a 4-year-old boy who presented with a neck mass initially diagnosed as a poorly differentiated carcinoma originating from the larynx with the cervical Lymph node metastasis. However, further tests confirmed the diagnosis of NUT midline carcinoma. This case highlights the importance of conducting NUT immunohistochemistry in cases of squamous cell carcinoma and undifferentiated carcinoma occurring in the head and neck, as it can provide meaningful insights for diagnosis and treatment decisions.
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