NUT Midline Carcinoma of the Sublingual Gland: Clinical Presentation and Review

Abstract

NUT midline carcinoma (NMC) is a rare and aggressive disease encountered in the midline of the head and neck or mediastinum. Due to its sparse incidence and subtle pathologic features, we aim to increase knowledge and awareness for this pathologic entity. We present an exemplary case of a young, healthy male presenting with oral cavity pain and cervical lymphadenopathy. This patient was initially diagnosed with an unspecified, highly aggressive sublingual gland malignancy and underwent locoregional resection with free flap reconstruction however suffered a rapid local recurrence and widely extensive metastasis within just 1 month. After rigorous analysis, final pathologic diagnosis revealed a poorly differentiated carcinoma with evidence of squamous differentiation that eventually, post-mortem tested positive for NMC. Only one prior case of sublingual gland NMC has been previously reported as we discuss the literature regarding all sublingual gland malignancies as well as the pathologic features and treatment options for NMC. We recommend consideration of testing for the NUT proto-oncogene at the time of biopsy in the clinical setting of a poorly differentiated midline carcinoma, especially with squamous differentiation, of the head or neck in order to identify patients for clinical trial enrollment and appropriately counsel on the poor clinical prognosis. Improving clinician awareness is critical to increase diagnostic accuracy and need to study prospective treatment outcomes as the first step toward improving management of this difficult disease.

SMARCB1 (INI‐1) and NUT immunoexpression in a large series of head and neck carcinomas in a Brazilian reference center

“…In this latter, the nasal cavity and paranasal sinuses are commonly involved; however, there are also cases described in the orbital region, nasopharynx, larynx, epiglottis, major salivary glands, and oropharynx. 11,12,[26][27][28] To date, the most comprehensive reviews involved 63 NUT carcinomas establishing a clinical database, 29 as well as a meta-analysis of 32 NUT carcinomas. 30 A recent study showed that NUT carcinoma represents about 10% of poorly differentiated/undifferentiated carcinomas in the sinonasal region.…”

NUT Midline Carcinoma: A Series of Five Cases, Including One with Unusual Clinical Course

“…NMC is a rare neoplasm, the awareness of which is imperative for pathologists to identify cases in which NUT IHC should be ordered. NUT IHC should be performed in all cases of a poorly differentiated carcinoma, particularly Increasing awareness of NMC brings new sites and facts about this tumor into the literature [8,9]. We report a series of head and neck NMCs diagnosed using NUT IHC at our institute, including one case arising in the lacrimal fossa, which has been described in only a single case report previously [10].…”

Primary renal NUT carcinoma identified by next-generation sequencing: A case report and literature review

“…This results in the attenuation of abnormal transcription and induces tumor cell differentiation. However, oral BET inhibitors may not be effective for patients without BRD-NUTM1 fusions [16].…”