Open AccessMidline Carcinoma with NUT Rearrangement
Author(s) -
Wein Richard O.,
Mosesso Kara
Publication year - 2012
Publication title -
otolaryngology–head and neck surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.232
H-Index - 121
eISSN - 1097-6817
pISSN - 0194-5998
DOI - 10.1177/0194599812451426a133
Subject(s) - medicine , differential diagnosis , dysphagia , carcinoma , biopsy , pathology , gene rearrangement , neck dissection , lymph node , dermatology , radiology , biology , biochemistry , gene
Objective 1) Report the clinicopathologic features of a rare, midline carcinoma. 2) Review the literature on NUT midline carcinoma and associated treatment protocols. Method Case report with review of the literature on NUT midline carcinoma. Results A 23‐year‐old Chinese man presented with a 10‐day history of enlarging nontender cervical lymphadenopathy, dysphagia, and dysarthria. Clinical examination demonstrated right tongue atrophy and a 6‐cm ipsilateral level III neck mass. CT of the neck with contrast revealed an infiltrating hypopharyngeal lesion and bilateral necrotic cervical lymphadenopathy. At microlaryngoscopy, the patient was noted to have a friable postcricoid mucosal lesion that on multiple biopsies revealed only necrosis. Cytogenetic analysis of a lymph node biopsy demonstrated chromosomal rearrangements consistent with a translocation between chromosomes 15 and 19, ie, t(15;19), resulting in the fusion oncogene BRD4‐NUT consistent with diagnosis of NUT midline carcinoma (NMC). NMC is a newly recognized entity identified by the presence of chromosomal rearrangements involving the nuclear protein in testis (NUT) gene on chromosome 15q14. The clinical course is rapid and fatal and to date there is not a well‐established treatment protocol. NMC is likely under‐diagnosed and should be considered within the differential diagnoses in all poorly differentiated and undifferentiated midline carcinomas, particularly in young adult, nonsmokers. The patient presented is currently under treatment. Conclusion Accurate and prompt diagnosis of this rapidly progressing carcinoma is crucial to improving prognosis and identifying effective treatment regimens.