ABSTRACT
Objective:To assess the clinical and imaging features of NUT gene-related sinonasal carcinomas (NUT midline carcinome).Methods:The clinical data and pretreatment imaging findings of 5 cases with pathologically proven NUT sinonasal carcinomas were analyzed retrospectively in Beijing Tongren Hospital, Capital Medical University from January 2016 to December 2020. Of 5 cases, the tumors affected 4 females and 1 male with an age range of 15 to 48 years (median 19 years). Clinical data of all cases were available before surgery with both CT and MR examination. Tumor location, CT density, boney change, calcification, tumor size, T 1WI, T 2WI and diffusion weighted imaging (DWI) signal intensity, appearance diffusion coefficient (ADC), type of time intensity curve (TIC) of dynamic contrast-enhanced (DCE)-MRI were evaluated. Results:All five cases belonged to T4 stage of the clinic TNM system. The locations were nasal cavity ethmoid, sphenoid and maxillary sinus ( n=1), nasal and maxillary sinus ( n=1), nasal cavity and ethmoid sinus ( n=3). Iso-attenuated in 3 cases, heterogeneous with local necrosis in 2 cases, and heterogeneous with calcification in 3 cases on CT imaging. Bone erosion was found in 4 cases, and bone erosion with destruction in 1 case. The tumor sizes ranged from 4.2 to 4.9 cm (median 4.5 cm) on MR axial imaging. On T 1WI, 5 cases showed isointense compared with adjacent temporal muscles, with focal hypointense in 2 cases. On T 2WI, the tumor was graded as isointense in 3 cases, and hyperintense in 2 cases. Heterogeneous enhancement in all cases with mild in 3 cases, and moderate in 2 cases on postcontrast MR imaging. On DCE-MRI of 5 cases, there were 3 cases of type Ⅲ (washout-shaped curves), and 2 cases of type Ⅱ of the TIC (plateau-shaped curves). The range of ADC values was from 0.63×10 -3 to 1.17×10 -3 mm 2/s, and median ADC value was 0.84×10 -3 mm 2/s, of 5 cases with varying degrees of high signal on DWI. The Ki-67 index ranged from 30% to 80% of the tumor. An immunohistochemical study showed that the tumor cells of 5 cases were all positive for both NUT and INI-1 genes. One case was performed with biopsy and followed by chemotherapy, four cases were performed with surgery, combined with the following chemotherapy, and one also was implemented with radiation therapy. The follow-up time was 7-16 months. Five cases were all alive during the follow-up. Conclusions:The NUT midline sinonasal tract carcinoma is a rare, gene-related solid malignant tumor. The tumor is more commonly seen in young patients, mostly centered in the nasal and ethmoid region with invasive growth, more calcification on CT, and heterogeneous enhancement on MRI. These findings are some characteristics of the tumor.
ABSTRACT
Nuclear protein in testis (NUT) midline carcinoma is poorly differentiated carcinoma defined by rearrangement of NUT gene on 15 to other genes, usually BRD4 on 19. It is first described in 1991. These tumors are most commonly seen in the mediastinum and 35% occur in head and neck. It is a highly aggressive tumor with a median survival of 7 months because of ineffective chemotherapy and undefined treatment. Hence, we must differentiate these tumors from other poorly differentiated tumors. Here, we present a case of NUT midline carcinoma of 44-year male, who presented with headache and dizziness, confirmed by immunohistochemistry of NUT antibody. The aim of this case report is to increase the awareness about this entity in adults with brief review of relevant literature.
ABSTRACT
NUT-midline carcinoma is a rare and very aggressive tumor, with fast progression and poor prognosis. It should be suspected in poorly differentiated tumors, especially if located in midline structures of the head, neck, and thorax. It is characterized by gene translocation of nuclear protein in testis (NUT) gene from chromosome 15, most frequently to bromodomain containing protein 4 (BDR4) gene on chromosome 19. We present a case of mediastinal NUT-midline carcinoma in 11-year old boy.CT revealed a large mediastinal mass on the right side, with elevated serum alpha-fetoprotein (AFP), neuron-specic enolase (NSE), ferritin and lactate dehydrogenase (LDH). The patient was treated with chemotherapy, but the progression of disease was rapid, and he died within four months after the onset of disease.
ABSTRACT
Cytologic diagnosis of nuclear protein in testis (NUT) midline carcinoma (NMC) is important due to its aggressive behavior and miserable prognosis. Early diagnosis of NMC can facilitate proper management, and here we report two rare cases of thoracic NMC with cytohistologic correlation. In aspiration cytology, the tumor presented with mixed cohesive clusters and dispersed single cells, diffuse background necrosis and many neutrophils. Most of the tumor cells had scanty cytoplasm and medium-sized irregular nuclei, which had fine to granular nuclear chromatin. Interestingly, a few dyskeratotic cells or squamoid cell clusters were present in each case. Biopsy specimen histology revealed more frequent squamous differentiation, and additional immunohistochemistry tests showed nuclear expression of NUT. Because this tumor has a notorious progression and has been previously underestimated in terms of its prevalence, awareness of characteristic findings and proper ancillary tests should be considered in all suspicious cases.
Subject(s)
Biopsy , Chromatin , Cytoplasm , Diagnosis , Early Diagnosis , Immunohistochemistry , Lung , Necrosis , Neutrophils , Nuclear Proteins , Nuts , Prevalence , Prognosis , TestisABSTRACT
Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare and aggressive tumor that is genetically characterized by chromosomal rearrangement of the NUT gene. NMC predominantly involves the midline structures of the body and the sinonasal tract is considered a preferential site. While the optimal management of NMC is unclear, more than 80% of patients will die within one year of their diagnosis despite intensive treatment. We report two cases of NMC of the sinonasal tract. Histopathologic results of the punch biopsy showed undifferentiated and poorly differentiated carcinoma. NUT immunohistochemical staining results were positive. Multimodal treatments including surgery, radiotherapy, and chemotherapy were performed. We also present a literature review to compare with the present cases. In our cases, we emphasize the importance of the early diagnosis and intensive treatment of NMC.