Clinicopathological Analysis of Five Cases of NUT Midline Carcinoma, including One with the Gingiva

Luting Zhou,Chaofu Wang,Jun Zhou,Jiankun Xu,Xiang Yong

doi:10.1155/2020/9791208

Luting Zhou, Chaofu Wang + Show 3 more

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https://doi.org/10.1155/2020/9791208

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Abstract

Aims NUT midline carcinoma (NMC) is a rare, poorly differentiated carcinoma defined by the presence of NUT gene rearrangement. In order to better understand the diagnostic and clinicopathologic features of this disease as they pertain to clinical practice, we have herein compiled findings pertaining to 5 cases of NMC at our institution. Methods Clinicopathological findings from 5 NMC cases were retrospectively reviewed, with histologic findings being reassessed and summarized accordingly. Tumor samples in the present study had been stained for markers including NUT, P63, P40, TTF-1, keratin, CK7, Syn, CD56, CgA, CD34, CD117, EGFR, and Ki-67. All cases were subjected to both fluorescence in situ hybridization (FISH) and followed up. Results Of these 5 NMC cases, 2 were males and 3 were females, with ages ranging from 26 to 69 years. A total of 2 cases localized to the lung, 1 to the larynx, 1 to the maxillary gingiva, and 1 to the orbital cavity. Upon microscopic assessment, these tumors appeared as clusters of small rounded cells with interstitial neutrophil infiltration. Squamous epithelial differentiation varied between samples. NUT staining revealed strong diffuse nuclear staining in tumor cells, and FISH confirmed the presence of NUT gene translocation in these samples. Conclusions NMC is a form of highly invasive cancer that can manifest in a number of tissues including the gingiva. NMC tumors have a fairly well-defined pathological morphology, and both immunohistochemistry and FISH are valuable for NMC diagnosis.

Highlights

NUT midline carcinoma (NMC), known as t(15; 19) carcinoma, is a form of rare, aggressive, poorly differentiated cancer that is defined by the presence of a gene rearrangement in the NUT gene, which encodes a nuclear protein normally expressed in the testes
Under 1000 total NMC cases have been reported, with the first report coming from Kubonishi et al in 1991 [1], who detected a thymic carcinoma with a novel t(15; 19) (q15; p13) chromosomal abnormality
While NMC tumors most often arise in the midline regions in or near the upper airway such as the head, neck, and thorax, they have been detected in sights including the lungs, salivary glands, pancreas, bladder, kidneys, soft tissues, and bones [4,5,6,7]

Summary

Introduction

NUT midline carcinoma (NMC), known as t(15; 19) carcinoma, is a form of rare, aggressive, poorly differentiated cancer that is defined by the presence of a gene rearrangement in the NUT gene, which encodes a nuclear protein normally expressed in the testes. French et al helped to define NMC as a distinct clinicopathological entity [2, 3]. While NMC tumors most often arise in the midline regions in or near the upper airway such as the head, neck, and thorax, they have been detected in sights including the lungs, salivary glands, pancreas, bladder, kidneys, soft tissues, and bones [4,5,6,7]. NMC is extremely aggressive, with a median survival of 7 months, and no specific chemotherapy regimen has demonstrated efficacy in treating NMC [8]

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