Case Report and Literature Review: Primary Pulmonary NUT-Midline Carcinoma.

Yunxiang Zhang,Guifeng Zhao,Xia Liu,Tianbao Li,Wei Li,Qian Hou,Li Li,Gengyin Zhou,Kai Han,Xiaotong Dong

doi:10.3389/fonc.2021.700781

Abstract

Nuclear protein of the testis (NUT) carcinoma is a very rare and aggressive carcinoma characterized by chromosomal rearrangement. NUT-midline carcinoma (NMC) can occur anywhere in the body, but most of the tumors are found in the midline anatomic structure or mediastinum. Pulmonary-originated NMC is extremely rare and often difficult to be distinguished from other poorly differentiated tumors, making the diagnosis awfully challenged in clinical practice. There are less than 100 cases of NUT carcinoma reported so far. In this study, the diagnosis and molecular mechanisms of reported NUT carcinoma cases were reviewed. Furthermore, a case of primary pulmonary NUT-midline carcinoma and its pathological features was reported. The process of pathological identification and genomic analysis for establishing the diagnosis was discussed. We found that NUT carcinoma could be identified by combining CT, H&E staining, immunohistochemistry (IHC), and molecular tests. The development of NUT carcinoma might be associated with mutation of MYC, p63, and MED24 genes and the Wnt, MAPK, and PI3K signaling pathways. Our study provided a detailed molecular mechanistic review on NMC and established a procedure to identify pulmonary NMC.

Highlights

Nuclear protein of the testis (NUT) carcinoma is a very rare and aggressive carcinoma characterized by chromosomal rearrangement
The tumor was located at the upper lobe of the right lung with a size of 6 × 5 cm
NUT-midline carcinoma (NMC) can occur at any age; it has more likely been seen in young adults and children with no significant gender difference

Summary

Introduction

Nuclear protein of the testis (NUT) carcinoma is a very rare and aggressive carcinoma characterized by chromosomal rearrangement. Sholl et al reported eight cases of primary pulmonary NMC and used NUT immunohistochemical screening. The result suggested that primary pulmonary NMC is rare, it has highly clinical, imaging, and pathological features [10]. A case previously misdiagnosed as Ewing’s sarcoma (ES) [11]/primitive neuroectodermal tumor (PNET) [12] was reported, which was later confirmed as NUT carcinoma by generation sequencing (NGS).

Results

Conclusion