Clinical, Radiographic, Pathologic Characterization and Survival Outcomes of Nuclear Protein of the Testis Carcinoma

J Comput Assist Tomogr. 2021 May-Jun;45(3):431-441. doi: 10.1097/RCT.0000000000001163.

Abstract

Introduction: Nuclear protein of the testis (NUT) carcinoma (formerly NUT midline carcinoma) is an aggressive tumor with characteristic BRD4-NUTM1 translocation and a poor prognosis. The primary objective of this study was to describe the clinical and radiologic features, treatment response, and survival of NUT carcinoma (NC).

Materials and methods: This retrospective single-center study was based on the review of medical records of NC patients with a specific genetic rearrangement or positive anti-NUT nuclear staining. Overall survival (OS) was analyzed according to primary tumor location.

Results: This series of 22 patients had a mean age of 36.27 ± 2.68 years with 68% women and 32% men. The median age at diagnosis was 34 years (range, 17-55 years). The primary tumor was located in the chest (n = 12/22; 55%), head and neck (n = 9/22; 40%), and 1 patient had a renal tumor. About 68% (n = 15/22) patients presented with regional lymph nodal involvement and 77% (n = 17/22) had distant metastases. All the bone metastases were lytic (100%) with mixed lytic and sclerotic metastases in 5 patients. Only 18% (n = 4/22) of the patients showed response to treatment, with progression in the remaining 18 patients. The median OS was 7 months. The OS was significantly (P = 0.024) more in patients with primary head and neck NC (n = 9; OS, 16 months) versus those with pulmonary and other locations (n = 13; OS, 6 months).

Conclusions: Nuclear protein of the testis carcinoma is an aggressive disease refractory to conventional therapy. Imaging with the complementary use of computed tomography, magnetic resonance imaging, and positron emission tomography/computed tomography is important for staging, guiding management, assessing the treatment response, and surveillance.

MeSH terms

  • Adolescent
  • Adult
  • Bone Neoplasms / diagnostic imaging*
  • Bone Neoplasms / metabolism
  • Bone Neoplasms / mortality
  • Bone Neoplasms / secondary*
  • Carcinoma / diagnostic imaging*
  • Carcinoma / metabolism
  • Carcinoma / mortality
  • Female
  • Head and Neck Neoplasms / diagnostic imaging*
  • Head and Neck Neoplasms / metabolism
  • Head and Neck Neoplasms / mortality
  • Humans
  • Kidney Neoplasms / diagnostic imaging*
  • Kidney Neoplasms / metabolism
  • Kidney Neoplasms / mortality
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neoplasm Proteins / metabolism*
  • Nuclear Proteins / metabolism*
  • Positron-Emission Tomography
  • Prognosis
  • Retrospective Studies
  • Survival Analysis
  • Tomography, X-Ray Computed
  • Young Adult

Substances

  • NUTM1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins