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NUT midline carcinomas in the thymic region.

Yesim Gökmen-Polar1, Oscar D Cano1, Kenneth A Kesler2

  • 1Departments of Pathology and Laboratory Medicine, Indiana University School of Medicine and Indiana University Simon Cancer Center, Indianapolis, IN, USA.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|May 24, 2014
PubMed
Summary

NUT midline carcinomas (NMCs) are rare, aggressive tumors. This study identifies mixed undifferentiated and squamous cell carcinomas in the thymic region that resemble NMCs, suggesting they are not uncommon and may respond to novel therapies.

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Area of Science:

  • Oncology
  • Pathology
  • Thoracic Surgery

Background:

  • NUT midline carcinomas (NMCs) are rare, aggressive neoplasms, primarily affecting pediatric patients.
  • Two recent cases of NMCs in the thymic region prompted further investigation into their incidence and characteristics.

Purpose of the Study:

  • To determine the incidence of NMC-like tumors in thymic carcinomas.
  • To characterize the histology, clinical presentation, and outcomes of these tumors.
  • To assess the utility of NUTM1 protein expression in diagnosis.

Main Methods:

  • Histological review of 110 thymic carcinomas for features associated with NUT carcinomas.
  • Immunohistochemistry for NUTM1 expression on 35 thymic carcinoma cases.
  • Analysis of clinical presentation, symptoms, and patient outcomes.

Main Results:

  • Ten cases of mixed small cell undifferentiated squamous cell carcinoma were identified.
  • These tumors predominantly presented with advanced disease, respiratory symptoms, or chest pain, with four cases exhibiting paraneoplastic syndromes.
  • NUTM1 expression was detected in 2 of 3 tumors with these features, and in none of the 32 without.
  • The majority of patients died or developed metastases within 3 years.

Conclusions:

  • Mixed small cell undifferentiated carcinomas of the thymic region share histological and immunohistochemical similarities with NMCs.
  • These tumors have an aggressive clinical course and are not rare.
  • They should be considered in the differential diagnosis of thymic region carcinomas, as potential novel therapies may exist.