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p63-negative thoracic NUT carcinoma - A potential diagnostic pitfall.

K R Anila1, S M Kaviya1, T Priyakumari2

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Indian Journal of Pathology & Microbiology
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Summary

NUT carcinoma, a rare aggressive cancer, is defined by NUTM1 gene rearrangement. This report highlights a unique case of p63-negative thoracic NUT carcinoma, a potential diagnostic challenge.

Keywords:
NUT carcinomap63-negativethorax

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Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • NUT carcinoma is a rare, aggressive undifferentiated carcinoma defined by NUTM1 gene rearrangement, formerly known as NUT midline carcinoma.
  • While previously thought to affect primarily children and young adults, it can occur in individuals of any age and gender.
  • It is classified under thoracic tumors in the 2015 WHO classification and can be challenging to diagnose, often requiring immunohistochemistry (IHC) or molecular studies.

Purpose of the Study:

  • To present a unique case of p63-negative thoracic NUT carcinoma.
  • To emphasize the potential diagnostic pitfalls associated with p63-negative cases.
  • To contribute to the understanding of NUT carcinoma variations.

Main Methods:

  • Case report presentation.
  • Review of diagnostic criteria for NUT carcinoma.
  • Discussion of immunohistochemistry (IHC) and molecular diagnostic techniques.

Main Results:

  • A unique case of thoracic NUT carcinoma that was negative for p63 IHC staining was identified.
  • This case highlights that NUT carcinoma can be p63-negative, particularly in the thoracic region.
  • Standard diagnostic markers may lead to misdiagnosis in such rare instances.

Conclusions:

  • p63-negative NUT carcinoma, especially in the thoracic region, represents a diagnostic challenge.
  • Immunohistochemistry and molecular studies are crucial for accurate diagnosis.
  • Awareness of atypical presentations like p63-negative NUT carcinoma is essential for effective patient management.