A Rare Case of a Malignant Proliferating Trichilemmal Tumor
Author Information
Author(s): Abdelhammed Mokhtar H., Siatecka Hanna, Diwan A. Hafeez, Finch Christie J., Haskins Angela D., Hernandez David J., Xu Ya
Primary Institution: Baylor College of Medicine
Hypothesis
What are the genetic alterations associated with malignant proliferating trichilemmal tumors (MPTTs)?
Conclusion
The study identified a TP53 mutation and HER2 amplification in a case of MPTT, suggesting potential therapeutic avenues.
Supporting Evidence
- The tumor demonstrated a diffuse membranous and cytoplasmic expression of CK17 and a diffuse nuclear expression of p53.
- Immunohistochemistry showed focal HER2 overexpression and patchy positivity for CD34.
- The molecular analysis revealed a TP53 mutation and amplifications in ERBB2 (HER2), BRD4, and TYMS.
Takeaway
This study is about a rare skin tumor that can be mistaken for other types of cancer, and it found some genetic changes that might help doctors treat it better.
Methodology
The case involved clinical presentation, histopathologic examination, immunohistochemistry, and molecular analysis using next-generation sequencing.
Limitations
The findings are based on a single case, limiting the generalizability of the conclusions.
Participant Demographics
The participant was a 64-year-old African American woman.
Digital Object Identifier (DOI)
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