A Rare Case of a Malignant Proliferating Trichilemmal Tumor: A Molecular Study Harboring Potential Therapeutic Significance and a Review of Literature DOI Creative Commons
Mokhtar H. Abdelhammed, Hanna Siatecka, A. Hafeez Diwan

et al.

Dermatopathology, Journal Year: 2024, Volume and Issue: 11(4), P. 354 - 363

Published: Dec. 10, 2024

Malignant proliferating trichilemmal tumors (MPTTs), arising from the external root sheath of hair follicles, are exceptionally rare, with limited documentation their genetic alterations. We present a case 64-year-old African American woman who initially presented gradually enlarging nodule on her posterior scalp. An initial biopsy at an outside hospital suggested metastatic adenocarcinoma or squamous cell carcinoma (SCC) uncertain origin. A subsequent wide local excision revealed 2.0 cm tumor demonstrating characteristic keratinization, characterized by abrupt transition nucleated epithelium to laminated keratinized layer, confirming MPTT. Immunohistochemistry demonstrated diffuse p53 expression, patchy CD 34 focal HER2 membranous and p16 staining (negative HPV ISH). molecular analysis identified TP53 mutation amplifications in ERBB2 (HER2), BRD4, TYMS. Additional gene mutations significance included HSPH1, ATM, PDCD1 (PD-1), BARD1, MSH3, LRP1B, KMT2C (MLL3), GNA11, RUNX1. Assessments for homologous recombination deficiency, PD-L1 rearrangement, altered splicing, DNA mismatch repair expression were negative. The confirmation (HER2) amplification MPTT through suggests potential therapeutic avenues involving anti-HER2 monoclonal antibodies. presence mutation, without concurrent typically observed SCC, significantly aided this differential diagnosis.

Language: Английский

Histone modifications in head and neck squamous cell carcinoma DOI Creative Commons
Wei Mao,

Baoxin Wang,

Ruofei Huang

et al.

Frontiers in Oncology, Journal Year: 2024, Volume and Issue: 14

Published: June 25, 2024

Head and neck cancer is the main cause of death worldwide, with squamous cell carcinoma (HNSCC) being second most frequent subtype. HNSCC poses significant health threats due to its high incidence poor prognosis, underscoring urgent need for advanced research. Histone modifications play a crucial role in regulation gene expression influencing various biological processes. In context HNSCC, aberrant histone are increasingly recognized as critical contributors development pathologic progression. This review demonstrates molecular mechanisms, by which such acetylation, methylation, phosphorylation, ubiquitination, impact pathogenesis HNSCC. The dysregulation histone-modifying enzymes, including acetyltransferases (HATs), deacetylases (HDACs), methyltransferases (HMTs), discussed altering chromatin structure Moreover, we will explore potential targeting therapeutic strategy, highlighting current preclinical clinical studies that investigate deacetylase inhibitors (HDIs) other epigenetic drugs, referring completed ongoing trials on those medications.

Language: Английский

Citations

2
The Development and Evaluation of a Novel Highly Selective PET Radiotracer for Targeting BET BD1 DOI Creative Commons
Yanli Wang,

Yongle Wang,

Yulong Xu

et al.

Pharmaceuticals, Journal Year: 2024, Volume and Issue: 17(10), P. 1289 - 1289

Published: Sept. 27, 2024

Small molecules that interfere with the interaction between acetylated protein tails and tandem bromodomains of BET (bromodomain extra-terminal) family proteins are pivotal in modulating immune/inflammatory neoplastic diseases. This study aimed to develop a novel PET imaging tracer, [

Language: Английский

Citations

0
A Rare Case of a Malignant Proliferating Trichilemmal Tumor: A Molecular Study Harboring Potential Therapeutic Significance and a Review of Literature DOI Creative Commons
Mokhtar H. Abdelhammed, Hanna Siatecka, A. Hafeez Diwan

et al.

Dermatopathology, Journal Year: 2024, Volume and Issue: 11(4), P. 354 - 363

Published: Dec. 10, 2024

Malignant proliferating trichilemmal tumors (MPTTs), arising from the external root sheath of hair follicles, are exceptionally rare, with limited documentation their genetic alterations. We present a case 64-year-old African American woman who initially presented gradually enlarging nodule on her posterior scalp. An initial biopsy at an outside hospital suggested metastatic adenocarcinoma or squamous cell carcinoma (SCC) uncertain origin. A subsequent wide local excision revealed 2.0 cm tumor demonstrating characteristic keratinization, characterized by abrupt transition nucleated epithelium to laminated keratinized layer, confirming MPTT. Immunohistochemistry demonstrated diffuse p53 expression, patchy CD 34 focal HER2 membranous and p16 staining (negative HPV ISH). molecular analysis identified TP53 mutation amplifications in ERBB2 (HER2), BRD4, TYMS. Additional gene mutations significance included HSPH1, ATM, PDCD1 (PD-1), BARD1, MSH3, LRP1B, KMT2C (MLL3), GNA11, RUNX1. Assessments for homologous recombination deficiency, PD-L1 rearrangement, altered splicing, DNA mismatch repair expression were negative. The confirmation (HER2) amplification MPTT through suggests potential therapeutic avenues involving anti-HER2 monoclonal antibodies. presence mutation, without concurrent typically observed SCC, significantly aided this differential diagnosis.

Language: Английский

Citations

0