Publications by authors named "M L Jullie"
Article Synopsis
- - Naevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic condition caused by mutations in the Sonic Hedgehog (SHH) pathway, leading to early development of multiple basal cell carcinomas (BCCs) and related skin tumors like basaloid follicular hamartoma (BFH).
- - A study analyzed 140 skin tumors from NBCCS patients and 140 control BCC tumors to compare their morphological characteristics, finding that BFH was exclusively present in NBCCS patients and had distinct histopathological features.
- - The research indicates that BFH could represent precursors to BCC, as it was identified in up to 24% of the tumors in NBCCS patients, with possible
Article Synopsis
- The study investigates 16 primary cutaneous carcinomas with mutations in genes that activate the Wnt/β-catenin pathway, noting that these tumors lack matrical differentiation, which is typically associated with such mutations.
- The tumors predominantly affected elderly patients, with a median age of 80, and were mainly located on the head, neck, and upper limbs, leading to metastatic cases in some patients.
- Key findings include poor differentiation in tumor structure, distinct immunohistochemical profiles, and recurrent mutations in APC and CTNNB1, indicating that these tumors represent a unique group apart from other established skin tumor types.
Histopathology
October 2024
Article Synopsis
- Porocarcinoma is a malignant sweat gland tumor that can develop from benign poromas, and recent studies have identified specific genetic fusions like PAK1/2/3 in some cases.
- In a study of 12 porocarcinoma patients, most were older males with tumors located on various parts of the body, and some patients developed distant metastases.
- The research indicates that PAK1/2/3 fusions might drive cancer development in porocarcinomas that do not have YAP1 rearrangements, highlighting a potential target for treatment.
Article Synopsis
- Cutaneous mixed tumors are categorized into apocrine and eccrine types, with apocrine tumors commonly featuring a unique plasmacytoid myoepithelial component, particularly in hyaline cell-rich types.
- This study analyzed 41 cases, revealing that apocrine tumors frequently exhibited PLAG1 and HMGA2 fusions, while eccrine tumors showed distinct SOX10 internal duplications through RNA sequencing.
- Clustering analysis highlighted the genetic differences across tumor types, confirming a unique profile for eccrine mixed tumors and establishing relationships among various tumor types, contributing to a deeper understanding of their molecular characteristics.
