Publications by authors named "J Laco"
Article Synopsis
- Adenoid cystic carcinomas (AdCC) of salivary gland origin are primarily defined by the presence of specific gene fusions, notably MYB::NFIB and MYBL1::NFIB, with sinonasal AdCC being particularly aggressive and lacking effective treatments.
- Researchers conducted an extensive analysis of 88 sinonasal AdCC cases using various techniques like NGS and FISH to identify gene fusions and mutations, finding that the majority harbored canonical fusions while some had noncanonical ones, with a few tumors showing no fusions at all.
- Mutational analysis revealed that about 68% of AdCCs tested (21 out of 31) had mutations in key oncogenes, highlighting potential areas for targeted
Article Synopsis
- About 95% of AGCT cases carry the FOXL2 p.C134W mutation, while TERT promoter alterations are associated with worse survival outcomes.
- This study analyzed 183 primary and 44 recurrent AGCTs, revealing potential prognostic implications of FOXO1 mutations and confirming high rates of FOXL2 mutations, while uncovering various other genetic mutations associated with AGCT recurrence.
TFE3 rearrangements characterize histogenetically, topographically, and biologically diverse neoplasms. Besides being a universal defining feature in alveolar soft part sarcoma (ASPS) and clear cell stromal tumor of the lung, TFE3 fusions have been reported in subsets of renal cell carcinoma, perivascular epithelioid cell tumor (PEComa), epithelioid hemangioendothelioma and ossifying fibromyxoid tumors. TFE3 -related neoplasms are rare in the head and neck and may pose diagnostic challenges.
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- This study analyzes 37 ovarian Sertoli-Leydig cell tumors (SLCT) with a focus on their morphology, immunohistochemistry, and molecular features, categorizing them into well, moderately, and poorly differentiated tumors.
- High levels of sex cord markers were found, along with variable expression of other markers, and notable mutations like DICER1 (54.5%) and FOXL2 (6%) were identified, suggesting important diagnostic and predictive implications.
- Differences in mRNA expression profiles between DICER1 and non-DICER1 tumors highlight the distinct molecular characteristics of SLCTs, indicating that well-differentiated tumors could represent a unique subtype apart from the others.
Article Synopsis
- This report presents the first documented case of a giant cell tumor in the larynx, diagnosed through molecular genetic analysis.
- A 50-year-old non-smoking male experienced persistent hoarseness for 3 months, and imaging revealed a sizable tumor on his thyroid cartilage, leading to a total laryngectomy.
- Detailed microscopic analysis showed a mix of mononuclear cells and osteoclast-like giant cells, with molecular testing identifying a significant mutation in the H3-3A gene.