This neoplasm showed typical morphology with nests of tumor cells with cribriform and papillary architecture and a classic immunohistochemical profile with tumor cells positive for S100 and p63 while negative for p40. Molecular studies showed a NAP1L1::PRKD1 fusion, which has not been previously detected in cribriform adenocarcinoma.
5 days ago
Journal
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TP63 (Tumor protein 63) • NAP1L1 (Nucleosome Assembly Protein 1 Like 1) • PRKD1 (Protein Kinase D1)
These findings demonstrate that BBI608 effectively inhibits MEC cell proliferation in vitro by inducing Mcl-1-dependent apoptosis. This suggests BBI608 warrants further investigation as a potential therapeutic agent for MEC.
Moreover, MAML2-fused cases might be confused with variant or high-grade mucoepidermoid carcinomas, as they share squamous phenotype and MAML2 rearrangements. The biology of bland cases and their nosology (benign vs low-grade malignant) remain to be further characterized.
8 days ago
Journal
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YAP1 (Yes associated protein 1) • WWTR1 (WW Domain Containing Transcription Regulator 1) • NUTM1 (NUT Midline Carcinoma Family Member 1) • MAML2 (Mastermind Like Transcriptional Coactivator 2)
CSG is a rare benign tumor that predominantly affects the parotid gland in female patients, typically presenting as a multicystic lesion. Surgical excision remains the treatment of choice, with a generally favorable prognosis.
Detailed, systematic histopathological and immunohistochemical (IHC) assessment for validation and confirmatory diagnosis is imperative. An added evaluation for tumour outcome with affirmative markers (DOG1), proliferative markers (Ki67), add value in diagnosis and prognostication of this tumour.
Surgical resection is the main treatment, and diagnosis requires confirmation through histopathology, immunohistochemistry, and special staining. CRTC1-MAML2 fusion can also assist in diagnosis.
BCA is a very rare tumor of the lacrimal gland, but complete resection is the effective treatment. Postoperative follow-up is necessary due to the possibility of malignant transformation.
Recognition of LG-TNBCs is essential to prevent overtreatment and guide personalized patient management. Molecular characterization provides diagnostic confirmation and therapeutic opportunities, particularly for NTRK-fusion-positive tumors treatable with targeted inhibitors, highlighting the importance of precision medicine in rare breast tumors.
Fluorescence in situ hybridization revealed MAML2 rearrangement with RNASeq confirming a YAP1::MAML2 fusion product. This case highlights a novel salivary gland malignancy type arising from lymphadenoma, for which molecular testing was critical in establishing primary origin, and thus excluding the more common metastatic squamous cell carcinoma.
There are high demands placed on pathologists for accurate intraoperative frozen section diagnoses, which can be challenging. This summary of two NSL cases and a literature review may aid in the clinical recognition of NSL and improve the accurate diagnosis of this benign tumor.