Publications by authors named "Atara Posner"
Genomics can inform both tissue-of-origin (TOO) and precision treatments for patients with cancer of unknown primary (CUP). Here, we use whole genome and transcriptome sequencing (WGTS) for 72 patients and show diagnostic superiority of WGTS over panel testing (386-523 genes) in 71 paired cases. WGTS detects all reportable DNA features found by panel as well as additional mutations of diagnostic or therapeutic relevance in 76% of cases.
View Article and Find Full Text PDFImmune and genomic biomarkers of immunotherapy response in cancer of unknown primary.
J Immunother Cancer
January 2023
Background: Cancer of unknown primary (CUP) is a heterogeneous group of metastatic cancers where a primary tissue of origin (TOO) is uncertain. Most patients with CUP have limited treatment options and poor survival outcomes. Immune checkpoint inhibitors (ICIs) can be efficacious in some patients with CUP, but the optimal predictive biomarkers are unknown.
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- Cancer of unknown primary (CUP) occurs when there's no identified source for cancer after standard testing, with gene expression profiling (GEP) and DNA sequencing being used to identify potential primary sites and treat accordingly.
- In a study of 215 CUP patients, 77% couldn't be confidently diagnosed, while 10% had a latent primary diagnosis, and 13% had enough evidence to support a likely diagnosis.
- The research found that GEP was more accurate (91.5%) in identifying solid tumors compared to DNA features, but GEP's effectiveness dropped to 13% for unresolved cases; however, DNA analysis provided supportive hints for 31% of those uncertain cases, focusing on lung and biliary cancers.
Merkel cell carcinomas (MCC) are immunogenic skin cancers associated with viral infection or UV mutagenesis. To study T-cell infiltrates in MCC, we analyzed 58 MCC lesions from 39 patients using multiplex-IHC/immunofluorescence (m-IHC/IF). CD4 or CD8 T cells comprised the majority of infiltrating T lymphocytes in most tumors.
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- - Cancer of unknown primary (CUP) accounts for 3-5% of cancers and is defined as metastatic cancers where the primary site remains unidentified, leading to poor survival outcomes for patients who are disadvantaged in treatment options.
- - Researchers developed an RNA-based diagnostic tool called CUP-AI-Dx using a 1D Inception convolutional neural network to identify the primary tissue origin of tumors, trained on extensive genetic data from various cancer types.
- - CUP-AI-Dx demonstrated high accuracy, achieving 98.54% in cross-validation and 96.70% on test datasets, confirming its potential to aid in diagnosing CUP and improving treatment strategies for affected patients.
Mutation of the key tumour suppressor p53 defines a transition in the progression towards aggressive and metastatic breast cancer (BC) with the poorest outcome. Specifically, the p53 mutation frequency exceeds 50% in triple-negative BC. Key regulators of mutant p53 that facilitate its oncogenic functions are potential therapeutic targets.
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