Targeted gene expression profiling predicts meningioma outcomes and radiotherapy responses.
William C Chen et al. Nat Med 2023 11
From the abstract: "Using a discovery cohort of 173 meningiomas, we developed a 34-gene expression risk score and performed clinical and analytical validation of this biomarker on independent meningiomas from 12 institutions across 3 continents (N?=?1856), including 103 meningiomas from a prospective clinical trial. The gene expression biomarker improved discrimination of outcomes compared to all other systems tested (N?=?9) in the clinical validation cohort for local recurrence (5-year area under the curve [AUC] 0.81) and overall survival (5-year AUC 0.80). "
Machine learning for genetics-based classification and treatment response prediction in cancer of unknown primary.
Intae Moon et al. Nat Med 2023 8
Cancer of unknown primary (CUP) is a type of cancer that cannot be traced back to its primary site and accounts for 3–5% of all cancers. Established targeted therapies are lacking for CUP, leading to generally poor outcomes. We developed OncoNPC, a machine-learning classifier trained on targeted next-generation sequencing (NGS) data from 36,445 tumors across 22 cancer types from three institutions. Oncology NGS-based primary cancer-type classifier (OncoNPC) achieved a weighted F1 score of 0.942 for high confidence predictions (=0.9 ) on held-out tumor samples, which made up 65.2% of all the held-out samples
Universal genetic testing may improve risk stratification and treatment for rare and lethal cancer
L Ramsey, News Medical, July 27, 2023
Esophageal adenocarcinoma (EAC) is a highly lethal cancer, with a five-year survival rate of less than 20 percent. Although a precursor lesion to EAC, called Barrett's esophagus (BE), is present in roughly seven percent of middle-aged adults, less than one percent of BE patients will progress to EAC, making it difficult to determine which individuals are at risk of developing this deadly cancer. To better understand why only a small fraction of individuals with BE develop EAC, investigators used genomic databases to identify genetic drivers associated with EAC. The found that nine percent of EAC patients harbor mutations in cancer-predisposing genes, shedding light on the causes of progression to the disease and new possibilities for screening and treatment.
How the Y chromosome makes some cancers more deadly for men
H Ledford, Nature, June 21, 2023
Two studies address cancers that are particularly aggressive in men: colorectal cancer and bladder cancer. One study finds that the loss of the entire Y chromosome in some cells — which occurs naturally as men age — raises the risk of aggressive bladder cancer and could allow bladder tumours to evade detection by the immune system2. The other finds that a particular Y-chromosome gene in mice raises the risk of some colorectal cancers spreading to other parts of the body.