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This Week in the Medical Journals: Jun 15, 2012


In JAMA this week, US researchers report a systematic review of the benefits and harms of CT screening for lung cancer. The team reviewed the available literature and found evidence in one large study of 53,454 patients that suggests that CT screening results in significantly fewer lung cancer deaths. About 20 percent of individuals screened had positive results requiring some follow-up, and about 1 percent of individual had lung cancer, the team says. "There was marked heterogeneity in this finding and in the frequency of follow-up investigations, biopsies, and percentage of surgical procedures performed in patients with benign lesions," the authors add. "Major complications in those with benign conditions were rare." This suggests that CT screening may benefit patients who are at high risk for lung cancer.

In Lancet Oncology this week, an international team of researchers reports a genomic analysis of markers for survival and metastatic potential in childhood central nervous system primitive neuro-ectodermal brain tumors. The team obtained 142 primary hemispheric CNS PNET samples, and examined the transcriptomes of 51 samples, and copy-number profiles of 77 samples. Using clustering, gene, and pathway enrichment analyses to identify tumor subgroups and group-specific molecular markers, the team identified three molecular subgroups of CNS PNETs that were distinguished by "primitive neural, oligoneural, and mesenchymal lineage gene-expression signatures with differential expression of cell-lineage markers LIN28 and OLIG2." Patients with neural tumors were most often female, young, and had poor survival, while patients with mesenchymal tumors had the highest incidence of metastasis at diagnosis. "LIN28 and OLIG2 are promising diagnostic and prognostic molecular markers for CNS PNET that warrant further assessment in prospective clinical trials," the authors add.

And in NEJM this week, the University of Maryland's Edward Sausville writes in an editorial that MEK inhibitors like trametinib show promise for patients with RAF-mutated tumors. In a recent study published in NEJM, researchers showed that trametinib decreased the rate of tumor progression in patients with BRAF-mutated melanoma. "Studies are being conducted to determine how other MEK inhibitors will fare in other types of tumors with mutations in RAS, RAF, MEK, and ERK," Sausville says. "It is hoped that many agents affecting MEK will be useful to these patients. If this hypothesis holds true, we will again have an illustration that careful strategic thinking in matching a new oncology drug to a molecularly defined target population is necessary to get the most expeditious and obvious evidence of value."

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.