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This Week in NEJM: Jun 16, 2011


In NEJM this week, researchers from the US and Europe present findings from a study looking at the underlying genetic causes of hair-cell leukemia. The researchers performed massively parallel whole-exome sequencing of leukemic and matched normal cells from the blood of a patient with hair-cell leukemia, and found five missense somatic clonal mutations, including a heterozygous mutation in the BRAF gene that results in the creation of the BRAF V600E protein. The same mutation was found in 47 other hair-cell leukemia patients who were evaluated with Sanger sequencing, but not in 195 patients with other peripheral B-cell lymphomas or leukemias, the authors write. "The BRAF V600E mutation was present in all patients with hair-cell leukemia who were evaluated. This finding may have implications for the pathogenesis, diagnosis, and targeted therapy of hair-cell leukemia," they add.

Also in NEJM this week, FDA researchers write about the risks and benefits of 5α-reductase inhibitors for the prevention of prostate cancer, an issue which continues to generate much debate in the medical and scientific communities. Two recent trials of 5α-reductase inhibitors finasteride and dutasteride have shown an overall relative reduction of 23 percent to 25 percent in prostate cancer diagnoses, however, the reductions were only observed in the incidence of low-grade prostate cancers, the authors write. "The conclusion drawn by the [FDA] advisory committee in December was that finasteride and dutasteride do not have a favorable risk–benefit profile for the proposed use of chemoprevention of prostate cancer in healthy men," they add. "The FDA agrees with this assessment."

The Scan

Guidelines for Ancient DNA Work

More than two dozen researchers have developed new ethical guidelines for conducting ancient DNA research, which they present in Nature.

And Cleared

A UK regulator has cleared former UK Prime Minister David Cameron in concerns he should have registered as a consultant-lobbyist for his work with Illumina, according to the Financial Times.

Suit Over Allegations

The Boston Globe reports that David Sabatini, who was placed on leave from MIT after allegations of sexual harassment, is suing his accuser, the Whitehead Institute, and the institute's director.

Nature Papers on Esophageal Cancer, Origin of Modern Horses, Exome Sequencing of UK Biobank Participants

In Nature this week: genetic and environmental influences of esophageal cancer, domestic horse origin traced to Western Eurasian steppes, and more.