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This Week in JAMA: Mar 28, 2012

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In JAMA this week, a team of European researchers led by Heikki Joensuu present a study comparing the efficacy of adjuvant imatinib treatment for operable gastrointestinal stromal tumors when administered for one year versus three years. The team administered imatinib to 400 patients with KIT mutation-positive gastrointestinal stromal tumors, who had a high chance of recurrence, for either 12 months or 36 months following surgery. They found that patients taking imatinib for 36 months had longer recurrence-free survival than patients in the 12-month group — 65.6 percent versus 47.9 percent at five years. The patients in the 36-month group also had better overall survival than patients in the 12-month group, the authors write — 92 percent versus 81.7 percent.

In a related editorial in JAMA this week, the University of British Columbia's Charles Blanke says that the administration of drugs to cancer patients after complete resection of their solid tumors has been a proven way to improve survival outcomes. This new study raises interesting questions about the optimal length of time for such post-surgery treatment, particularly has nearly a quarter of the patients in the 36-month group discontinued the trial for reasons other than GIST recurrence, Blanke says. "Were even low-grade toxicities difficult to endure for such a long period of time? Can this be attributed to unwillingness of asymptomatic patients to be adherent with a daily pill?" he asks. "The most important questions raised by the adjuvant imatinib trial reported by Joensuu et al involve the curability of patients with GISTs and the related issue of determining the ideal duration of postoperative therapy."

Also in JAMA this week, the journal's Mike Mitka reports that cancer experts are recommending that palliative care options be introduced to cancer patients at the time of diagnosis. This may improve quality of life and allow patients to live longer, he says, adding that this is part of "a movement to recognize more realistic scenarios that follow a cancer diagnosis." Johns Hopkins Medical Institutions' Thomas Smith says that the evidence on palliative care concurrent with oncology shows that it "equal survival, better symptom control, better outcomes for surviving relatives, and lower costs."

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.