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This Week in NEJM: Feb 17, 2011


In NEJM this week, an international team of researchers publish their findings on the effect of NFKBIA deletion in glioblastomas. The researchers speculate that deletion of NFKBIA, which inhibits the epidermal growth factor receptor oncogene signaling pathway, would promote tumorigenesis in glioblastomas that don't have EGFR alterations. The team analyzed 790 glioblastomas for changes in both NFKBIA and EGFR, and found that "deletion of NFKBIA and amplification of EGFR show a pattern of mutual exclusivity." Furthermore, the team adds, "restoration of the expression of NFKBIA attenuated the malignant phenotype and increased the vulnerability to chemotherapy of cells cultured from tumors with NFKBIA deletion." Deletion of NFKBIA is associated with short survival rates for glioblastoma, they say.

Also in NEJM this week, clinicians at Massachusetts General Hospital report on the case of a 65-year-old man who presented with hematuria after treatment for prostate cancer. The patient, whose case was discussed at the Genitourinary Oncology Conference, had a localized, small-volume prostate cancer, and underwent brachytherapy. Hematuria developed 10 years later, and the patient was diagnosed with adinocarcinoma. This case presents several issues, says Donald Kaufman, one of the clinicians on the case, "First, what were the options for treatment of the prostate cancer? Second, what is the origin of the new cancer — is it recurrent prostate cancer or a new adenocarcinoma of the bladder, urethra, or colon? If it is a new cancer, is it radiation-induced? And finally, what is the appropriate management of the current cancer?"

And published online in NEJM this week, three FDA members present their perspective on the development of novel combination-drug therapies. Successful development of combination therapies is important for treating multiple diseases, including cancer, they write. Concern has been expressed that FDA regulations, such as the ones concerning fixed-dose combinations, could inhibit that innovation, but the FDA has drafted guidance about testing more than one novel agent in a single program in order to address those concerns, they add. Drugmakers also have to do their part, the regulators say, to innovate and work alongside the FDA to develop these therapies.

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.