Rare germline structural variants increase risk for pediatric solid tumors.

Pediatric solid tumors are rare malignancies that represent a leading cause of death by disease among children in developed countries. The early age-of-onset of these tumors suggests that germline genetic factors are involved, yet conventional germline testing for short coding variants in established predisposition genes only identifies pathogenic events in 10-15% of patients. Here, we examined the role of germline structural variants (SVs)-an underexplored form of germline variation-in pediatric extracranial solid tumors using germline genome sequencing of 1,766 affected children, their 943 unaffected relatives, and 6,665 adult controls.

Bilateral guaifenesin ureteral calculi.

We report on a patient with bilateral ureteral calculi composed of guaifenesin metabolite as determined by infrared spectroscopy. These stones may be associated with excessive guaifenesin intake related to the current popularity of ephedrine preparations.