Researchers in Barcelona, Spain, this week present an assessment of the feasibility of a "nanofluidic digital PCR array platform to detect and quantify KRAS mutations simultaneously in clinically relevant samples." Using Fluidigm's Digital Array Chip, the team examined two groups of patients — the first consisting of 27 patients with colorectal carcinomas, 14 with adenomas, and five controls; the second consisting of 42 patients with pancreatic carcinomas, four with adenocarcinomas of the ampulla, and six with chronic pancreatitis. In a Clinical Chemistry paper published online in advance this week, the researchers report having found that "digital PCR provides a robust, quantitative measure of the proportion of KRAS mutant alleles in routinely obtained samples."
Over in this week's issue, New York Presbyterian Hospital's Francesca Khani and Mikhail Roshal from Weill Cornell Medical College present a clinical case study in which a 24-year-old man who had been diagnosed with hemophilia early in life presented to the clinic for follow-up after a recent hospitalization for excessive bleeding, noting a history of prolonged bleeding, a previous upper GI bleed, excessive bruising, and chronic pain in his ankles and joints. Khani and Roshal add that "the patient's family history is noteworthy for consanguineous parents (first cousins) and a sister who also experienced excessive bleeding, although her diagnosis was uncertain." Taken with the patient's coagulation test results, the researchers deduced that he might have F5F8D — an autosomal recessive disorder that affects approximately 1 in 1,000,000 in the general population. "F5F8D is genetically distinct from isolated inherited deficiencies of factor VIII (hemophilia A) and factor V (parahemophilia)," the authors write in Clinical Chemistry, adding that "currently, mutations in either of two genes, LMAN1 and MCFD2, are believed to account for all cases of F5F8D."