title: Identification of mislabeled specimen by molecular methods: case report and review.
abstract: Specimen misidentification is a common cause of errors in surgical pathology. We report a case where bone-marrow biopsies from patients of different genders were mislabeled and molecular methods were applied to resolve the identity. A short tandem repeat (STR)-polymerase chain reaction-based assay, commonly used in paternity testing, was employed in an attempt to assign the correct identity to the specimens. However, the specimens had been processed by decalcification and the DNA yield was poor. One of the markers in the assay is the non-STR amelogenin locus that distinguishes the X and Y chromosomes. This amelogenin marker results in a product of low molecular weight, enabling unequivocal resolution of identity despite a poor DNA yield. The prevalence of errors in pathology due to specimen misidentifications is reviewed.
authors.affiliation: Department of Pathology, Stanford University Medical Center, Stanford, CA 94305, USA.
authors.forename: M Rajan
authors.initials: MR
authors.lastname: Mariappan
authors.forename: James
authors.initials: J
authors.lastname: Zehnder
authors.forename: Daniel A
authors.initials: DA
authors.lastname: Arber
authors.forename: Marla
authors.initials: M
authors.lastname: Lay
authors.forename: Oluwole
authors.initials: O
authors.lastname: Fadare
authors.forename: Iris
authors.initials: I
authors.lastname: Schrijver
mesh_terms: D001854:Bone Marrow Cells / Q000473:pathology; D004247:DNA / Q000032:analysis; D003951:Diagnostic Errors / Q000517:prevention & control*; D005260:Female; D005821:Genetic Techniques; D006801:Humans; D008297:Male; D010340:Pathology, Surgical / Q000379:methods*; D010355:Patient Identification Systems; D011996:Records; D013048:Specimen Handling / Q000379:methods*
chemical_list: D004247:DNA