title: Avoiding pitfalls in bone marrow engraftment analysis: a case study highlighting the weakness of using buccal cells for determining a patient's constitutional genotype after hematopoietic stem cell transplantation.
abstract: OBJECTIVE
  An accurate and reliable assessment of bone marrow engraftment (BME) after hematopoietic stem cell transplantation (HSCT) is based on the ability to distinguish between recipient and donor cells at selected polymorphic short tandem repeat (STR) DNA loci. Buccal cells are an important source of DNA for determining the recipient's constitutional genotype, particularly in patients transplanted before the STR evaluation.
  
  
  METHODS
  Genomic DNA was extracted from the recipient buccal cells and from isolated CD3+ (T-cell lymphocyte) and CD33+ (myelocyte) cells after HSCT. BME analysis was performed using a STR-based polymerase chain reaction amplification method followed by fragment-size analysis for assessing the recipient-derived or donor-derived composition of cell lineage-specific peripheral blood DNA.
  
  
  RESULTS
  We identified three cases of complete buccal epithelial cell engraftment after HSCT detected by BME analysis, potentially leading to misinterpretation of testing results if these cells were used as the sole source for determining the recipient's genotype.
  
  
  CONCLUSIONS
  These cases suggest that complete engraftment of buccal epithelial cells may be a common finding in patients receiving HSCT, drawing attention to important issues such as the type of samples used for determining a patient's constitutional genotype that may confound testing results. This study also highlights the need for careful interpretation of the BME testing results in the context of the clinical findings.
authors.affiliation: Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, New York 10065, USA. har2006@med.cornell.edu
authors.forename: Hanna
authors.initials: H
authors.lastname: Rennert
authors.forename: Debra G B
authors.initials: DG
authors.lastname: Leonard
authors.forename: Melissa
authors.initials: M
authors.lastname: Cushing
authors.forename: Carmen
authors.initials: C
authors.lastname: Azurin
authors.forename: Tsiporah
authors.initials: T
authors.lastname: Shore
mesh_terms: D000328:Adult; D000368:Aged; D001854:Bone Marrow Cells / Q000166:cytology; D002610:Cheek; D005260:Female; D005838:Genotype; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*