DNA Test Provides a More Accurate Breast Cancer Diagnosis

Share Article

DNA testing commonly known as “DSPA” (DNA Specimen Provenance Assay) revealed undetected specimen provenance complications (SPCs) in several cases. Such errors can lead to a misdiagnosis of cancer when no cancer is present, potentially resulting in unnecessary surgery or other non-indicated procedures in an otherwise healthy patient.

Overall, just under 1 in every 200 patients were subject to provenance errors.

The possibility of receiving the wrong diagnosis after a breast biopsy is an unfortunate reality.

Dr. Arthur Lerner, MD FACS gave a poster presentation on the incidence of misattributed specimen provenance among surgical breast biopsies at the San Antonio Breast Cancer Symposium in December. The poster presentation included analysis of a cohort of over 3,500 patients diagnosed with breast cancer between February 2011 and April 2014.

Lerner explained that DNA testing commonly known as “DSPA” (DNA Specimen Provenance Assay) revealed undetected specimen provenance complications (SPCs) in several cases. Such errors can lead to a misdiagnosis of cancer when no cancer is present, potentially resulting in unnecessary surgery or other non-indicated procedures in an otherwise healthy patient. Conversely, provenance errors can possibly delay the diagnosis and treatment of a reciprocal patient.

During this study period patients seen by eight (13%) of the 61 physicians performing surgical biopsies were subjects of occult specimen provenance errors. The errors were categorized as Type 1, a complete transposition with another patient, and Type 2, contamination of the specimen by tissue from one or more unidentified individuals. Pathology was performed by 14 different laboratories, six of which (43%) experienced occult SPCs, as revealed by DSPA testing. Overall, just under 1 in every 200 patients (0.45%) were subject to provenance errors.

While these data are limited in statistical power, they suggest that the incidence of SPCs among breast biopsies may be comparable to that previously reported for prostate biopsies. The American Journal of Clinical Pathology published a study by Dr. John Pfeifer indicating that approximately 1% of prostate biopsy specimens (and up to 3.5% of those processed in certain clinical settings) did not belong exclusively to the patient being diagnosed. The San Antonio dataset was the first to quantify this phenomenon among breast biopsy patients.

“I enjoyed discussing the importance of specimen provenance with other breast surgeons, radiologists, oncologists, and pathologists, and the opportunities afforded by DSPA testing to prevent diagnostic errors that happen beyond our control. This simple and non-invasive DNA test can virtually eliminate the devastating consequences of mis-diagnosing breast cancer due to undetected switching or contamination of biopsy specimens, which happens more often than most patients and physicians might expect,” said Dr. Lerner. He is currently working to develop a national breast biopsy registry designed to expand on these preliminary data, so that the incidence and clinical significance of provenance errors among breast biopsies may be better understood.

All of the posters presented at SABCS are now available to the public at http://eposter.abstractsonline.com/sabcs/viewer/#main

Reference: Pfeifer JD, Liu J. Rate of Occult Specimen Provenance Complications in Routine Clinical Practice. Am J Clin Pathol. 2013;139:93-100.

Share article on socal media or email:

View article via:

Pdf Print

Contact Author

Linda Tuttle
Strand Diagnostics, LLC
+1 8889246779 Ext: 151
Email >
Visit website