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Short tandem repeat analysis: a practical tool to identify specimen mix-ups in the pathology laboratory

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Abstract

Despite all precautions in pathology laboratories, contaminations and specimen mix-ups still occur and can negatively impact both patients and institutions. We present two cases in which short tandem repeat (STR) analysis was used to assert the correct identity of specimens. The first patient had a biopsy diagnosis of triple negative invasive carcinoma of no special type of the breast. Sample mix-up with another biopsy was suspected, because in her post-chemotherapy mastectomy specimen, a hormone receptor–positive lobular carcinoma was diagnosed. STR analysis displayed a complete common loci profile of the patient’s biopsy and mastectomy, supporting that no mix-up occurred. The second patient underwent hysterectomy due to cervix squamous cell carcinoma. A fragment of adenocarcinoma was identified and confirmed by STR profile to be a contaminant. STR analysis is a fast, easy-to-perform, and widely available technique which can clarify contaminations and specimen mix-ups in pathology laboratories.

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References

  1. Baine I, Hui P (2019) Practical applications of DNA genotyping in diagnostic pathology. Expert Rev Mol Diagn 19:175–188. https://doi.org/10.1080/14737159.2019.1568874

    Article  CAS  PubMed  Google Scholar 

  2. Biotype (2022) Mentype® Chimera® PCR amplification kit: instructions for use. CHNIFU01v10en, Germany

  3. Blouin AG, Ye F, Williams J, Askar M (2021) A practical guide to chimerism analysis: review of the literature and testing practices worldwide. Hum Immunol 82:838–849. https://doi.org/10.1016/j.humimm.2021.07.013

    Article  PubMed  PubMed Central  Google Scholar 

  4. Christgen M, Steinemann D, Kuhnle E, Langer F, Gluz O, Harbeck N, Kreipe H (2016) Lobular breast cancer: clinical, molecular and morphological characteristics. Pathol Res Pract 212:583–597. https://doi.org/10.1016/j.prp.2016.05.002

    Article  CAS  PubMed  Google Scholar 

  5. Hodgson AJ, Shang YM, Boulianne P, Downes MR, Hwang D, Slodkowska E (2020) A practical approach to investigating cross-contaminants in the anatomical pathology laboratory. Int J Surg Pathol 28:700–710. https://doi.org/10.1177/1066896920913110

    Article  PubMed  Google Scholar 

  6. Hunt JL (2008) Identifying cross contaminants and specimen mix-ups in surgical pathology. Adv Anat Pathol 15:211–217. https://doi.org/10.1097/PAP.0b013e31817bf596

    Article  PubMed  Google Scholar 

  7. Isakoff SJ (2010) Triple-negative breast cancer: role of specific chemotherapy agents. Cancer J 16:53–61. https://doi.org/10.1097/PPO.0b013e3181d24ff7

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Makary MA, Epstein J, Pronovost PJ, Millman EA, Hartmann EC, Freischlag JA (2007) Surgical specimen identification errors: a new measure of quality in surgical care. Surgery 141:450–455. https://doi.org/10.1016/j.surg.2006.08.018

    Article  PubMed  Google Scholar 

  9. Mariappan MR, Zehnder J, Arber DA, Lay M, Fadare O, Schrijver I (2005) Identification of mislabeled specimen by molecular methods: case report and review. Int J Surg Pathol 13:253–258. https://doi.org/10.1177/106689690501300304

    Article  PubMed  Google Scholar 

  10. Pfeifer JD (2019) Identity determination in diagnostic surgical pathology. Semin Diagn Pathol 36:355–365. https://doi.org/10.1053/j.semdp.2019.06.001

    Article  PubMed  Google Scholar 

  11. Pfeifer JD, Zehnbauer B, Payton J (2011) The changing spectrum of DNA-based specimen provenance testing in surgical pathology. Am J Clin Pathol 135:132–138. https://doi.org/10.1309/AJCPLNO4PFVZVA4P

    Article  PubMed  Google Scholar 

  12. Valenstein PN, Sirota RL (2004) Identification errors in pathology and laboratory medicine. Clin Lab Med 24:979-996, vii. https://doi.org/10.1016/j.cll.2004.05.013

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Authors and Affiliations

  1. Department of Pathology, Centro Hospitalar de Vila Nova de Gaia/Espinho, Porto, Portugal

    David João

  2. Department of Pathology, Portuguese Oncology Institute of Porto (IPO Porto), Porto, Portugal

    Sara Cardoso, Paula Monteiro, Conceição Leal & Carla Bartosch

  3. Cancer Biology & Epigenetics Group, Research Center of IPO Porto (CI-IPOP)/RISE@CI-IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC), Porto, Portugal

    Carla Bartosch

Authors
  1. David João
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  2. Sara Cardoso
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  3. Paula Monteiro
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  4. Conceição Leal
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  5. Carla Bartosch
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Contributions

Carla Bartosch devised the manuscript’s original idea. Paula Monteiro was responsible for laboratory records review. Sara Cardoso was responsible for STR technical execution, and David João, Sara Cardoso, and Carla Bartosch contributed to results interpretation. David João wrote the manuscript with the support of Sara Cardoso, Carla Bartosch, and Conceição Leal. Carla Bartosch made the figures. David João, Carla Bartosch, Conceição Leal, Paula Monteiro, and Sara Cardoso revised and approved the final manuscript.

Corresponding author

Correspondence to David João.

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Informed consent for sample research use and study publication was obtained from the patients.

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The authors declare no competing interests.

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João, D., Cardoso, S., Monteiro, P. et al. Short tandem repeat analysis: a practical tool to identify specimen mix-ups in the pathology laboratory. Virchows Arch 483, 549–554 (2023). https://doi.org/10.1007/s00428-023-03578-7

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  • DOI: https://doi.org/10.1007/s00428-023-03578-7

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