Investigation on genetic thrombophilic factors in FFPE autopsy tissue from subjects who died from pulmonary embolism

Francesco Brandimarti, Federica Alessandrini, Mauro Pesaresi, Chiara Catalani, Letizia De Angelis, Roberta Galeazzi, Simona Giovagnetti, Rosaria Gesuita, Elisa Righi, Raffaele Giorgetti, Adriano Tagliabracci

Research output: Contribution to journalArticlepeer-review

Abstract

Venous thromboembolism (VTE) is a multifactorial disease determined by a combination of inherited and acquired factors. Inherited factors include mutations in the genes coding for coagulation factors, some of which seem to exert a differential influence on the risk of developing deep vein thrombosis (DVT) and pulmonary embolism (PE). In post-mortem studies of subjects who have died from pulmonary embolism (PE), the analysis of the factors that may have augmented the VTE risk is often limited to acquired factors. This is due to the complexity—and sometimes the unfeasibility—of analyzing genetic factors and to insufficient knowledge of their individual roles in PE development. The present study used formalin-fixed paraffin-embedded (FFPE) tissue to investigate a panel of 12 polymorphisms—the largest ever studied—that affect the VTE risk. Tissue samples came from post-mortem examinations performed by the specialists of the Section of Legal Medicine of the Department of Pathology of Marche’s Polytechnic University, and by the specialists of Health Care District Hospital of Imola, on 44 subjects who died from PE in the period 1997–2014. All individuals were found to have at least one mutation affecting the VTE risk. The present study demonstrates that genetic analysis can be performed post-mortem and the results are useful for forensic investigations, especially from MTHFR C677T and PAI-1 4G/5G polymorphisms. Broader studies using the techniques described herein are needed to determine the relative influence of the individual polymorphisms and their interaction in PE deaths.

Original languageEnglish
Pages (from-to)447-458
Number of pages12
JournalInternational Journal of Legal Medicine
Volume131
Issue number2
DOIs
Publication statusPublished - Mar 1 2017

Keywords

  • Deep vein thrombosis
  • Hereditary thrombophilia
  • Pulmonary embolism
  • Venous thromboembolism

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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