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Molecular classification of endometrial carcinoma on endometrial biopsy: an early prognostic value to guide personalized treatment
  1. Stefano Restaino1,2,
  2. Alice Poli1,3,
  3. Martina Arcieri1,
  4. Laura Mariuzzi3,4,
  5. Maria Orsaria4,
  6. Angelica Tulisso4,
  7. Giulia Pellecchia1,3,
  8. Federico Paparcura1,3,
  9. Marco Petrillo5,
  10. Giorgio Bogani6,
  11. Stefano Cianci7,
  12. Vito Andrea Capozzi8,
  13. Anna Biasioli1,
  14. Alessandro Buda9,
  15. Jessica Mauro9,
  16. Francesco Fanfani10,11,
  17. Anna Fagotti10,11,
  18. Lorenza Driul1,3,
  19. Giovanni Scambia10,11 and
  20. Giuseppe Vizzielli1,3
    1. 1Clinic of Obstetrics and Gynecology, ‘Santa Maria della Misericordia’ University Hospital, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy
    2. 2School in Biomedical Sciences, Gender Medicine, Child and Women Health, University of Sassari, Sassari, Italy
    3. 3Department of Medicine, University of Udine, Udine, Italy
    4. 4Institute of Pathological Anatomy, ‘Santa Maria della Misericordia’ University Hospital, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy
    5. 5Department of Medicine, Surgery and Pharmacy, University of Sassari, Sassari, Italy
    6. 6Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome, Policlinico Umberto I, Rome, Italy
    7. 7Unit of Gynecology and Obstetrics, Department of Human Pathology of Adult and Childhood ‘G. Barresi’, University of Messina, Messina, Italy
    8. 8Department of Obstetrics and Gynecology, University of Parma, Parma, Italy
    9. 9Division of Gynecologic Oncology, Michele e Pietro Ferrero Hospital, Verduno, Italy
    10. 10Dipartimento Scienze della Salute della Donna e del Bambino, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
    11. 11Dipartimento Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Rome, Italy
    1. Correspondence to Dr Martina Arcieri, Clinic of Obstetrics and Gynecology, 'Santa Maria della Misericordia' University Hospital, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy; martina.arcieri{at}asufc.sanita.fvg.it

    Abstract

    Objective Molecular features are essential for estimating the risk of recurrence and impacting overall survival in patients with endometrial cancer. Additionally, the surgical procedure itself could be personalized based on the molecular characteristics of the tumor. This study aims to assess the feasibility of obtaining reliable molecular classification status from biopsy specimens collected during hysteroscopy to better modulate the appropriate surgical treatment.

    Methods This monocentric, retrospective, observational study was conducted on 106 patients who underwent a biopsy procedure followed by radical surgery for endometrial cancer, with concurrent molecular investigation. The molecular classification was determined through immunohistochemical staining for p53 and mismatch repair proteins, along with gene sequencing for POLE.

    Results Overall, 106 patients underwent molecular investigation, which was finally achieved on 99 patients (93.4%). Among these, the molecular analysis was conducted in 71 patients (67%) on the pre-operative endometrial biopsy and on the final uterine specimen in 28 patients (26.4%). Most of the endometrial biopsies were performed using Bettocchi hysteroscopy (66%). Molecular analysis was not possible in seven patients (6.6%), with six cases due to sample inadequacy and one case attributed to intra-mucosal carcinoma. The molecular results showed that the copy number low sub-group was the most common, and five cases of ‘multiple classifiers’ were observed in the low-risk category.

    Conclusion Our experience in obtaining molecular information from biopsy samples underscores the feasibility and efficacy of this technique, even in small tissue samples. This capability helps define the prognostic group of patients, facilitates timely decision-making, and develops a personalized strategy for each patient.

    • Endometrial Neoplasms
    • Gynecologic Surgical Procedures
    • Gynecology
    • Surgical Oncology
    • Hysteroscopes

    Data availability statement

    Data are available upon reasonable request. Following the journal’s guidelines, we will provide our data for independent analysis by a selected team by the Editorial Team for the purposes of additional data analysis or for the reproducibility of this study in other centers if such is requested.

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    Data availability statement

    Data are available upon reasonable request. Following the journal’s guidelines, we will provide our data for independent analysis by a selected team by the Editorial Team for the purposes of additional data analysis or for the reproducibility of this study in other centers if such is requested.

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    Footnotes

    • X @jess393, @annafagottimd

    • Collaborators Udine Hospital Gynecological-Oncological Tumor Board Group.

    • Contributors SR and GV conceptualized the study and conducted the statistical analyses. AP and MA drafted the initial version of the manuscript. LM, MO, AT, GP, FP and AB assisted with database searches. MP, GB, SC, VAC, AB, JM and FF reviewed the manuscript. GS and LD provided supervision during the writing process. SR is the guarantor.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.