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. 2024 Aug 16:30:1611835.
doi: 10.3389/pore.2024.1611835. eCollection 2024.

Molecular classification of endometrial cancer: preliminary experience from a single Portuguese academic center

João Casanova  1 , Ana G da Costa  1 , Ana Pestana Lopes  2 , Ana Catarino  2 , Mónica Nave  3 , Ana Carla Sousa  4 , Jorge Lima  5   6
Affiliations

Molecular classification of endometrial cancer: preliminary experience from a single Portuguese academic center

João Casanova et al. Pathol Oncol Res. .

Abstract

Background: Since the seminal publication of the TCGA consortium in 2013, the molecular classification of endometrial cancer has been widely accepted as a new and powerful tool to better understand the natural history of this malignancy. Adoption of routine molecular classification around the world has been limited. We sought to demonstrate our initial experience in incorporating the four molecular subtypes for endometrioid carcinomas.

Methods: This was a retrospective analysis at a single center in Portugal. Molecular classification was determined using immunohistochemical staining for MMR and p53 and Sanger Sequencing to determine POLE mutation status as per published PROMISE method. Descriptive statistics were reported.

Results: 20 patients with endometrioid histology were included. Median age of the cohort was 64 years (range 45-76). Median Body Mass Index (kg/m2) was 29.81 (range 21.3-43.1). In terms of tumor grading, 16 (80%) of the endometrial carcinomas of the cohort were low-grade (either grade 1 or grade 2). 16 (80%) of the cases were FIGO stage I. Regarding the molecular classification the tumors were classified as: MMRd [n = 6 (30%)]; p53 abn [n = 2 (10%)]; NSMP (n = 10 (50%)), POLE ultramut [n = 2 (10%)].

Conclusion: Despite the small sample size, we were able to show that molecular classification is feasible. To our knowledge this is the first cohort of endometroid endometrial carcinomas fully characterized according to the TCGA classification in Portugal, from one single center.

Keywords: DNA sequencing; POLE mutation; endometrial cancer; molecular profiling; molecular subtypes.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Flowchart of EC tissue samples, IHC and Sanger sequencing for POLE mutation status.
FIGURE 2
FIGURE 2
Immunohistochemical staining of DNA mismatch repair (MMR) markers MLH1, PMS2, MSH2, and MSH6. (A–D) Examples of DNA MMR-proficient staining patterns showing intact/retained nuclear staining. (E,F) Examples of MMR-deficient staining patterns showing loss of expression of PMS2 and MLH1, respectively; (magnification ×100).
FIGURE 3
FIGURE 3
Immunohistochemical staining of p53 marker. (A) p53 overexpression (abnormal p53). (B) Normal expression of p53 (p53 wild type); (magnification ×100).
See this image and copyright information in PMC

References

    1. Lu KH, Broaddus RR. Endometrial cancer. N Engl J Med (2020) 383(21):2053–64. From NLM Medline. 10.1056/NEJMra1514010 - DOI - PubMed
    1. Bokhman JV. Two pathogenetic types of endometrial carcinoma. Gynecol Oncol (1983) 15(1):10–7. From NLM. 10.1016/0090-8258(83)90111-7 - DOI - PubMed
    1. Hanby AM, walker C, Tavassoli FA, Devilee P. Tavassoli FA, devilee P: Pathology and genetics: tumours of the breast and female genital organs. WHO classification of tumours series - volume IV. Lyon, France: IARC press: 2003. 250pp. ISBN 92 832 2412 4. Breast Cancer Res (2004) 6(3):133. 10.1186/bcr788 - DOI
    1. Cancer Genome Atlas Research N, Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, et al. Integrated genomic characterization of endometrial carcinoma. Nature (2013) 497(7447):67–73. From NLM Medline. 10.1038/nature12113 - DOI - PMC - PubMed
    1. Henry CE, Phan K, Orsman EJ, Kenwright D, Thunders MC, Filoche SK. Molecular profiling of endometrial cancer: an exploratory study in aotearoa, New Zealand. Cancers (Basel) (2021) 13(22):5641. From NLM PubMed-not-MEDLINE. 10.3390/cancers13225641 - DOI - PMC - PubMed

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