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Endometrial Carcinoma (EC) — References

Curated bibliography supporting the mechanistic map, mrgsolve QSP model, and Shiny dashboard in this directory. Organised by section. PubMed links are given directly where a specific PMID was confirmed, and as a PubMed search query where only the citation (not a verified PMID) was available.

1. Epidemiology, Risk Factors & Natural History

  1. Sung H, Ferlay J, Siegel RL, et al. Global Cancer Statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209-249. PMID 33538338
  2. Crosbie EJ, Kitson SJ, McAlpine JN, et al. Endometrial cancer. Lancet. 2022;399(10333):1412-1428. PMID 35397864
  3. Renehan AG, Tyson M, Egger M, et al. Body-mass index and incidence of cancer: a systematic review and meta-analysis of prospective observational studies. Lancet. 2008;371(9612):569-578. PMID 18280327
  4. Onstad MA, Schmandt RE, Lu KH. Addressing the role of obesity in endometrial cancer risk, prevention, and treatment. J Clin Oncol. 2016;34(35):4225-4230. PMID 27903150
  5. Setiawan VW, Yang HP, Pike MC, et al. Type I and II endometrial cancers: have they different risk factors? J Clin Oncol. 2013;31(20):2607-2618. PMID 23733771
  6. Lu KH, Broaddus RR. Endometrial cancer. N Engl J Med. 2020;383(21):2053-2064. PMID 33207095
  7. Fisher B, Costantino JP, Wickerham DL, et al. Tamoxifen for prevention of breast cancer: report of the NSABP P-1 study (endometrial cancer risk). J Natl Cancer Inst. 1998;90(18):1371-1388. PMID 9747868

2. Unopposed Oestrogen, Aromatase & the Metabolic Axis

  1. Key TJ, Pike MC. The dose-effect relationship between "unopposed" oestrogens and endometrial mitotic rate: its central role in explaining and predicting endometrial cancer risk. Br J Cancer. 1988;57(2):205-212. PMID 3358913
  2. Simpson ER. Sources of estrogen and their importance. J Steroid Biochem Mol Biol. 2003;86(3-5):225-230. PMID 14623515
  3. Allen NE, Key TJ, Dossus L, et al. Endogenous sex hormones and endometrial cancer risk in women in the European Prospective Investigation into Cancer and Nutrition (EPIC). Endocr Relat Cancer. 2008;15(2):485-497. PMID 18509001
  4. Mu N, Zhu Y, Wang Y, et al. Insulin resistance: a significant risk factor of endometrial cancer. Gynecol Oncol. 2012;125(3):751-757. PMID 22449736
  5. Kim JJ, Chapman-Davis E. Role of progesterone in endometrial cancer. Semin Reprod Med. 2010;28(1):81-90. PMID 20104432
  6. Jones A, Teschendorff AE, Li Q, et al. Role of DNA methylation and epigenetic silencing of HAND2 in endometrial cancer development. PLoS Med. 2013;10(11):e1001551. PMID 24265601

3. TCGA Molecular Classification (the axis this model is built on)

  1. Kandoth C, Schultz N, Cherniack AD, et al. (The Cancer Genome Atlas Research Network). Integrated genomic characterization of endometrial carcinoma. Nature. 2013;497(7447):67-73. PMID 23636398
  2. Talhouk A, McConechy MK, Leung S, et al. A clinically applicable molecular-based classification for endometrial cancers. Br J Cancer. 2015;113(2):299-310. PMID 26172027
  3. Talhouk A, McConechy MK, Leung S, et al. Confirmation of ProMisE: a simple, genomics-based clinical classifier for endometrial cancer. Cancer. 2017;123(5):802-813. PMID 28061006
  4. Stelloo E, Nout RA, Osse EM, et al. Improved risk assessment by integrating molecular and clinicopathological factors in early-stage endometrial cancer — combined analysis of the PORTEC cohorts. Clin Cancer Res. 2016;22(16):4215-4224. PMID 27006490
  5. León-Castillo A, de Boer SM, Powell ME, et al. Molecular classification of the PORTEC-3 trial for high-risk endometrial cancer: impact on prognosis and benefit from adjuvant therapy. J Clin Oncol. 2020;38(29):3388-3397. PMID 32749941
  6. Berek JS, Matias-Guiu X, Creutzberg C, et al. FIGO staging of endometrial cancer: 2023. Int J Gynaecol Obstet. 2023;162(2):383-394. PMID 37337978
  7. Concin N, Matias-Guiu X, Vergote I, et al. ESGO/ESTRO/ESP guidelines for the management of patients with endometrial carcinoma. Int J Gynecol Cancer. 2021;31(1):12-39. PMID 33397713

4. POLE Ultramutation & Mismatch-Repair Deficiency

  1. Church DN, Briggs SEW, Palles C, et al. DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer. Hum Mol Genet. 2013;22(14):2820-2828. PMID 23528559
  2. van Gool IC, Eggink FA, Freeman-Mills L, et al. POLE proofreading mutations elicit an antitumor immune response in endometrial cancer. Clin Cancer Res. 2015;21(14):3347-3355. PMID 25878334
  3. Howitt BE, Shukla SA, Sholl LM, et al. Association of polymerase e-mutated and microsatellite-instable endometrial cancers with neoantigen load, number of tumor-infiltrating lymphocytes, and expression of PD-1 and PD-L1. JAMA Oncol. 2015;1(9):1319-1323. PMID 26181000
  4. Bellone S, Bignotti E, Lonardi S, et al. Polymerase ε (POLE) ultra-mutation in uterine tumors correlates with T lymphocyte infiltration and increased resistance to progression. Gynecol Oncol. 2017;144(1):146-152. PMID 27817932
  5. Le DT, Durham JN, Smith KN, et al. Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science. 2017;357(6349):409-413. PMID 28596308
  6. Turajlic S, Litchfield K, Xu H, et al. Insertion-and-deletion-derived tumour-specific neoantigens and the immunogenic phenotype: a pan-cancer analysis. Lancet Oncol. 2017;18(8):1009-1021. PMID 28694034
  7. Ryan NAJ, Glaire MA, Blake D, et al. The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis. Genet Med. 2019;21(10):2167-2180. PMID 30918358

5. Tumour Mutational Burden → Neoantigen → Checkpoint Response

  1. Chan TA, Yarchoan M, Jaffee E, et al. Development of tumor mutation burden as an immunotherapy biomarker: utility for the oncology clinic. Ann Oncol. 2019;30(1):44-56. PMID 30395155
  2. Yarchoan M, Hopkins A, Jaffee EM. Tumor mutational burden and response rate to PD-1 inhibition. N Engl J Med. 2017;377(25):2500-2501. PMID 29262275
  3. Samstein RM, Lee CH, Shoushtari AN, et al. Tumor mutational load predicts survival after immunotherapy across multiple cancer types. Nat Genet. 2019;51(2):202-206. PMID 30643254
  4. Marabelle A, Fakih M, Lopez J, et al. Association of tumour mutational burden with outcomes in patients with advanced solid tumours treated with pembrolizumab (KEYNOTE-158). Lancet Oncol. 2020;21(10):1353-1365. PMID 32919526
  5. Zaretsky JM, Garcia-Diaz A, Shin DS, et al. Mutations associated with acquired resistance to PD-1 blockade in melanoma (JAK1/JAK2, B2M). N Engl J Med. 2016;375(9):819-829. PMID 27433843

6. Pivotal Immunotherapy Trials in Endometrial Cancer

  1. Mirza MR, Chase DM, Slomovitz BM, et al. Dostarlimab for primary advanced or recurrent endometrial cancer (RUBY). N Engl J Med. 2023;388(23):2145-2158. PMID 36972026
  2. Eskander RN, Sill MW, Beffa L, et al. Pembrolizumab plus chemotherapy in advanced endometrial cancer (NRG-GY018). N Engl J Med. 2023;388(23):2159-2170. PMID 36972022
  3. Oaknin A, Tinker AV, Gilbert L, et al. Clinical activity and safety of the anti-PD-1 monoclonal antibody dostarlimab for patients with recurrent or advanced mismatch repair-deficient endometrial cancer (GARNET). JAMA Oncol. 2020;6(11):1766-1772. PMID 33001143
  4. Makker V, Colombo N, Casado Herráez A, et al. Lenvatinib plus pembrolizumab for advanced endometrial cancer (KEYNOTE-775 / Study 309). N Engl J Med. 2022;386(5):437-448. PMID 35045221
  5. Makker V, Rasco D, Vogelzang NJ, et al. Lenvatinib plus pembrolizumab in patients with advanced endometrial cancer: an interim analysis of a multicentre, open-label, single-arm, phase 2 trial. Lancet Oncol. 2019;20(5):711-718. PMID 30922731
  6. O'Malley DM, Bariani GM, Cassier PA, et al. Pembrolizumab in patients with microsatellite instability-high advanced endometrial cancer: results from the KEYNOTE-158 study. J Clin Oncol. 2022;40(7):752-761. PMID 34990208
  7. Westin SN, Moore K, Chon HS, et al. Durvalumab plus carboplatin/paclitaxel followed by maintenance durvalumab with or without olaparib as first-line treatment for advanced endometrial cancer (DUO-E). J Clin Oncol. 2024;42(3):283-299. PMID 37864337
  8. Colombo N, Biagioli E, Harano K, et al. Atezolizumab and chemotherapy for advanced or recurrent endometrial cancer (AtTEnd). Lancet Oncol. 2024;25(9):1135-1146. PubMed search

7. Angiogenesis, Lenvatinib & Tumour-Microenvironment Reprogramming

  1. Kato Y, Tabata K, Kimura T, et al. Lenvatinib plus anti-PD-1 antibody combination treatment activates CD8+ T cells through reduction of tumor-associated macrophage and activation of the interferon pathway. PLoS One. 2019;14(2):e0212513. PMID 30811474
  2. Jain RK. Normalizing tumor microenvironment to treat cancer: bench to bedside to biomarkers. J Clin Oncol. 2013;31(17):2205-2218. PMID 23669226
  3. Fukumura D, Kloepper J, Amoozgar Z, et al. Enhancing cancer immunotherapy using antiangiogenics: opportunities and challenges. Nat Rev Clin Oncol. 2018;15(5):325-340. PMID 29508855
  4. Gabrilovich DI, Chen HL, Girgis KR, et al. Production of vascular endothelial growth factor by human tumors inhibits the functional maturation of dendritic cells. Nat Med. 1996;2(10):1096-1103. PMID 8837607
  5. Aoki S, Inoue K, Klein S, et al. Placental growth factor promotes tumour desmoplasia and treatment resistance. PubMed search

8. PI3K/PTEN/mTOR Pathway & Endocrine Crosstalk

  1. Cheung LWT, Hennessy BT, Li J, et al. High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability. Cancer Discov. 2011;1(2):170-185. PMID 21984976
  2. Mutter GL, Lin MC, Fitzgerald JT, et al. Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers. J Natl Cancer Inst. 2000;92(11):924-930. PMID 10841828
  3. Slomovitz BM, Coleman RL. The PI3K/AKT/mTOR pathway as a therapeutic target in endometrial cancer. Clin Cancer Res. 2012;18(21):5856-5864. PMID 23082003
  4. Slomovitz BM, Jiang Y, Yates MS, et al. Phase II study of everolimus and letrozole in patients with recurrent endometrial carcinoma. J Clin Oncol. 2015;33(8):930-936. PMID 25624430
  5. Campbell RA, Bhat-Nakshatri P, Patel NM, et al. Phosphatidylinositol 3-kinase/AKT-mediated activation of estrogen receptor alpha: a new model for anti-estrogen resistance. J Biol Chem. 2001;276(13):9817-9824. PMID 11139588

9. Cytotoxic Chemotherapy & Radiotherapy

  1. Miller DS, Filiaci VL, Mannel RS, et al. Carboplatin and paclitaxel for advanced endometrial cancer: final overall survival and adverse event analysis of a phase III trial (NRG Oncology/GOG-0209). J Clin Oncol. 2020;38(33):3841-3850. PMID 32906015
  2. de Boer SM, Powell ME, Mileshkin L, et al. Adjuvant chemoradiotherapy versus radiotherapy alone for women with high-risk endometrial cancer (PORTEC-3): final results of an international, open-label, multicentre, randomised, phase 3 trial. Lancet Oncol. 2018;19(3):295-309. PMID 29449189
  3. Matei D, Filiaci V, Randall ME, et al. Adjuvant chemotherapy plus radiation for locally advanced endometrial cancer (GOG-258). N Engl J Med. 2019;380(24):2317-2326. PMID 31189035
  4. Friberg LE, Henningsson A, Maas H, et al. Model of chemotherapy-induced myelosuppression with parameter consistency across drugs. J Clin Oncol. 2002;20(24):4713-4721. PMID 12488418
  5. Calvert AH, Newell DR, Gumbrell LA, et al. Carboplatin dosage: prospective evaluation of a simple formula based on renal function. J Clin Oncol. 1989;7(11):1748-1756. PMID 2681557

10. Hormonal Therapy & Fertility-Sparing Management

  1. Fiorica JV, Brunetto VL, Hanjani P, et al. Phase II trial of alternating courses of megestrol acetate and tamoxifen in advanced endometrial carcinoma: a Gynecologic Oncology Group study. Gynecol Oncol. 2004;92(1):10-14. PMID 14751131
  2. Whitney CW, Brunetto VL, Zaino RJ, et al. Phase II study of medroxyprogesterone acetate plus tamoxifen in advanced endometrial carcinoma: a Gynecologic Oncology Group study. Gynecol Oncol. 2004;92(1):4-9. PMID 14751130
  3. Gunderson CC, Fader AN, Carson KA, Bristow RE. Oncologic and reproductive outcomes with progestin therapy in women with endometrial hyperplasia and grade 1 adenocarcinoma: a systematic review. Gynecol Oncol. 2012;125(2):477-482. PMID 22245711
  4. Westin SN, Fellman B, Sun CC, et al. Prospective phase II trial of levonorgestrel intrauterine device: nonsurgical approach for complex atypical hyperplasia and early-stage endometrial cancer. Am J Obstet Gynecol. 2021;224(2):191.e1-191.e15. PMID 32805208
  5. Janda M, Robledo KP, Gebski V, et al. Complete pathological response following levonorgestrel intrauterine device in clinically stage 1 endometrial adenocarcinoma (feMMe): results of a randomized clinical trial. Gynecol Oncol. 2021;161(1):143-151. PMID 33762086
  6. Yang B, Xu Y, Zhu Q, et al. Treatment efficiency of comprehensive hysteroscopic evaluation and lesion resection combined with progestin therapy in young women with endometrial atypical hyperplasia and endometrial cancer. Gynecol Oncol. 2019;153(1):55-62. PMID 30709650
  7. Yang S, Thiel KW, Leslie KK. Progesterone: the ultimate endometrial tumor suppressor. Trends Endocrinol Metab. 2011;22(4):145-152. PMID 21353793

11. Targeted Agents: HER2, XPO1, PARP

  1. Fader AN, Roque DM, Siegel E, et al. Randomized phase II trial of carboplatin-paclitaxel versus carboplatin-paclitaxel-trastuzumab in uterine serous carcinomas that overexpress human epidermal growth factor receptor 2/neu. J Clin Oncol. 2018;36(20):2044-2051. PMID 29584549
  2. Vergote I, Pérez-Fidalgo JA, Hamilton EP, et al. Oral selinexor as maintenance therapy after first-line chemotherapy for advanced or recurrent endometrial cancer (SIENDO / ENGOT-EN5-GOG-3055). J Clin Oncol. 2023;41(35):5400-5410. PMID 37669480
  3. Nishikawa T, Hasegawa K, Matsumoto K, et al. Trastuzumab deruxtecan for HER2-expressing solid tumors: results from the phase 2 DESTINY-PanTumor02 trial. J Clin Oncol. 2023;41(36):5405-5417. PubMed search

12. Biomarkers, ctDNA & Response Assessment

  1. Eisenhauer EA, Therasse P, Bogaerts J, et al. New response evaluation criteria in solid tumours: revised RECIST guideline (version 1.1). Eur J Cancer. 2009;45(2):228-247. PMID 19097774
  2. Bogani G, Monk BJ, Powell MA, et al. Adding immunotherapy to first-line treatment of advanced and metastatic endometrial cancer. Ann Oncol. 2024;35(5):414-428. PubMed search
  3. Ashley CW, Selenica P, Patel J, et al. High-sensitivity mutation analysis of cell-free DNA for disease monitoring in endometrial cancer. Clin Cancer Res. 2023;29(2):410-421. PubMed search

13. Trial Design & De-escalation (RAINBO and successors)

  1. RAINBO Research Consortium. Refining adjuvant treatment in endometrial cancer based on molecular features: the RAINBO clinical trial program. Int J Gynecol Cancer. 2023;33(1):109-117. PMID 36585027
  2. van den Heerik ASVM, Horeweg N, de Boer SM, et al. Adjuvant therapy for endometrial cancer in the era of molecular classification: radiotherapy, chemoradiation and novel targets for therapy. Int J Gynecol Cancer. 2021;31(4):594-604. PMID 33082238

14. QSP Methodology & Modelling Practice

  1. Chelliah V, Lazarou G, Bhatnagar S, et al. Quantitative systems pharmacology approaches for immuno-oncology: adding virtual patients to the development paradigm. Clin Pharmacol Ther. 2021;109(3):605-618. PMID 32686076
  2. Jafarnejad M, Gong C, Gabrielson E, et al. A computational model of neoadjuvant PD-1 inhibition in non-small cell lung cancer. AAPS J. 2019;21(5):79. PMID 31236847
  3. Baron KT, Gastonguay MR. Simulation from ODE-based population PK/PD and systems pharmacology models in R with mrgsolve. J Pharmacokinet Pharmacodyn. 2015;42:S84-S85. mrgsolve documentation
  4. Milberg O, Gong C, Jafarnejad M, et al. A QSP model for predicting clinical responses to monotherapy, combination and sequential therapy following CTLA-4, PD-1, and PD-L1 checkpoint blockade. Sci Rep. 2019;9:11286. PMID 31375713
  5. Bruno R, Bottino D, de Alwis DP, et al. Progress and opportunities to advance clinical cancer therapeutics using tumor dynamic models. Clin Cancer Res. 2020;26(8):1787-1795. PMID 31871300

Notes on how these references map onto the model

Model element Anchoring reference(s)
TMB_POLE / TMB_MMRD / TMB_NSMP / TMB_P53 14, 21, 23
TMB50 = 13, HILL_TMB = 1.4 (the central Hill function) 28, 29, 30, 31
FS_WEIGHT (indel neoantigens are more immunogenic per mutation) 23, 26
EXCL_P53 (immune-excluded copy-number-high phenotype) 14, 18
APCv / B2M_LOSS (antigen-presentation escape) 32
Anti-PD-1 PK and IC50_IO 33, 34, 35
LEN_MDSC, LEN_NORM (the KEYNOTE-775 mechanism) 36, 41, 42, 43, 44
ICD_CHEMO (platinum immunogenic cell death; why IO+chemo > IO alone in pMMR) 34, 35, 39
AROM_SLOPE, KSYN_E2 (adipose aromatase, BMI dose-response) 3, 4, 8, 9, 10
W_LIGIND (ligand-independent ERa activation; everolimus + letrozole) 49, 50
K_PRDOWN, K_TAM_PR (progestin resistance and tamoxifen re-induction) 56, 57, 62
IUS_FACTOR (local vs systemic progestin exposure) 59, 60
HER2_DRIVE, HER2_BLOCK 63
Carboplatin/paclitaxel PK and EMAX_CARB/EMAX_PTX 51, 55
Friberg myelosuppression (MTT_NEUT, GAMMA_FB) 54
POLEmut de-escalation scenario 18, 24, 69, 70
CA125, CTDNA observation models 66, 68