Pohľad na klasifi káciu a manažment endometriálneho karcinómu v kontexte molekulárnych subtypov
Autoři:
Zuzana Ballová
; Petra Gašparová
; M. Sitáš
; Erik Dosedla
Působiště autorů:
Department of Gynaecology and Obstetrics, Faculty of Medicine, University P. J. Safarik in Košice, Hospital AGEL Košice-Šaca Inc., Slovak Republic
Vyšlo v časopise:
Ceska Gynekol 2024; 89(2): 128-132
Kategorie:
Přehledová práce
doi:
https://doi.org/10.48095/cccg2024128
Souhrn
Karcinóm endometria je najčastejším gynekologickým karcinómom a druhým najčastejším ženským zhubným nádorom v rozvinutom svete. Zvyčajne sa diagnostikovaný u žien po menopauze s typickým klinickým obrazom abnormálneho krvácania z maternice. V minulosti sa na základe histologického hodnotenia zvažovali iba dva typy. Endometriálny karcinóm je však klinicky heterogénne ochorenie a je čoraz jasnejšie, že táto heterogenita môže byť hybnou silou pri určení rôznorodosti na základe molekulárnych zmien. The Cancer Genome Atlas klasifikačný systémy zlepšil diagnostiku, stratifikáciu rizika a manažment endometriálneho karcinómu popisom štyroch molekulárnych podskupín s rôznou mutačnou záťažou a zmenami v počte kópií.
Klíčová slova:
p53 – endometriálny karcinóm – molekulárna klasifikácia – POLE mutácia – The Cancer Genome Atlas Research Network – hysterektómia – cielená terapia – mismatch-repair
Zdroje
1. Makker V, MacKay H, Ray-Coquard I et al. Endometrial cancer. Nat Rev Dis Primers 2021; 7 (1): 88. doi: 10.1038/s41572-021-00324-8.
2. Raglan O, Kalliala I, Markozannes G et al. Risk factors for endometrial cancer: an umbrella review of the literature. Int J Cancer 2019; 145 (7): 1719–1730. doi: 10.1002/ijc.31961.
3. Clarke MA, Long BJ, Del Mar Morillo A et al. Association of endometrial cancer risk with postmenopausal bleeding in women: a systematic review and meta-analysis. JAMA Intern Med 2018; 178 (9): 1210–1222. doi: 10.1001/jmainternmed.2018.2820.
4. Brooks RA, Fleming GF, Lastra RR et al. Current recommendations and recent progress in endometrial cancer. CA Cancer J Clin 2019; 69 (4): 258–279. doi: 10.3322/caac.21561.
5. Bidzinski M, Danska-Bidzinska A, Rychlik A et al. Molecular classification of endometrial carcinoma, is it the new era of precision medicine? Ginekol Pol 2022; 93 (2): 163–167. doi: 10.5603/GP.a2021.0216.
6. Mitric C, Bernardini MQ. Endometrial cancer: transitioning from histology to genomics. Curr Oncol 2022; 29 (2): 741–757. doi: 10.3390/curroncol29020063.
7. Urick ME, Bell DW. Clinical actionability of molecular targets in endometrial cancer. Nat Rev Cancer 2019; 19 (9): 510–521. doi: 10.1038/s41568-019-0177-x.
8. Nees LK, Heublein S, Steinmacher S et al. Endometrial hyperplasia as a risk factor of endometrial cancer. Arch Gynecol Obstet 2022; 306 (2): 407–421. doi: 10.1007/s00404-021-06380-5.
9. Boroń D, Zmarzły N, Wierzbik-Strońska M et al. Recent multiomics approaches in endometrial cancer. Int J Mol Sci 2022; 23 (3): 1237. doi: 10.3390/ijms23031237.
10. 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. doi: 10.1136/ijgc-2020-002230.
11. Yen TT, Wang TL, Fader AN et al. Molecular classification and emerging targeted therapy in endometrial cancer. Int J Gynecol Pathol 2020; 39 (1): 26–35. doi: 10.1097/PGP.0000 00000 0000585.
12. Braun MM, Overbeek-Wager EA, Grumbo RJ. Diagnosis and management of endometrial cancer. Am Fam Physician 2016; 93 (6): 468–474.
13. Oaknin A, Bosse TJ, Creutzberg CL et al. ESMO Guidelines Committee. Endometrial cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol 2022; 33 (9): 860–877. doi: 10.1016/j.annonc.2022.05.009.
14. Sobel M, Simpson AN, Ferguson SE. Endometrial cancer. CMAJ 2021; 193 (36): E1423. doi: 10.1503/cmaj.202731.
15. Murali R, Delair DF, Bean SM et al. Evolving roles of histologic evaluation and molecular/genomic profiling in the management of endometrial cancer. J Natl Compr Canc Netw 2018; 16 (2): 201–209. doi: 10.6004/jnccn.2017.7066.
16. Kobayashi Y, Kitazono I, Akahane T et al. Molecular evaluation of endometrial dedifferentiated carcinoma, endometrioid carcinoma, carcinosarcoma, and serous carcinoma using a custom-made small cancer panel. Pathol Oncol Res 2021; 27: 1610013. doi: 10.3389/pore.2021. 1610013.
17. Li Y, He Q, Li S et al. POLE mutation characteristics in a Chinese cohort with endometrial carcinoma. Onco Targets Ther 2020; 13: 7305–7316. doi: 10.2147/OTT.S258642.
18. León-Castillo A, Britton H, McConechy MK et al. Interpretation of somatic POLE mutations in endometrial carcinoma. J Pathol 2020; 250 (3): 323–335. doi: 10.1002/path.5372.
19. Jumaah AS, Salim MM, Al-Haddad HS et al. The frequency of POLE-mutation in endometrial carcinoma and prognostic implications: a systemic review and meta-analysis. J Pathol Transl Med 2020; 54 (6): 471–479. doi: 10.4132/jptm. 2020.07.23.
20. Yu S, Sun Z, Zong L et al. Clinicopathological and molecular characterization of high- -grade endometrial carcinoma with POLE mutation: a single center study. J Gynecol Oncol 2022; 33 (3): e38. doi: 10.3802/jgo.2022.33.e38.
21. Pasciuto MP, Felicioni L, Zampacorta C et al. POLE exonuclease domain mutations in endometrial carcinoma: a case report. Pathologica 2023; 1 (1): 181–185. doi: 10.32074/1591-951X- 872.
22. Alexa M, Hasenburg A, Battista MJ. The TCGA molecular classification of endometrial cancer and its possible impact on adjuvant treatment decisions. Cancers (Basel) 2021; 13 (6): 1478. doi: 10.3390/cancers13061478.
23. Arciuolo D, Travaglino A, Raffone A et al. TCGA molecular prognostic groups of endometrial carcinoma: current knowledge and future perspectives. Int J Mol Sci 2022; 23 (19): 11684. doi: 10.3390/ijms231911684.
24. Glaire MA, Ryan NA, Ijsselsteijn ME et al. Discordant prognosis of mismatch repair deficiency in colorectal and endometrial cancer reflects variation in antitumour immune response and immune escape. J Pathol 2022; 257 (3): 340–351. doi: 10.1002/path.5894.
25. 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. doi: 10.1200/JCO. 21.01874.
26. Konstantinopoulos PA, Gockley AA, Xiong N et al. Evaluation of treatment with talazoparib and avelumab in patients with recurrent mismatch repair proficient endometrial cancer. JAMA Oncol 2022; 8 (9): 1317–1322. doi: 10.1001/jamaoncol.2022.2181.
27. Maio M, Ascierto PA, Manzyuk L et al. Pembrolizumab in microsatellite instability high or mismatch repair deficient cancers: updated analysis from the phase II KEYNOTE-158 study. Ann Oncol 2022; 33 (9): 929–938. doi: 10.1016/ j.annonc.2022.05.519.
28. Zhao S, Chen L, Zang Y et al. Endometrial cancer in Lynch syndrome. Int J Cancer 2022; 150 (1): 7–17. doi: 10.1002/ijc.33763.
29. Chow RD, Michaels T, Bellone S et al. Distinct mechanisms of mismatch-repair deficiency delineate two modes of response to anti-PD-1 immunotherapy in endometrial carcinoma. Cancer Discov 2023; 13 (2): 312–331. doi: 10.1158/2159-8290.CD-22-0686.
30. Kovacevic N. Surgical treatment and fertility perservation in endometrial cancer. Radiol Oncol 2021; 55 (2): 144–149. doi: 10.2478/raon-2021-0009.
31. Tung HJ, Huang HJ, Lai CH. djuvant and post--surgical treatment in endometrial cancer. Best Pract Res Clin Obstet Gynaecol 2022; 78: 52–63. doi: 10.1016/j.bpobgyn.2021.06.002.
32. McAlpine J, Leon-Castillo A, Bosse T. The rise of a novel classification system for endometrial carcinoma; integration of molecular subclasses. J Pathol 2018; 244 (5): 538–549. doi: 10.1002/path.5034.
33. Imboden S, Nastic D, Ghaderi M et al. Phenotype of POLE-mutated endometrial cancer. PLoS One 2019; 14 (3): e0214318. doi: 10.1371/journal.pone.0214318.
ORCID authors
Z. Ballová 0000-0002-0605-948X
P. Gašparová 0000-0002-6354-6911
M. Sitáš 0000-0002-7273-1051
E. Dosedla 0000-0001-8319-9008
Štítky
Dětská gynekologie Gynekologie a porodnictví Reprodukční medicínaČlánek vyšel v časopise
Česká gynekologie
2024 Číslo 2
Nejčtenější v tomto čísle
- Nový staging karcinomu endometria – FIGO 2023
- Využití nitroděložního systému s levonorgestrelem v perimenopauze
- Trofoblastové kmeňové bunky, invázia trofoblastu a organoidy – pokroky v gynekológii
- Hemoragická cievna mozgová príhoda v gravidite