Авторы: Кравцова Е. Д., Каурцева А. С., Раскин Г. А., Мухина М. С.
DOI: https://doi.org/10.17650/2618-7019-2024-7-2-18-24
PDF: https://journal.oncopathology.ru/article/op_2024_2-20-26.pdf
SMARCA 4-дефицитная саркома матки – крайне редкая недифференцированная опухоль с мутацией в гене SMARCA4. В данной работе представлен интересный клинический случай опухоли матки с распространенными метастазами.
Кравцова Е. Д. 1 , Каурцева А. С.1 , Раскин Г. А.1 Мухина М. С.1
1 ООО «ЛДЦ Международного института биологических систем им. Сергея Березина»; Россия, 197758 Санкт-Петербург, п. Песочный, ул. Карла Маркса, 43;
2 ФГБОУ ВО «Санкт-Петербургский государственный университет»; Россия, 199034 Санкт-Петербург, Университетская наб., 7–9
1. Shain A.H., Pollack J.R. The spectrum of SWI/SNF mutations, ubiquitous in human cancers. PLoS One 2013;8(1):e55119. DOI: 10.1371/journal.pone.0055119
2. King H.A., Trotter K.W., Archer T.K. Chromatin remodeling during glucocorticoid receptor regulated transactivation. Biochim Biophys Acta 2012;1819(7):716–26. DOI: 10.1016/j.bbagrm.2012.02.019
3. Conlon N., Silva A., Guerra E. et al. Loss of SMARCA4 expression is both sensitive and specific for the diagnosis of small cell carcinoma of ovary, hypercalcemic type. Am J Surg Pathol 2016;40(3):395–403. DOI: 10.1097/PAS.0000000000000558
4. Sauter J.L., Graham R.P., Larsen B.T. et al. SMARCA4 -deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior. Mod Pathol 2017;30(10):1422–32. DOI: 10.1038/modpathol.2017.61
5. Kolin D.L., Dong F., Baltay M. et al. SMARCA4 -deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma. Mod Pathol 2018;31(9):1442–56. DOI: 10.1038/s41379-018-0049-z
6. Momeni-Boroujeni A., Chiang S. Uterine mesenchymal tumours: recent advances. Histopathology 2020;76(1):64–75. DOI: 10.1111/his.14008
7. Kolin D.L., Quick C.M., Dong F. et al. SMARCA4 -deficient uterine sarcoma and undifferentiated endometrial carcinoma are distinct clinicopathologic entities. Am J Surg Pathol 2020;44(2):263–70. DOI: 10.1097/PAS.0000000000001375
8. Altrabulsi B., Malpica A., Deavers M.T. et al. Undifferentiated carcinoma of the endometrium. Am J Surg Pathol 2005;29(10):1316–21. DOI: 10.1097/01.pas.0000171003.72352.9a
9. Huang Y.L., Ueng S.H., Chen K. et al. Utility of diffusion-weighted and contrast-enhanced magnetic resonance imaging in diagnosing and differentiating between high- and low-grade uterine endometrial stromal sarcoma. Cancer Imaging 2019;19(1):63. DOI: 10.1186/s40644-019-0247-z
10. Huang Y.T., Huang Y.L., Ng K.K., Lin G. Current status of magnetic resonance imaging in patients with malignant uterine neoplasms: a review. Korean J Radiol 2019;20(1):18–33. DOI: 10.3348/kjr.2018.0090
11. Schaefer I.M., Agaimy A., Fletcher C.D., Hornick J.L. Claudin-4 expression distinguishes SWI/SNF complex-deficient undifferentiated carcinomas from sarcomas. Mod Pathol 2017;30(4):539–48. DOI: 10.1038/modpathol.2016.230
12. Aden D., Zaheer S., Singh S., Ranga S. Epithelioid leiomyosarcoma of the uterus and the diagnostic challenge in diagnosing it on small biopsy. J Midlife Health 2022;13(3): 241–3. DOI: 10.4103/jmh.jmh_36_22
13. Thiel F.C., Halmen S. Low-grade endometrial stromal sarcoma – a review. Oncol Res Treat 2018;41(11):687–92. DOI: 10.1159/000494225
14. Capozzi V.A., Monfardini L., Ceni V. et al. Endometrial stromal sarcoma: a review of rare mesenchymal uterine neoplasm. J Obstet Gynaecol Res 2020;46(11):2221–36. DOI: 10.1111/jog.14436
15. Kechagias K.S., Zafeiri M., Katsikas Triantafyllidis K. et al. Primary melanoma of the cervix uteri: a systematic review and meta-analysis of the reported cases. Biology (Basel) 2023;12(3):398. DOI: 10.3390/biology12030398
16. Conlon N., Soslow R.A., Murali R. Perivascular epithelioid tumours (PEComas) of the gynaecological tract. J Clin Pathol 2015;68(6):418–26. DOI: 10.1136/jclinpath-2015-202945
17. Callegaro-Filho D., Gershenson D.M., Nick A.M. et al. Small cell carcinoma of the ovary-hypercalcemic type (SCCOHT): a review of 47 cases. Gynecol Oncol 2016;140(1):53–7. DOI: 10.1016/j.ygyno.2015.11.004
18. Young R.H., Oliva E., Scully R.E. Small cell carcinoma of the ovary, hypercalcemic type. A clinicopathological analysis of 150 cases. Am J Surg Pathol 1994;18(11):1102–16. DOI: 10.1097/00000478-199411000-00004
19. Li R., Zhou T., Chen S. et al. Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT): a challenge for clinicopathological diagnosis. Int J Clin Exp Pathol 2019;12(6):2166–72
20. Kwon H.J., Jang M.H. SMARCA4 -deficient undifferentiated thoracic tumor: a case report. World J Clin Cases 2023;11(11):2521–7. DOI: 10.12998/wjcc.v11.i11.2521
21. Roden A.C. Thoracic SMARCA4 -deficient undifferentiated tumor – a case of an aggressive neoplasm – case report. Mediastinum 2021;5:39. DOI: 10.21037/med-20-15
22. Rekhtman N., Montecalvo J., Chang J.C. et al. SMARCA4 -deficient thoracic sarcomatoid tumors represent primarily smoking-related undifferentiated carcinomas rather than primary thoracic sarcomas. J Thorac Oncol 2020;15(2):231–47. DOI: 10.1016/j.jtho.2019.10.023
23. Yoshida A., Kobayashi E., Kubo T. et al. Clinicopathological and molecular characterization of SMARCA4 -deficient thoracic sarcomas with comparison to potentially related entities. Mod Pathol 2017;30(6):797–809. DOI: 10.1038/modpathol.2017.11
24. Dagogo-Jack I., Schrock A.B., Kem M. et al. Clinicopathologic characteristics of BRG1-deficient NSCLC. J Thorac Oncol 2020;15(5):766–76. DOI: 10.1016/j.jtho.2020.01.002
25. Connor Y.D., Miao D., Lin D.I. et al. Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4 -deficient undifferentiated uterine sarcoma: clinical features of a single family and comparison of large cohorts. Gynecol Oncol 2020;157(1):106–14. DOI: 10.1016/j.ygyno.2019.10.031
26. Chan-Penebre E., Armstrong K., Drew A. et al. Selective killing of SMARCA2 - and SMARCA4 -deficient small cell carcinoma of the ovary, hypercalcemic type cells by inhibition of EZH2: in vitro and in vivo preclinical models. Mol Cancer Ther 2017;16(5): 850–60. DOI: 10.1158/1535-7163.MCT-16-0678
27. Jelinic P., Ricca J., Van Oudenhove E. et al. Immune-active microenvironment in small cell carcinoma of the ovary, hypercalcemic type: rationale for immune checkpoint blockade. J Natl Cancer Inst 2018;110(7):787–90. DOI: 10.1093/jnci/djx277
Авторы заявляют об отсутствии конфликта интересов.
Работа выполнена без спонсорской поддержки.
Кравцова Е. Д., Каурцева А. С., Раскин Г. А., Мухина М. С. SMARCA4-дефицитная недифференцированная саркома матки. Онкопатология 2024;7(2):18–24. DOI: https://doi.org/10.17650/2618-7019-2024-7-2-18-24
|
2024 №3 (Том 7) Скачать>> |