Epiteloid Anjiomyolipom (Epiteloid Pecoma)
Özet
Epiteloid anjiyomiyolipom (EAML), epiteloid PEComa olarak da adlandırılan, hücrelerinin en az %80’i epiteloid morfoloji gösteren, anjiyomiyolipomun nadir ve malign bir varyantıdır. Sporadik olarak gelişebileceği gibi tüberoskleroz kompleksi (TSK) ile ilişkili de olabilir. Patogenezde, 16p13 kromozomundaki TSC2 geninde biallelik inaktivasyon sonucu mTOR yolağının aktivasyonu meydana gelir ve bu durum kontrolsüz hücresel proliferasyona yol açar. Bazı olgularda TFE3 geninde yeniden düzenlenme veya amplifikasyon izlenir ve bu durum daha agresif klinik seyirle ilişkilidir. EAML genellikle yaşamın beşinci dekadında ortaya çıkar ve kadın-erkek oranı eşittir. Tümörler genellikle büyük, solid ve hemorajiktir, sıklıkla nekroz gösterir. Mikroskopik olarak iki büyüme paterni tanımlanır: Karsinom benzeri patern (Patern A) — pleomorfik epiteloid hücreler, belirgin nükleoller ve ganglion benzeri dev hücreler içerir — ve diffüz patern (Patern B) — uniform epiteloid veya dolgun iğsi hücrelerden oluşur. İmmünohistokimyasal olarak tümör hücreleri HMB45, Melan-A, MITF, Katepsin K ve SMA pozitiftir; keratin ve PAX8 ekspresyonu göstermez. EAML malignite potansiyeline sahiptir; olguların %23–35’inde lokal ileri hastalık ve yaklaşık %49’unda metastaz (en sık karaciğer, akciğer ve periton) bildirilmiştir. Tedavi, cerrahi rezeksiyon (parsiyel veya radikal nefrektomi) ve rezeksiyon yapılamayan olgularda mTOR inhibitörlerinin kullanımını içerir. Prognoz; nekroz varlığı, mitotik aktivite ve TFE3 değişiklikleriyle ilişkilidir.
Referanslar
WHO Classification of Tumours Editorial Board. Urinary and Male Genital Tumours [Internet]. Lyon (France): International Agency for Research on Cancer. Available from: Https://Tumourclassification.Iarc.Who.Int/Chapters/36. Vol 8. 5th ed.; 2022.
Yang J, Liang C, Yang L. Advancements in the diagnosis and treatment of renal epithelioid angiomyolipoma: A narrative review. Kaohsiung J Med Sci. 2022;38(10):925-932. doi:10.1002/kjm2.12586
Pan C, Chung M, Ng K, et al. Constant allelic alteration on chromosome 16p ( TSC2 gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma. J Pathol. 2008;214(3):387-393. doi:10.1002/path.2289
Wang H, Zhan H, Yao Z, Liu Q. Malignant renal epithelioid angiomyolipoma with TFE3 gene amplification mimicking renal carcinoma. Clin Nephrol – Case Stud. 2018;6(01):11-15. doi:10.5414/CNCS109443
Wang X tong, Xia Q yuan, Ye S bing, et al. RNA sequencing of Xp11 translocation-associated cancers reveals novel gene fusions and distinctive clinicopathologic correlations. Mod Pathol. 2018;31(9):1346-1360. doi:10.1038/s41379-018-0051-5
He W, Cheville JC, Sadow PM, et al. Epithelioid angiomyolipoma of the kidney: pathological features and clinical outcome in a series of consecutively resected tumors. Mod Pathol. 2013;26(10):1355-1364. doi:10.1038/modpathol.2013.72
Brimo F, Robinson B, Guo C, Zhou M, Latour M, Epstein JI. Renal Epithelioid Angiomyolipoma With Atypia: A Series of 40 Cases With Emphasis on Clinicopathologic Prognostic Indicators of Malignancy. Am J Surg Pathol. 2010;34(5):715-722. doi:10.1097/PAS.0b013e3181d90370
Nese N, Martignoni G, Fletcher CD, et al. Pure Epithelioid PEComas (So-Called Epithelioid Angiomyolipoma) of the Kidney. Am J Surg Pathol. 2011;35(2):161-176. doi:10.1097/PAS.0b013e318206f2a9
Wang P, He J, Wan X, Ren P, Tang K. Clinical challenges and management of primary renal epithelioid angiomyolipoma of duplex kidney with paraneoplastic syndrome. J Int Med Res. 2021;49(7). doi:10.1177/03000605211032493
Cong X, Zhang J, Xu X, Zhang M, Chen Y. Renal epithelioid angiomyolipoma: magnetic resonance imaging characteristics. Abdom Radiol. 2018;43(10):2756-2763. doi:10.1007/s00261-018-1548-6
Folpe AL, Mentzel T, Lehr H-A, Fisher C, Balzer BL, Weiss SW. Perivascular Epithelioid Cell Neoplasms of Soft Tissue and Gynecologic Origin. Am J Surg Pathol. 2005;29(12):1558-1575. doi:10.1097/01.pas.0000173232.22117.37
Lei JH, Liu LR, Wei Q, et al. A Four-Year Follow-up Study of Renal Epithelioid Angiomyolipoma: A Multi-Center Experience and Literature Review. Sci Rep. 2015;5(1):10030. doi:10.1038/srep10030
Liu F, Yuan H, Li X, Tang J, Tian X, Ji K. A new management strategy for renal angiomyolipomas: superselective arterial embolization in combination with radiofrequency ablation. Ann Transl Med. 2019;7(23):766-766. doi:10.21037/atm.2019.11.63
Sanfilippo R, Jones RL, Blay J-Y, et al. Role of Chemotherapy, VEGFR Inhibitors, and mTOR Inhibitors in Advanced Perivascular Epithelioid Cell Tumors (PEComas). Clin Cancer Res. 2019;25(17):5295-5300. doi:10.1158/1078-0432.CCR-19-0288
Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: Extension of a randomized controlled trial. Nephrol Dial Transplant. 2016;31(1):111-119. doi:10.1093/ndt/gfv249
Saoud R, Kristof TW, Judge C, et al. Clinical and pathological features of renal epithelioid angiomyolipoma (PEComa): A single institution series. Urol Oncol Semin Orig Investig. 2022;40(2):18-24. doi:10.1016/j.urolonc.2021.09.010
Liapi A, Mathevet P, Herrera FG, Hastir D, Sarivalasis A. VEGFR Inhibitors for Uterine Metastatic Perivascular Epithelioid Tumors (PEComa) Resistant to mTOR Inhibitors. A Case Report and Review of Literature. Front Oncol. 2021;11(March):1-7. doi:10.3389/fonc.2021.641376
Xu J, Gong X-L, Wu H, Zhao L. Case Report: Gastrointestinal PEComa With TFE3 Rearrangement Treated With Anti-VEGFR TKI Apatinib. Front Oncol. 2020;10(November):1-6. doi:10.3389/fonc.2020.582087
Mete O, Van Der Kwast TH. Epithelioid angiomyolipoma a morphologically distinct variant that mimics a variety of intra-abdominal neoplasms. Arch Pathol Lab Med. 2011;135(5):665-670. doi:10.5858/2009-0637-rsr.1
Zavala-Pompa A, Folpe AL, Jimenez RE, et al. Immunohistochemical Study of Microphthalmia Transcription Factor and Tyrosinase in Angiomyolipoma of the Kidney, Renal Cell Carcinoma, and Renal and Retroperitoneal Sarcomas. Am J Surg Pathol. 2001;25(1):65-70. doi:10.1097/00000478-200101000-00007
Martignoni G, Bonetti F, Chilosi M, et al. Cathepsin K expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney. Mod Pathol. 2012;25(1):100-111. doi:10.1038/modpathol.2011.136
Gulavita P, Fletcher CDM, Hirsch MS. PNL2: an adjunctive biomarker for renal angiomyolipomas and perivascular epithelioid cell tumours. Histopathology. 2018;72(3):441-448. doi:10.1111/his.13369
Bing Z, Yao Y, Pasha T, Tomaszewski JE, Zhang PJ. p53 in Pure Epithelioid PEComa. Int J Surg Pathol. 2012;20(2):113-120. doi:10.1177/1066896912441829
Ohe C, Kuroda N, Hes O, et al. A renal epithelioid angiomyolipoma/perivascular epithelioid cell tumor with TFE3 gene break visualized by FISH. Med Mol Morphol. 2012;45(4):234-237. doi:10.1007/s00795-012-0584-5
Yumuşak Doku Tümörleri. Accessed December 11, 2020. https://www.kongrekitabevi.com/yumusak-doku-tumorleri
Argani P, Aulmann S, Illei PB, et al. A Distinctive Subset of PEComas Harbors TFE3 Gene Fusions. Am J Surg Pathol. 2010;34(10):1395-1406. doi:10.1097/PAS.0b013e3181f17ac0
Rammal R, Korentzelos D, Skaugen JM, Quiroga-Garza GM. Molecular Characterization of Malignant Renal Epithelioid Angiomyolipoma: A Review of Two Cases. Am J Clin Pathol. 2023;159(3):211-220. doi:10.1093/ajcp/aqac152
Caliò A, Brunelli M, Gobbo S, et al. Cathepsin K: A Novel Diagnostic and Predictive Biomarker for Renal Tumors. Cancers (Basel). 2021;13(10):2441. doi:10.3390/cancers13102441
Caliò A, Brunelli M, Segala D, et al. Comprehensive analysis of 34 MiT family translocation renal cell carcinomas and review of the literature: investigating prognostic markers and therapy targets. Pathology. 2020;52(3):297-309. doi:10.1016/j.pathol.2019.11.006
Caliò A, Brunelli M, Segala D, et al. Angiomyolipoma of the kidney: from simple hamartoma to complex tumour. Pathology. 2021;53(1):129-140. doi:10.1016/j.pathol.2020.08.008
