Management Strategies for Adults with Locally Advanced, Unresectable or Metastatic Malignant Perivascular Epithelioid Cell Tumor (PEComa): Challenges and Solutions

References

• Klimczak A, Pękul M, Wiater K, Rutkowski P. PEComa – grupa rzadkich nowotworów pochodzenia mezenchymalnego. Nowotwory J Oncol. 2011;61(1):52.
   Google Scholar
• Sobiborowicz A, Czarnecka AM, Szumera-Ciećkiewicz A, Rutkowski P, Świtaj T. Diagnosis and treatment of angiomyolipoma (AML) tumours. Oncol Clin Pract. 2020;16(3):116–132. doi:10.5603/OCP.2020.0008
   Web of Science ®Google Scholar
• Fittschen A, Wendlik I, Oeztuerk S, et al. Prevalence of sporadic renal angiomyolipoma: a retrospective analysis of 61,389 in- and out-patients. Abdom Imaging. 2014;39(5):1009–1013. doi:10.1007/s00261-014-0129-6
   PubMedGoogle Scholar
• Słowińska M, Jóźwiak S, Peron A, et al. Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures. Orphanet J Rare Dis. 2018;13(1):25. doi:10.1186/s13023-018-0764-z
   PubMedGoogle Scholar
• Seeber A, Holzer L, Elliott A, et al. Deciphering the molecular landscape and the tumor microenvironment of perivascular epithelioid cell neoplasma (PEComa). J Clin Oncol. 2021;39(15_suppl):11539. doi:10.1200/JCO.2021.39.15_suppl.11539
   Web of Science ®Google Scholar
• Tsuda M, Davis IJ, Argani P, et al. TFE3 fusions activate MET signaling by transcriptional up-regulation, defining another class of tumors as candidates for therapeutic MET inhibition. Cancer Res. 2007;67(3):919–929. doi:10.1158/0008-5472.CAN-06-2855
   PubMed Web of Science ®Google Scholar
• Szumera-Cieækiewicz A, Kuczkiewicz-Siemion O, Seliga K, et al. Pigmented/melanocytic malignant perivascular epithelioid cell tumor with TFE3-SFPQ(PSF) rearrangement – a challenging diagnosis of PEComa family of tumors. Pol J Pathol. 2019;70(4):317–322. doi:10.5114/pjp.2019.93136
   PubMed Web of Science ®Google Scholar
• Bissler JJ, Christopher Kingswood J. Renal manifestation of tuberous sclerosis complex. Am J Med Genet C Semin Med Genet. 2018;178(3):338–347. doi:10.1002/ajmg.c.31654
   PubMed Web of Science ®Google Scholar
• Aydin H, Magi-Galluzzi C, Lane BR, et al. Renal angiomyolipoma: clinicopathologic study of 194 cases with emphasis on the epithelioid histology and tuberous sclerosis association. Am J Surg Pathol. 2009;33(2):289–297. doi:10.1097/PAS.0b013e31817ed7a6
   PubMed Web of Science ®Google Scholar
• Lee W, Choi SY, Lee C, et al. Does epithelioid angiomyolipoma have poorer prognosis, compared with classic angiomyolipoma? Investig Clin Urol. 2018;59(6):357–362. doi:10.4111/icu.2018.59.6.357
   PubMed Web of Science ®Google Scholar
• Zizzo M, Ugoletti L, Tumiati D, et al. Primary pancreatic perivascular epithelioid cell tumor (PEComa): a surgical enigma. A systematic review of the literature. Pancreatology. 2018;18(3):238–245. doi:10.1016/j.pan.2018.02.007
   PubMed Web of Science ®Google Scholar
• Bleeker JS, Quevedo JF, Folpe AL. ”Malignant” perivascular epithelioid cell neoplasm: risk stratification and treatment strategies. Sarcoma. 2012;2012:541626. doi:10.1155/2012/541626
   PubMedGoogle Scholar
• Kiefer J, Mutschler M, Kurz P, et al. Accuracy of core needle biopsy for histologic diagnosis of soft tissue sarcoma. Sci Rep. 2022;12(1):1886. doi:10.1038/s41598-022-05752-4
   PubMed Web of Science ®Google Scholar
• Bourgmayer A, Nannini S, Bonjean P, Kurtz JE, Malouf GG, Gantzer J. Natural history and treatment strategies of advanced PEComas: a systematic review. Cancers. 2021;13(20):5227. doi:10.3390/cancers13205227
   PubMed Web of Science ®Google Scholar
• Folpe AL, Kwiatkowski DJ. Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol. 2010; 41(1):1–15. doi:10.1016/j.humpath.2009.05.011
   PubMed Web of Science ®Google Scholar
• Liu L, Dehner C, Grandhi N, et al. The Impact of TSC-1 and −2 mutations on response to therapy in malignant PEComa: a multicenter retrospective analysis. Genes. 2022;13(11):1932. doi:10.3390/genes13111932
   PubMed Web of Science ®Google Scholar
• Malinowska I, Kwiatkowski DJ, Weiss S, Martignoni G, Netto G, Argani P. Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction. Am J Surg Pathol. 2012;36(5):783–784. doi:10.1097/PAS.0b013e31824a8a37
   PubMed Web of Science ®Google Scholar
• Schmiester M, Dolnik A, Kornak U, et al. TFE3 activation in a TSC1-altered malignant PEComa: challenging the dichotomy of the underlying pathogenic mechanisms. J Pathol. 2021;7(1):3–9. doi:10.1002/cjp2.187
   Web of Science ®Google Scholar
• Giannikou K, Azim -A-A, Adib E, et al. Distinct oncogenic signatures in malignant PEComa and leiomyosarcoma identified by integrative RNA-seq and H3K27ac ChIP-seq analysis. J Clin Oncol. 2022;40(16_suppl):11552. doi:10.1200/JCO.2022.40.16_suppl.11552
   Web of Science ®Google Scholar
• D’Andrea D, Hanspeter E, D’Elia C, Martini T, Pycha A. Malignant perivascular epithelioid cell neoplasm (PEComa) of the pelvis: a case report. Urol Case Rep. 2016;6:36–38. doi:10.1016/j.eucr.2016.02.004
   PubMedGoogle Scholar
• Casali PG, Abecassis N, Aro HT, et al. Soft tissue and visceral sarcomas: ESMO-EURACAN clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2018;29(Suppl 4):iv51–iv67. doi:10.1093/annonc/mdy096
   PubMed Web of Science ®Google Scholar
• Sobiborowicz A, Świtaj T, Teterycz P, et al. Feasibility and long-term efficacy of PEComa Treatment—20 years of experience. J Clin Med. 2021;10(10):2200. doi:10.3390/jcm10102200
   PubMed Web of Science ®Google Scholar
• Chen Z, Han S, Wu J, et al. A systematic review: perivascular epithelioid cell tumor of gastrointestinal tract. Medicine. 2016;95(28):e3890. doi:10.1097/MD.0000000000003890
   PubMed Web of Science ®Google Scholar
• Mazeron JJ, Suit HD. Lymph nodes as sites of metastases from sarcomas of soft tissue. Cancer. 1987;60(8):1800–1808. doi:10.1002/1097-0142(19871015)60:8<1800::AID-CNCR2820600822>3.0.CO;2-N
   PubMed Web of Science ®Google Scholar
• Dudek W, Schreiner W, Mykoliuk I, Higaze M, Sirbu H. Pulmonary metastasectomy for sarcoma—survival and prognostic analysis. J Thorac Dis. 2019;11(8):3369–3376. doi:10.21037/jtd.2019.08.10
   PubMed Web of Science ®Google Scholar
• Sugarbaker PH. Long-term survival is possible using cytoreductive surgery plus HIPEC for sarcomatosis—Case report of 2 patients. Int J Surg Case Rep. 2019;64:10–14. doi:10.1016/j.ijscr.2019.09.009
   PubMed Web of Science ®Google Scholar
• Bhanushali AH, Dalvi AN, Bhanushali HS. Laparoscopic excision of infra-renal PEComa. J Minim Access Surg. 2015;11(4):282–284. doi:10.4103/0972-9941.166439
   PubMed Web of Science ®Google Scholar
• Lin K-H, Chang N-J, Liou L-R, M-S S, Tsao M-J, Huang M-L. Successful management of perivascular epithelioid cell tumor of the rectum with recurrent liver metastases. Medicine. 2018;97(31):e11679. doi:10.1097/MD.0000000000011679
   PubMed Web of Science ®Google Scholar
• Stamenovic D, Hohenberger P, Roessner E. Pulmonary metastasectomy in soft tissue sarcomas: a systematic review. J Thorac Dis. 2021;13(4):2649–2660. doi:10.21037/jtd-2019-pm-13
   PubMed Web of Science ®Google Scholar
• Machado I, Cruz J, Lavernia J, Rayon JM, Poveda A, Llombart-Bosch A. Malignant PEComa with metastatic disease at diagnosis and resistance to several chemotherapy regimens and targeted therapy (m-TOR Inhibitor). Int J Surg Pathol. 2017;25(6):543–549. doi:10.1177/1066896917701245
   PubMed Web of Science ®Google Scholar
• Kirste S, Kayser G, Zipfel A, Grosu A-L, Brunner T. Unresectable hepatic PEComa: a rare malignancy treated with stereotactic body radiation therapy (SBRT) followed by complete resection. Radiat Oncol. 2018;13:28. doi:10.1186/s13014-018-0974-5
   PubMed Web of Science ®Google Scholar
• Armah HB, Parwani AV. Perivascular epithelioid cell tumor. Arch Pathol Lab Med. 2009;133(4):648–654. doi:10.5858/133.4.648
   PubMed Web of Science ®Google Scholar
• Liu J-L, Lin Y-M, Lin M-C, Yeh K-T, Hsu J-C, Chen C-J. Perivascular epithelioid cell tumor (PEComa) of the uterus with aggressive behavior at presentation. Hematol Oncol Stem Cell Ther. 2009;2(3):426–430. doi:10.1016/S1658-3876(09)50013-1
   PubMedGoogle Scholar
• Scheppach W, Reissmann N, Sprinz T, Schippers E, Schoettker B, Mueller JG. PEComa of the colon resistant to sirolimus but responsive to doxorubicin/ifosfamide. World J Gastroenterol. 2013;19(10):1657–1660. doi:10.3748/wjg.v19.i10.1657
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Hindi N, Sanfilippo R, Stacchiotti S, et al. 1450P - systemic therapy in perivascular epithelioid cell tumors (Pecoma). Ann Oncol. 2014;25:iv506. doi:10.1093/annonc/mdu354.39
   Google Scholar
• Raimondi A, Colombo F, Pintarelli G, et al. Prolonged activity and toxicity of sirolimus in a patient with metastatic renal perivascular epithelioid cell tumor: a case report and literature review. Anticancer Drugs. 2018;29(6):589–595. doi:10.1097/CAD.0000000000000634
   PubMed Web of Science ®Google Scholar
• Gondran H, Thebaud E, Moreau A, et al. First pancreatic perivascular epithelioid cell tumor (PEComa) treated by mTOR inhibitor. Pancreatology. 2019;19(4):566–568. doi:10.1016/j.pan.2019.05.459
   PubMed Web of Science ®Google Scholar
• Tang S-H, Liu Y-C, Hsiao -H-H, et al. Huge soft tissue PEComa with aggressive lung and bone metastases. J Cancer Res Pract. 2017;4(3):115–118. doi:10.1016/j.jcrpr.2017.04.001
   Google Scholar
• Starbuck KD, Drake RD, Budd GT, Rose PG. Treatment of advanced malignant uterine perivascular epithelioid cell tumor with mTOR inhibitors: single-institution experience and review of the literature. Anticancer Res. 2016;36(11):6161–6164. doi:10.21873/anticanres.11208
   PubMed Web of Science ®Google Scholar
• Benson C, Vitfell-Rasmussen J, Maruzzo M, et al. A retrospective study of patients with malignant PEComa receiving treatment with sirolimus or temsirolimus: the Royal Marsden Hospital experience. Anticancer Res. 2014;34(7):3663–3668.
   PubMed Web of Science ®Google Scholar
• Weeber F, Koudijs MJ, Hoogstraat M, et al. Effective therapeutic intervention and comprehensive genetic analysis of mTOR signaling in PEComa: a case report. Anticancer Res. 2015;35(6):3399–3403.
   PubMed Web of Science ®Google Scholar
• Gennatas C, Michalaki V, Kairi PV, Kondi-Paphiti A, Voros D. Successful treatment with the mTOR inhibitor everolimus in a patient with perivascular epithelioid cell tumor. World J Surg Oncol. 2012;10:181. doi:10.1186/1477-7819-10-181
   PubMed Web of Science ®Google Scholar
• Chen S-C, Yang C-W, Yen -C-C, Tseng C-H, Chao T-C. Perivascular Epithelioid Cell Tumors (PEComas) Refractory to mTOR Inhibitors. J Cancer Res Pract. 2014;1(2):128–133.
   Google Scholar
• Italiano A, Delcambre C, Hostein I, et al. Treatment with the mTOR inhibitor temsirolimus in patients with malignant PEComa. Ann Oncol. 2010;21(5):1135–1137. doi:10.1093/annonc/mdq044
   PubMed Web of Science ®Google Scholar
• Bunch K, Sunde J. Fertility sparing treatment of a malignant uterine perivascular epithelioid cell tumor: a case report. Gynecol Oncol Case Rep. 2014;8:14–16. doi:10.1016/j.gynor.2014.01.001
   PubMedGoogle Scholar
• Wagner AJ, Ravi V, Riedel RF, et al. nab-sirolimus for patients with malignant perivascular epithelioid cell tumors. J Clin Oncol. 2021;39(33):3660–3670. doi:10.1200/JCO.21.01728
   PubMed Web of Science ®Google Scholar
• Osei DA, Alvandi F, Brooks JS, Ogilvie CM. PEComa of the upper extremity: a unique case and description of an initial response to neoadjuvant chemotherapy. Sarcoma. 2007;2007:53056. doi:10.1155/2007/53056
   PubMedGoogle Scholar
• Flechter E, Zohar Y, Guralnik L, Passhak M, Sela GB. Long-lasting stable disease with mTOR inhibitor treatment in a patient with a perivascular epithelioid cell tumor: a case report and literature review. Oncol Lett. 2016;12(6):4739–4743. doi:10.3892/ol.2016.5231
   PubMed Web of Science ®Google Scholar
• Alnajar H, Brickman A, Buckingham L, Arvanitis LD. Metastatic malignant PEComa of the leg with identification of ATRX mutation by next-generation sequencing. Virchows Arch. 2018;472(3):499–503. doi:10.1007/s00428-017-2208-x
   PubMed Web of Science ®Google Scholar
• 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;10:10. doi:10.3389/fonc.2020.00010
   PubMed Web of Science ®Google Scholar
• Rutkowski P, Przybył J, Świtaj T. Genetics of rare mesenchymal tumors: implications for targeted treatment in DFSP, ASPS, CCS, GCTB and PEComa. Int J Biochem Cell Biol. 2014;53:466–474. doi:10.1016/j.biocel.2014.03.024
   PubMed Web of Science ®Google Scholar
• Doyle LA, Hornick JL, Fletcher CDM. PEComa of the gastrointestinal tract: clinicopathologic study of 35 cases with evaluation of prognostic parameters. Am J Surg Pathol. 2013;37(12):1769–1782. doi:10.1097/PAS.0b013e31829caab3
   PubMed Web of Science ®Google Scholar
• Huľová S, Sycova-Mila Z, Macák D, et al. Dia-gnostic challenges and extraordinary treatment response in rare malignant PEComa tumor of the kidney. Klin Onkol. 2018;31(6):448–452. doi:10.14735/amko2018448
   PubMedGoogle Scholar
• Robles NR, Peces R, Gómez-Ferrer Á, et al. Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial. Orphanet J Rare Dis. 2016;11:128. doi:10.1186/s13023-016-0517-9
   PubMed Web of Science ®Google Scholar
• Purwar R, Soni K, Shukla M, Verma A, Kumar T, Pandey M. TFE3-associated perivascular epithelioid cell tumor with complete response to mTOR inhibitor therapy: report of first case and literature review. World J Surg Oncol. 2022;20(1):62. doi:10.1186/s12957-021-02462-5
   PubMed Web of Science ®Google Scholar
• Sobiborowicz A, Czarnecka AM, Szumera-Ciećkiewicz A, Rutkowski P, Świtaj T. Diagnosis and treatment of malignant PEComa tumours. Oncol Clin Pract. 2020;16(1):22–33. doi:10.5603/OCP.2020.0003
   Web of Science ®Google Scholar
• Gu L, Peng C, Zhang F, Fang C, Guo G. Sequential everolimus for angiomyolipoma associated with tuberous sclerosis complex: a prospective cohort study. Orphanet J Rare Dis. 2021;16(1):277. doi:10.1186/s13023-021-01913-2
   PubMed Web of Science ®Google Scholar
• Goldberg HJ, Harari S, Cottin V, et al. Everolimus for the treatment of lymphangioleiomyomatosis: a Phase II study. Eur Respir J. 2015;46(3):783–794. doi:10.1183/09031936.00210714
   PubMed Web of Science ®Google Scholar
• Dickson MA, Ravi V, Riedel RF, et al. nab-Sirolimus for patients with advanced malignant PEComa with or without prior mTOR inhibitors: biomarker results from AMPECT and an expanded access program. J Clin Oncol. 2022;40(16_suppl):11574. doi:10.1200/JCO.2022.40.16_suppl.11574
   Web of Science ®Google Scholar
• Wagner AJ, Ravi V, Riedel RF, et al. Long-term follow-up for duration of response (DoR) after weekly nab -sirolimus in patients with advanced malignant perivascular epithelioid cell tumors (PEComa): results from a registrational open-label phase II trial, AMPECT. J Clin Oncol. 2020;38:11516. doi:10.1200/JCO.2020.38.15_suppl.11516
   Web of Science ®Google Scholar
• Zhong J, Hu Y, Si L, et al. Primary perivascular epithelioid cell tumor (PEComa) in bone: a review of the literature and a case arising in the humerus with multiple metastases. J Bone Oncol. 2021;26:100336. doi:10.1016/j.jbo.2020.100336
   PubMed Web of Science ®Google Scholar
• McBride A, Garcia AJ, Sanders LJ, et al. Sustained response to pembrolizumab in recurrent perivascular epithelioid cell tumor with elevated expression of programmed death ligand: a case report. J Med Case Rep. 2021;15(1):400. doi:10.1186/s13256-021-02997-x
   PubMedGoogle Scholar
• Lattanzi M, Deng FM, Chiriboga LA, et al. Durable response to anti-PD-1 immunotherapy in epithelioid angiomyolipoma: a report on the successful treatment of a rare malignancy. J Immunother Cancer. 2018;6(1):97. doi:10.1186/s40425-018-0415-x
   PubMedGoogle Scholar
• D’Angelo SP, Mahoney MR, Van Tine BA, et al. Nivolumab with or without ipilimumab treatment for metastatic sarcoma (Alliance A091401): two open-label, non-comparative, randomised, Phase 2 trials. Lancet Oncol. 2018;19(3):416–426. doi:10.1016/S1470-2045(18)30006-8
   PubMed Web of Science ®Google Scholar