Presentation

  • Patient

    Generally appears during middle age, with a female predominance3

  • Microscope

    Consists of epithelioid cells that are associated with blood vessel walls and usually express both melanocytic and smooth muscle markers4

  • Map marker

    Malignant PEComas demonstrate local invasion and/or metastatic spread1

  • Earth

    Globally, ≤1 diagnosis per 1,000,000 people annually5

May appear anywhere in the body, most frequently at visceral, retroperitoneal, and abdominopelvic sites.3,6-8*

PEcoma sites

*Based on number of cases in AACR Project Genomics Evidence Neoplasia Information Exchange (GENIE), an international pan-cancer registry of real-world data assembled through data sharing between 19 leading international cancer centers with the goal of improving clinical decision-making.8

Diagnosis

Misdiagnosis may occur due to overlapping immunohistochemical and cytogenetic markers with other sarcomas and solid tumors1,2,9

Misdiagnoses may include1,2,9

— GIST
— RCC
— Leiomyosarcoma

— Malignant melanoma
— Unclassified pleomorphic sarcoma
— Rhabdomyosarcoma

Prognosis

Advanced malignant PEComa is associated with a poor prognosis10

Up to 72% of patients with malignant PEComas develop metastatic disease within 12 months1,9

Median survival in advanced malignant (metastatic or unresectable) PEComa is estimated at 16 months4†

The Role of mTOR

PEcoma cell

The Role of mTOR

  • Advanced malignant PEComa is primarily an mTOR-driven disease1
  • Overactivation of the mTOR pathway leads to uncontrolled cell growth and survival1,11
  • PEComas commonly have loss-of-function mutations or deletions of TSC1 or TSC2, leading to mTOR pathway overactivation1

Median survival of 16 months reflects data gathered from (N=7) patients who succumbed to disease with unresectable or metastatic malignant PEComa. Analysis was sourced from reported cases found in a literature review via a search of the PubMed database.4

GIST=gastrointestinal stromal tumor; mTOR=mechanistic target of rapamycin; RCC=renal cell carcinoma; TSC1=tuberous sclerosis-1; TSC2=tuberous sclerosis-2.

References: 1. Ben-Ami E, Hornick JL, Wagner H, Wagner AJ. The potential of emerging new therapeutics for the treatment of perivascular epithelioid cell tumors (PEComa). Expert Opin Orphan Drugs. 2018;6(9):537-543. doi:10.1080/21678707.2018.1493376 2. Chen Z, Han S, Wu J, et al. A systematic review: perivascular epithelioid cell tumor of gastrointestinal tract. Medicine (Baltimore). 2016;95(28):e3890. doi:10.1097/MD.0000000000003890 3. Sanfilippo R, Jones RL, Blay JY, 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 4. 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 5. Stacchiotti S, Frezza AM, Blay JY, et al. Ultra-rare sarcomas: a consensus paper from the Connective Tissue Oncology Society community of experts on the incidence threshold and the list of entities. Cancer. 2021;127(16):2934-2942. doi:10.1002/cncr.33618 6. TSC1. My Cancer Genome. Accessed July 29, 2022. https://www.mycancergenome.org/content/gene/TSC1/ 7. TSC2. My Cancer Genome. Accessed July 29, 2022. https://www.mycancergenome.org/content/gene/TSC2/ 8. GENIE. National Cancer Institute. Accessed July 29, 2022. https://gdc.cancer.gov/about-gdc/contributed-genomic-data-cancer-research/genie 9. Tirumani SH, Shinagare AB, Hargreaves J, et al. Imaging features of primary and metastatic malignant perivascular epithelioid cell tumors. AJR Am J Roentgenol. 2014;202(2):252-258. doi:10.2214/AJR.13.10909 10. Armah HB, Parwani AV. Perivascular epithelioid cell tumor. Arch Pathol Lab Med. 2009;133(4):648-654. doi:10.5858/133.4.648 11. Gonzalez-Angulo AM, Meric-Bernstam F, Chawla S, et al. Weekly nab-rapamycin in patients with advanced nonhematologic malignancies: final results of a phase I trial. Clin Cancer Res. 2013;19(19):5474-5484. doi:10.1158/1078-0432.CCR-12-3110