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PEComa is a rare tumour, grouped with the sarcomas, of cells that sit around blood vessels and share features of muscle and pigment cells. Most are benign, but malignant ones spread and resist chemotherapy. They usually have lost the TSC1 or TSC2 brake on the growth signal mTOR, and in 2021 the mTOR blocker nab-sirolimus became the first approved treatment.
Perivascular epithelioid cell tumours express both smooth muscle and melanocytic markers (HMB-45, Melan-A) and include renal angiomyolipoma, pulmonary lymphangioleiomyomatosis and clear cell sugar tumour of the lung as well as PEComa not otherwise specified of the uterus, retroperitoneum, gastrointestinal tract and soft tissue. Most carry biallelic loss of TSC1 or TSC2, with or without tuberous sclerosis complex, which unleashes mTOR signalling; a minority instead carry TFE3 fusions and do not respond to mTOR inhibition. Malignancy is predicted by size over five centimetres, infiltrative growth, high grade, necrosis, mitotic count and vascular invasion.
Complete surgical resection is the treatment for localised tumours, with no established role for adjuvant therapy, and surveillance for those with high-risk features. Conventional chemotherapy has little activity in malignant PEComa. Case series of sirolimus, everolimus and temsirolimus showed responses in TSC-altered tumours, establishing mTOR inhibition as the rational systemic therapy.
The single-arm phase 2 AMPECT trial tested albumin-bound sirolimus (nab-sirolimus) in advanced malignant PEComa and reported objective responses in around four in ten patients, with responses lasting years in some and higher response rates in TSC2-mutant tumours, leading to FDA approval in November 2021, the first drug approved for PEComa. The PRECISION 1 basket trial extends nab-sirolimus to any solid tumour with inactivating TSC1 or TSC2 alterations.
A very rare family of tumours, a few hundred malignant cases reported worldwide, arising in the uterus, retroperitoneum, gut and soft tissue of adults, more often women; most are benign, and malignant PEComa did not respond to chemotherapy until mTOR inhibitors.
Bone sarcomas favour the fast-growing ends of long bones (osteosarcoma) or the shaft (Ewing), soft tissue sarcomas the deep muscle compartments; spread is through the blood to the lungs, rarely via lymph nodes.
Lymph node spread is rare (except epithelioid, synovial, clear cell and rhabdomyosarcoma); sarcomas go through the blood to the lungs.
Same organ: Adamantinoma of bone, Dedifferentiated chordoma, Poorly differentiated chordoma (SMARCB1-deficient), Desmoplastic small round cell tumour, Leiomyosarcoma, Liposarcoma, Synovial sarcoma, Sarcomas (soft tissue, bone, GIST), Osteosarcoma, Ewing sarcoma, Rhabdomyosarcoma, Chordoma, Desmoid tumour, Tenosynovial giant cell tumour (TGCT), Epithelioid sarcoma, Vascular tumours (angiosarcoma, epithelioid haemangioendothelioma, kaposiform haemangioendothelioma), Chondrosarcoma, Angiosarcoma, Undifferentiated pleomorphic sarcoma (UPS), Myxofibrosarcoma, Alveolar soft part sarcoma, Epithelioid haemangioendothelioma, Malignant peripheral nerve sheath tumour (MPNST), Retroperitoneal sarcoma, Soft tissue sarcoma of the extremity (localised and advanced)
Complete resection; surveillance for tumours with malignant features; no proven adjuvant therapy.
Nab-sirolimus (AMPECT; FDA approved 2021); oral sirolimus, everolimus or temsirolimus as alternatives; check TSC status.
Anthracycline- or gemcitabine-based chemotherapy has modest activity; trials of mTOR-based combinations; PRECISION 1 for TSC-altered tumours.
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Nab-sirolimus is the approved first-line treatment for advanced malignant PEComa, and TSC1/TSC2 testing helps predict response.
The general principles on the sarcoma subtype pages (reference centre surgery, radiotherapy for high-grade deep tumours, doxorubicin first line, histology-directed later lines) follow this guideline.
mTOR inhibition became the therapeutic strategy for PEComa, culminating in the AMPECT trial and approval of nab-sirolimus.
Query for this cancer: (TITLE:"Perivascular epithelioid cell tumour" OR ABSTRACT:"Perivascular epithelioid cell tumour" OR TITLE:"PEComa" OR ABSTRACT:"PEComa" OR TITLE:"Malignant PEComa" OR ABSTRACT:"Malignant PEComa" OR TITLE:"Angiomyolipoma and lymphangioleiomyomatosis PEComa family" OR ABSTRACT:"Angiomyolipoma and lymphangioleiomyomatosis PEComa family") AND (treatment OR therapy OR trial OR survival OR diagnosis). Results are unfiltered search hits about Perivascular epithelioid cell tumour (PEComa), not a curated reading list.
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Bleeding that does not stop by itself, bleeding from more than one site, or new bruising in several places or one large area.
Cumulative dose: risk rises steeply above 400-550 mg/m² (see the anthracycline calculator).
Avoid grapefruit. Live vaccines are contraindicated.
Reduce by 50% for bilirubin 20-50 µmol/L and 75% for 50-85 µmol/L.
7.5 mg (mild), 5 mg (moderate), 2.5 mg (severe).
Alkylating chemotherapy can damage a blood stem cell in a way that shows up years later as myelodysplastic syndrome or acute myeloid leukaemia. It is uncommon, it depends on the total dose, and the risk falls away after about ten years. Knowing the cumulative dose you were given is the single most useful thing on your treatment summary.
See all on the product pages:DoxorubicinEverolimusGemcitabine·Printable cards in the navigator
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