Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: Clinical and molecular correlates

International Journal of Cancer

Volumn 132, Issue 7, 2013, Pages 1711-1717

  Dickson, Mark A ^a   Schwartz, Gary K ^a   Antonescu, Cristina R ^a   Kwiatkowski, David J ^b   Malinowska, Izabela A ^b  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

everolimus; mTOR; PEComa; perivascular epithelioid cell tumor; sirolimus; TSC2

Indexed keywords

BORTEZOMIB; CLARITHROMYCIN; EVEROLIMUS; FIGITUMUMAB; GUANOSINE TRIPHOSPHATASE; MAMMALIAN TARGET OF RAPAMYCIN; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR; RAPAMYCIN; S6 KINASE; SORAFENIB; TEMSIROLIMUS; TOPOTECAN; TUBERIN;

ABDOMINAL DISTENSION; ABDOMINAL PAIN; ACUTE ABDOMEN; ADULT; AGED; ARTICLE; CANCER GROWTH; CHROMOSOME TRANSLOCATION; CHYLOUS ASCITES; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DIARRHEA; DRUG DOSE REDUCTION; DRUG RESPONSE; EXTRARENAL PERIVASCULAR EPITHELIOID CELL TUMOR; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE REARRANGEMENT; GENETIC ANALYSIS; HETEROZYGOSITY LOSS; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTESTINE PERFORATION; LUNG METASTASIS; LYMPHADENOPATHY; MALE; MULTIPLE CYCLE TREATMENT; MUTATIONAL ANALYSIS; PERIVASCULAR EPITHELIOID CELL TUMOR; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETROPERITONEAL TUMOR; SIGNAL TRANSDUCTION; SOFT TISSUE METASTASIS; TUBEROUS SCLEROSIS; TUMOR BIOPSY;

ADRENAL GLAND NEOPLASMS; ADULT; AGED; ANTIBIOTICS, ANTINEOPLASTIC; FEMALE; HUMANS; IMMUNOENZYME TECHNIQUES; IMMUNOSUPPRESSIVE AGENTS; IN SITU HYBRIDIZATION, FLUORESCENCE; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MUTATION; PERIVASCULAR EPITHELIOID CELL NEOPLASMS; PROGNOSIS; REMISSION INDUCTION; RETROPERITONEAL NEOPLASMS; REVIEW LITERATURE AS TOPIC; SIROLIMUS; TOR SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS;

EID: 84873096320     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.27800     Document Type: Article

References (26)

1. Folpe AL, Kwiatkowski DJ., Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol 2010; 41: 1-15.
2. Martignoni G, Pea M, Reghellin D, et al. PEComas: the past, the present and the future. Virchows Archiv: Int J Pathol 2008; 452: 119-132.
3. Kwiatkowski DJ, Thiele EA, Whittemore VH., Tuberous sclerosis complexed. Weinheim, Germany: Wiley-VCH, 2010.
4. Henske EP, Wessner LL, Golden J, et al. Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am J Pathol 1997; 151: 1639-1647.
5. Carsillo T, Astrinidis A, Henske EP., Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci USA 2000; 97: 6085-90.
6. Pan CC, Chung MY, Ng KF, 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: 387-393.
7. Qin W, Bajaj V, Malinowska I, et al. Angiomyolipoma have common mutations in TSC2 but no other common genetic events. PLoS One 2011; 6: e24919.
8. Kenerson HL, Aicher LD, True LD, et al. Activated mammalian target of rapamycin pathway in the pathogenesis of tuberous sclerosis complex renal tumors. Cancer Res 2002; 62: 5645-5650.
9. Kenerson H, Folpe AL, Takayama TK, et al. Activation of the mTOR pathway in sporadic angiomyolipomas and other perivascular epithelioid cell neoplasms. Hum Pathol 2007; 38: 1361-1371.
10. El-Hashemite N, Walker V, Zhang H, et al. Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin. Cancer Res 2003; 63: 5173-5177.
11. Pollizzi K, Malinowska-Kolodziej I, Stumm M, et al. Equivalent benefit of mTORC1 blockade and combined PI3K-mTOR blockade in a mouse model of tuberous sclerosis. Mol Cancer 2009; 8: 38-46.
12. Bissler JJ, McCormack FX, Young LR, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med 2008; 358: 140-151.
13. Dabora SL, Franz DN, Ashwal S, et al. Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF-D levels decrease. PLoS One 2011; 6: e23379.
14. Davies DM, de Vries PJ, Johnson SR, et al. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res 2011; 17: 4071-4081.
15. McCormack FX, Inoue Y, Moss J, et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med 2011; 364: 1595-1606.
16. Italiano A, Delcambre C, Hostein I, et al. Treatment with the mTOR inhibitor temsirolimus in patients with malignant PEComa. Ann Oncol 2010; 21: 1135-1137.
17. Wagner AJ, Malinowska-Kolodziej I, Morgan JA, et al. Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. J Clin Oncol 2010; 28: 835-840.
18. Mosquera JM, Dal Cin P, Mertz KD, et al. Validation of a TFE3 break-apart FISH assay for Xp11.2 translocation renal cell carcinomas. Diagn Mol Pathol: Am J Surg Pathol, B 2011; 20: 129-137.
19. El-Hashemite N, Zhang H, Henske EP, et al. Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. Lancet 2003; 361: 1348-1349.
20. Argani P, Aulmann S, Illei PB, et al. A distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol 2010; 34: 1395-1406.
21. Subbiah V, Trent JC, Kurzrock R., Resistance to mammalian target of rapamycin inhibitor therapy in perivascular epithelioid cell tumors. J Clin Oncol 2010; 28: e415.
22. Quek R, Wang Q, Morgan JA, et al. Combination mTOR and IGF-1R inhibition: phase I trial of everolimus and figitumumab in patients with advanced sarcomas and other solid tumors. Clin Cancer Res 2011; 17: 871-879.
23. Malinowska I, Weiss SW, Martignoni G, et al. Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biologic distinction. Am J Surg Pathol, 2012; 36: 783-784.
24. Zoncu R, Efeyan A, Sabatini DM., mTOR: from growth signal integration to cancer, diabetes and ageing. Nat Rev: Mol Cell Biol 2011; 12: 21-35.
25. Guertin DA, Sabatini DM., The pharmacology of mTOR inhibition. Sci Signal 2009; 2: pe24.
26. Blay JY., Updating progress in sarcoma therapy with mTOR inhibitors. Ann Oncol 2011; 22: 280-287.