Temsirolimus in the Treatment of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE Gene Fusion Proteins: a Case Report and Review of Literature

Overview

Journal Rare Tumors

Publisher Sage Publications

Specialty Oncology

Date 2010 Dec 9

PMID 21139932

Citations 14

Authors

Jigarkumar Parikh

Teresa Coleman

Nidia Messias

James Brown

Affiliations

Soon will be listed here.

Abstract

Xp11.2 translocation renal cell carcinomas (TRCCs) are a rare family of tumors newly recognized by the World Health Organization (WHO) in 2004. These tumors result in the fusion of partner genes to the TFE3 gene located on Xp11.2. They are most common in the pediatric population, but have been recently implicated in adult renal cell carcinoma (RCC) presenting at an early age. TFE3-mediated direct transcriptional upregulation of the Met tyrosine kinase receptor triggers dramatic activation of downstream signaling pathways including the protein kinase B (Akt)/phosphatidylinositol-3 kinase (PI3K) and mammalian target of rapamycin (mTOR) pathways. Temsirolimus is an inhibitor of mammalian target of rapamycin (mTOR) kinase, a component of intracellular signaling pathways involved in the growth and proliferation of malignant cells. Here we present a case of a 22-year old female who has been treated with temsirolimus for her Xp11.2/TFE3 gene fusion RCC.

Citing Articles

Study of Treatment Outcome in Adults with TFE-Related RCC.

Singh A, Pal M, Kapoor A, Menon N, Prabhash K, Noronha V South Asian J Cancer. 2021; 10(2):92-96.

PMID: 34568222 PMC: 8460340. DOI: 10.1055/s-0041-1731264.

Autophagy in Xp11 translocation renal cell carcinoma: from bench to bedside.

Sun H, Wei X, Zeng C Mol Cell Biochem. 2021; 476(12):4231-4244.

PMID: 34345999 DOI: 10.1007/s11010-021-04235-w.

Factors Associated with Survival From Xp11.2 Translocation Renal Cell Carcinoma Diagnosis-A Systematic Review and Pooled Analysis.

Wu Y, Chen S, Zhang M, Liu K, Jing J, Pan K Pathol Oncol Res. 2021; 27:610360.

PMID: 34257577 PMC: 8262176. DOI: 10.3389/pore.2021.610360.

A prospective study of pediatric and adolescent renal cell carcinoma: A report from the Children's Oncology Group AREN0321 study.

Geller J, Cost N, Chi Y, Tornwall B, Cajaiba M, Perlman E Cancer. 2020; 126(23):5156-5164.

PMID: 32926409 PMC: 7717658. DOI: 10.1002/cncr.33173.

Preclinical efficacy of dual mTORC1/2 inhibitor AZD8055 in renal cell carcinoma harboring a TFE3 gene fusion.

Kauffman E, Lang M, Rais-Bahrami S, Gupta G, Wei D, Yang Y BMC Cancer. 2019; 19(1):917.

PMID: 31519159 PMC: 6743205. DOI: 10.1186/s12885-019-6096-0.

References

Gentile A, Trusolino L, Comoglio P . The Met tyrosine kinase receptor in development and cancer. Cancer Metastasis Rev. 2008; 27(1):85-94. DOI: 10.1007/s10555-007-9107-6. View

Camparo P, Vasiliu V, Molinie V, Couturier J, Dykema K, Petillo D . Renal translocation carcinomas: clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literature. Am J Surg Pathol. 2008; 32(5):656-70. DOI: 10.1097/PAS.0b013e3181609914. View

Cohen H, McGovern F . Renal-cell carcinoma. N Engl J Med. 2005; 353(23):2477-90. DOI: 10.1056/NEJMra043172. View

Moumen A, Patane S, Porras A, Dono R, Maina F . Met acts on Mdm2 via mTOR to signal cell survival during development. Development. 2007; 134(7):1443-51. DOI: 10.1242/dev.02820. View

Argani P, Olgac S, Tickoo S, Goldfischer M, Moch H, Chan D . Xp11 translocation renal cell carcinoma in adults: expanded clinical, pathologic, and genetic spectrum. Am J Surg Pathol. 2007; 31(8):1149-60. DOI: 10.1097/PAS.0b013e318031ffff. View

Carcao M, Taylor G, Greenberg M, Bernstein M, Champagne M, Hershon L . Renal-cell carcinoma in children: a different disorder from its adult counterpart?. Med Pediatr Oncol. 1998; 31(3):153-8. DOI: 10.1002/(sici)1096-911x(199809)31:3<153::aid-mpo5>3.0.co;2-a. View

Lopez-Beltran A, Scarpelli M, Montironi R, Kirkali Z . 2004 WHO classification of the renal tumors of the adults. Eur Urol. 2006; 49(5):798-805. DOI: 10.1016/j.eururo.2005.11.035. View

Costa L, Gemmill R, Drabkin H . Upstream signaling inhibition enhances rapamycin effect on growth of kidney cancer cells. Urology. 2007; 69(3):596-602. DOI: 10.1016/j.urology.2007.01.053. View

Hintzy M, Camparo P, Vasiliu V, Peyromaure M, Vieillefond A . [Renal carcinoma associated with MiTF/TFE translocation: report of six cases in young adults]. Prog Urol. 2008; 18(5):275-80. DOI: 10.1016/j.purol.2008.03.026. View

10.

Altinok G, Kattar M, Mohamed A, Poulik J, Grignon D, Rabah R . Pediatric renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions and clinicopathologic associations. Pediatr Dev Pathol. 2005; 8(2):168-80. DOI: 10.1007/s10024-004-9106-3. View

11.

Tsuda M, Davis I, Argani P, Shukla N, McGill G, Nagai M . 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):919-29. DOI: 10.1158/0008-5472.CAN-06-2855. View

12.

Ramphal R, Pappo A, Zielenska M, Grant R, Ngan B . Pediatric renal cell carcinoma: clinical, pathologic, and molecular abnormalities associated with the members of the mit transcription factor family. Am J Clin Pathol. 2006; 126(3):349-64. DOI: 10.1309/98YE9E442AR7LX2X. View

13.

Bjornsti M, Houghton P . The TOR pathway: a target for cancer therapy. Nat Rev Cancer. 2004; 4(5):335-48. DOI: 10.1038/nrc1362. View

14.

Adjei A, Hidalgo M . Intracellular signal transduction pathway proteins as targets for cancer therapy. J Clin Oncol. 2005; 23(23):5386-403. DOI: 10.1200/JCO.2005.23.648. View

15.

Meyer P, Clark J, Flanigan R, Picken M . Xp11.2 translocation renal cell carcinoma with very aggressive course in five adults. Am J Clin Pathol. 2007; 128(1):70-9. DOI: 10.1309/LR5G1VMXPY3G0CUK. View

16.

Perot C, Boccon-Gibod L, Bouvier R, Doz F, Fournet J, Freneaux P . Five new cases of juvenile renal cell carcinoma with translocations involving Xp11.2: a cytogenetic and morphologic study. Cancer Genet Cytogenet. 2003; 143(2):93-9. DOI: 10.1016/s0165-4608(02)00851-8. View