Sirolimus therapy for fibromatosis and multifocal renal cell carcinoma in a child with tuberous sclerosis complex

Pressey, Joseph G.; Wright, Jordan M.; Geller, James I.; Joseph, David B.; Pressey, Christine S.; Kelly, David R.

doi:10.1002/pbc.22401

Cited by 29 publications

(21 citation statements)

References 17 publications

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“…Rapamycin, a negative regulator of the mTOR pathway, could suppress tumor proliferation. Recently, clinical trials in patients with TSC using rapamycin have demonstrated regression of not only astrocytomas and angiomyolipomas but also RCC [10][11][12]. …”

Section: E38mentioning

confidence: 98%

Two different types of infantile renal cell carcinomas associated with tuberous sclerosis

Kubo

Iwashita

Oyachi

et al. 2011

Journal of Pediatric Surgery

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Section: E38mentioning

confidence: 98%

Two different types of infantile renal cell carcinomas associated with tuberous sclerosis

Kubo

Iwashita

Oyachi

et al. 2011

Journal of Pediatric Surgery

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“…Reports on the results with immunotherapy or targeted molecules in pediatric RCC are scanty [2,17,20,[79][80][81] and it is sometimes impossible even to assess whether there is a response due to the absence of any measurable disease. The potential bias inherent in nonconsecutive case series and reports, and the lack of information on targeted molecules in children, make it difficult to formulate definitive standard therapeutic guidelines for RCC in children and adolescents.…”

Section: Systemic Therapiesmentioning

confidence: 99%

Renal cell carcinoma in children and adolescents

Spreafico

Collini

Terenziani

et al. 2010

Expert Review of Anticancer Therapy

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Although rare in children and adolescents, renal cell carcinomas (RCCs) raise important questions concerning the best treatment approach and accurate pathologic classification. The differences emerging between childhood and adulthood RCC probably prevent any direct generalized application of therapies to children that are validated for adults. The translocation type of RCC, which forms a distinct category characterized by translocations involving Xp11.2 or, less frequently, 6p21, has recently emerged as the predominant type of RCC in children and adolescents, whereas it is rarely diagnosed in adults. This new finding emphasizes how important it is to prospectively classify RCCs in children with standardized 'modern' diagnoses. The standard cornerstone of therapy for RCC in children and adolescents remains radical nephrectomy. Nephron-sparing surgery is currently recommended in adults for selected small-volume tumors, but additional data are needed before this experience can be extensively transferred to the pediatric population. The therapeutic value of complete retroperitoneal lymph node dissection is still controversial, especially in patients without suspected nodal involvement, be they adults or children. The backbone of systemic therapies for adult RCC has recently been changed by the introduction of drugs designed to target tumor-related angiogenesis and signal transduction. It is worth noting that the largest clinical efficacy trials on targeted molecules have been conducted on clear-cell RCC. While targeted drugs have become the standard of care for adult metastatic RCC, there are currently no published reports on their role in children, and their use should be considered for patients with unresectable metastatic or advanced-stage RCC. On the other hand, the utility of targeted therapies in the adjuvant setting remains to be seen for both adults and children.

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“…Sirolimus was associated with significant responses to cases involving chest wall fibromatosis and skin lesions [63,64]. A number of case reports have also demonstrated significant reductions in facial angiofibromas following treatment with sirolimus in patients with TSC [65][66][67][68].…”

Section: Clinical Studies Of Mtor Inhibition In Tsc Sirolimusmentioning

confidence: 97%

mTOR Inhibitors in Tuberous Sclerosis Complex

Curatolo¹,

Moavero²

2012

Current Neuropharmacology

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Tuberous sclerosis complex (TSC) is a genetic multiple organ system disorder that is characterized by the development of tumor-like lesions (hamartomas) and neurodevelopmental disorders. Mutations in the TSC1 and TSC2 tumor suppressor genes occur in the majority of patients with TSC, resulting in hyperactivation of the mammalian target of rapamycin (mTOR) signaling pathway and subsequent abnormalities in numerous cell processes. As a result, mTOR inhibitors such as sirolimus and everolimus have the potential to provide targeted therapy for patients with TSC. Everolimus is the first mTOR inhibitor approved as a treatment option in the USA and in Europe for patients with subependymal giant-cell astrocytomas (SEGAs) associated with TSC. The clinical evidence to date supports the use of mTOR inhibitors in a variety of TSC-associated disease manifestations, including SEGAs, renal angiomyolipoma, skin manifestations, and epilepsy. Furthermore, ongoing clinical trials evaluating mTOR inhibitors in TSC are underway, and the results of these studies are expected to provide further evidence that will firmly establish their role in this setting. This article will discuss the role of the mTOR pathway in TSC and review the pharmacokinetics, pharmacodynamics, clinical efficacy, and tolerability of mTOR inhibitors, along with their current place in clinical practice.

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Sirolimus therapy for fibromatosis and multifocal renal cell carcinoma in a child with tuberous sclerosis complex

Cited by 29 publications

References 17 publications

Two different types of infantile renal cell carcinomas associated with tuberous sclerosis

Two different types of infantile renal cell carcinomas associated with tuberous sclerosis

Renal cell carcinoma in children and adolescents

mTOR Inhibitors in Tuberous Sclerosis Complex

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