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  4. Neural Tumor Research Laboratory

Neural Tumor Research Laboratory

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Neural Tumor Research Laboratory - UCLA Head and Neck Surgery

The long-term interest of the Neural Tumor Research laboratory is the genetics and biology of human cancer predisposition and progression. The lab has made a number of seminal contributions to the characterization of major tumor suppressors such NF1, NF2, p53, APC, and SMARCB1. Using a variety of engineered mouse lines to study the effects and interactions of these genes in vivo, the lab strives to develop models that faithfully replicate human tumorigenesis. These in turn are utilized for the development and testing of novel treatments and therapeutics.

Current Research Projects

Present research interests focus on the function of the NF2 tumor suppressor gene, mutated in patients with neurofibromatosis type 2 (NF2) with the goal of providing novel therapeutic options to patients. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly the superior vestibular branch of the 8th cranial nerve, usually bilaterally. Meningiomas and other benign central nervous system tumours such as ependymomas are other common features. Recent studies suggest that the NF2 protein may coordinate the processes of growth-factor receptor signaling and cell adhesion. Varying use of this organizing activity by different types of cells could provide an explanation for the unique spectrum of tumors associated with NF2 deficiency.

Although NF2 affects a relatively small percentage of persons, population studies suggest that up to 1 in 300 people will develop a tumor with an underlying sporadic NF2 mutation in their lifetime. This includes patients with unilateral (sporadic) vestibular schwannomas and meningiomas. Therefore, what is learned in developing therapies for NF2-related tumors promises broader clinical applications. The recent discovery that the gene responsible for NF2 is also associated with a number of different kinds of cancers has expanded the impact of this work dramatically.

The lack of satisfactory treatments for NF2-related tumors represents a significant unmet medical need. The overarching goal of the lab is to find drugs that will improve the treatment and long-term survival of NF2 patients, and ultimately provide them with a better quality of life.

Current Clinical Trials

  1. A Single Arm, Monocenter Phase II Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis Type 2-Related Vestibular Schwannoma. ClinicalTrials.gov
    • Identifier: NCT01345136.
    • The purpose of the study is to determine if RAD001 treatment will shrink or slow the growth of the vestibular schwannoma(s) in Neurofibromatosis 2 (NF2) patients. Secondary objectives include determining if RAD001 treatment will improve hearing ability in NF2 patients.

Lab Members

Director: Marco Giovannini, MD, PhD
Co-Director: Jeremie Vitte, PhD
Adjunct Professor: Michel Kalamarides, MD, PhD
Visiting Research Scientist: Laura Papi, MD, PhD
Staff Research Associate: Rosa Sierra, BS
Clinical Research Coordinator: Roberta Leyvas, CCRP

Local Collaborators

Stanley Nelson, MD, UCLA, Human Genetics
Alcino Silva, PhD, UCLA Brain Research Institute
Akira Ishiyama, MD, UCLA Head and Neck Surgery
Fred Linthicum, MD, UCLA Head and Neck Surgery
Phioanh (Leia) Nghiemphu, MD, UCLA Neuro-Oncology Program
Ali Sepahdari, MD, UCLA Neuroradiology
Robert Elashoff, PhD, UCLA Biomathematics
Derald Brackmann, MD, House Clinic, Los Angeles
William Slattery, MD, House Clinic Los Angeles
Mark Schwartz, MD, House Clinic, Los Angeles
Gregory Lekovic, MD, House Clinic, Los Angeles
Vincent Riccardi, MD, Neurofibromatosis Institute, Los Angeles

Contact Information

Marco Giovannini, MD, PhD
[email protected]

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