Clinical
service and signout: neuropathology, surgical
pathology, ophthalmic pathology surgicals and autopsy pathology.
Research Interests:
Our lab's research focuses on identifying the
underlying molecular changes in the lesions and malformations
associated with hereditary brain tumor syndromes (neurofibromatosis
1, neurofibromatosis 2, schwannomatosis and tuberous
sclerosis), and the identification of activated pathways
or events that lead to tumor progression. Although
hereditary brain tumor syndromes are relatively uncommon,
the same molecular events and pathways are often involved
in tumorigenesis and progression of similar sporadic
tumors that are much more frequent in the general
population.
For example, schwannomas are benign nerve sheath
tumors that may arise in people with no underlying
genetic syndrome (solitary, sporadic schwannomas)
or in the context of two hereditary tumor syndromes;
neurofibromatosis 2 and schwannomatosis. Although
all schwannomas share the loss of function of the
NF2 gene, our hypothesis is that additional, epigenetic
events occur in schwannomas and are responsible tumor growth.
The identification of these events and of the pathways
involved (by microarray expression analyses) may aid
in the diagnosis of the different subclinical types
of schwannomas as well as in the development of targeted
therapies.
In addition, we perform pathological analyses
of mouse models of neurofibromatosis, and have published
a classification scheme for genetically engineered
murine nerve sheath tumors.
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