Cerebral cavernous malformation type 1 with retinal blood vessel tortuosity and KRIT1 gene mutation.

Cerebral cavernous malformations (CCMs) represent a relatively rare and heterogeneous clinical entity with mutations identified in three genes. Both sporadic and familial forms have been reported. We present a young female patient with episodic paresthesia and headaches, but without acute neurological deficits.

Secretory meningioma with bone infiltration and orbital spreading.

Secretory meningioma is a rare form of meningiomas which differentiates from the meningothelial subtype. It is characterized by significant peritumor edema and distinct immunohistochemical and molecular genetic profiles. We present a middle aged female patient with secretory meningioma infiltrating the orbital bone from the primary cranial base location and causing exophthalmos, features rarely described with this tumor.

Contribution of the Wnt Pathway to Defining Biology of Glioblastoma.

Glioblastoma (GBM), a highly lethal brain tumor, has been comprehensively characterized at the molecular level with the identification of several potential treatment targets. Data concerning the Wnt pathway are relatively sparse, but apparently very important in defining several aspects of tumor biology. The Wnt ligands are involved in numerous basic biological processes including regulation of embryogenic development, cell fate determination, and organogenesis, but growing amount of data also support the roles of Wnt pathways in the formation of many tumors, including gliomas.

Isocitrate dehydrogenase mutations in defining the biology of and supporting clinical decision making in glioblastoma.

Background And Purpose: Oncogenesis is related to a sequential accumulation of somatic mutations. Comprehensive characterizations of the genomic landscapes have been completed recently for several tumors, glioblastoma being among the first ones. Our own translational research studies have been focused on defining molecular subtypes of glioblastoma in the clinical setting because of an expected prognostic and therapeutic utility of the information.