CORE--PATIENTS

Massachusetts General Hospital, Boston MA

Investigators

Linked publications & trials

Abstract

DESCRIPTION: The Patient Core has 3 specific aims: 1) To provide a patient core for patient ascertainment, patient and family member clinical assessment. Family history and pedigree information will be obtained directly through the Massachusetts General Hospital (MGH) Tuberous Sclerosis and Neurofibromatosis clinics, from the MGH Neurogenetics DNA Diagnostic Lab, as well as from outside referring professionals and patient support organizations. Clinical and pedigree data will be entered into our central database; 2) To obtain tissues from patients affected by TSC1, TSC2, NF2, and atypical NF variants Blood samples will be used for transformation and lymphoblast line establishment. Tissue samples to be solicited and collected include CNS tumors/CNS dysplasias, renal and pulmonary lesions, subungal fibromas, skin, sperm, and/or hair follicles. Tissues will be cultured and stored frozen for molecular genetic analysis and expression studies. Brain and other tissues from affected patients will be obtained from autopsy, when available, through MGH or from outside referral sources. Research enrollment and sample acquisition from autopsy will be priority for TSC work. In addition to classic NF2 patient tissues, collection of tissues from those enrolled patients with familial schwannomatosis , multiple lipomas or atypical NF variants will be a high priority. Lymphoblast cell lines will be established on all atypical patients and available family members. DNA will be extracted from all samples and stored. RNA will be extracted directly from tissues and blood . All materials will be available to the relevant projects for molecular study, mutational screening, expression an/or protein studies; and 3) To maintain, upgrade and add to our centralized clinical, mutational and sample/tissue databases. We will continue to maintain and add clinical, mutational and tissue/sample data to the TSC and NF databases. These databases will maintain demographic, clinical, family information/ pedigree, tumor/cell line/tissue storage and genotype data. This database will be designed to facilitate data summary, query/analysis and update functions. Design will optimize on-line export/import functions with outside institution project investigator and collaborator databases.