Phenotyping and Therapeutic Approaches for Patients with Sellar/Suprasellar Disorders

The goal of the study is to phenotype and genotype patients with rare hypothalamic and pituitary disorders and identify biomarkers of disease diagnosis, presentation, and progression. We are investigating genetic mechanisms of pituitary tumorigenesis as well as genomic/transcriptomic markers of disease presentation and severity. Patients with suspected or confirmed hypothalamic and/or pituitary disorders and their family members are recruited. Biospecimens including peripheral blood, urine, tumor tissue (as available), and/or stool are collected. Genetic analysis may include a variety of techniques including peripheral blood or tumor tissue targeted Sanger sequencing of one or few genes, peripheral blood or tumor tissue whole exome sequencing, and other as applicable. ]]>
Inclusion Criteria: Stated willingness to comply with all study procedures and availability for the duration of the studyMale or female, aged 3 years to 70 years Evidence for the existence of a tumor of the hypothalamic-pituitary unit, as indicated by previously obtained imaging studies or biochemical investigation of the hypothalamo hypophyseal functionFamily members (at any age) of patients with a family history of tumors, who will agree to participate in the DNA/linkage analysis study.Member of a kindred suspected of having an inherited form of pituitary neoplasia, as evidenced by results of a patient enrolled in this protocolAbility of subject or legally authorized representative (LAR) to understand and willingness to sign a written informed consent documentExclusion Criteria: Pregnancy ]]>