Project: Research project

Project Details


Primary hyperparathyroidism (HPT) is a common endocrine disorder
hat can cause significant morbidity involving the renal and
skeletal systems. HPT may be due to benign neoplasia of a single
parathyroid gland (adenoma), benign neoplasia involving multiple
parathyroid glands (hyperplasia), and rarely, to malignant
neoplasia of a parathyroid gland (carcinoma). The etiology of
parathyroid neoplasia has not been defined, but clinical and
epidemiologic studies indicate that hyperplasia is often due to an
inherited defect (multiple endocrine neoplasia types 1 and 2), and
that a history of head and neck irradiation is associated with a
significantly higher risk of developing parathyroid neoplasia. As
with other forms of neoplasia, parathyroid tumors are presumably
due to inherited (germ-line mutation) and/or acquired (somatic
mutation) defects in specific genes. Etiologic genetic defects
could include inappropriate expression of transforming "oncogenes"
and/or loss of expression of tumor "suppressor" genes. The
availability of surgically resected parathyroid tumors allows us
to search for tumor-specific genetic abnormalities that may be
involved in development of parathyroid neoplasia. The initial
phase of this work involves comparison of genomic blots of
parathyroid tumor DNA and peripheral leukocyte DNA from the same
patient for rearrangements or deletions. Among the probes to be
used are those for genes (e.g. parathyroid hormone gene) expressed
at high levels in parathyroid tissue; rearrangements of such genes
could lead to inappropriate expression of previously identified or
novel oncogenes. Also, probes for genes such as that encoding the
vitamin D receptor could detect deletions that abolish expression
of a gene whose product prevents abnormal cell division.
StatusNot started


  • Genetics
  • Oncology
  • Cancer Research


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