Health Condition 1: C741- Malignant neoplasm of medulla of adrenal gland
Conditions
Interventions
Intervention1: Clinical exome sequencing: Patients will be tested for mutations and deletions in PPGL susceptibility genes by genetic panel testing based on Next Generation sequencing technologies
Con
Sponsors
Department of Endocrinology
Eligibility
Inclusion criteria
Inclusion criteria: Proven PPGL - histopathological confirmation In patients where histopathology is not available, plasma free metanephrines, functional imaging (131I-metaiodobenzylguanidine (MIBG) or 68Ga-DOTATATE scan) and anatomical imaging (Computed tomography (CT) in PCC and sPGL, magnetic resonance imaging (MRI) in HNPGL) will be used to confirm diagnosis
Exclusion criteria
Exclusion criteria: No consent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - To characterize germline mutations in PPGL patients in single centre in Western India using NGS.Timepoint: 5 years | — |
Secondary
| Measure | Time frame |
|---|---|
| - To correlate genetic findings obtained through NGS with clinical and biochemical features and phenotypeTimepoint: 6 years | — |
Countries
India
Contacts
Public ContactDr Tushar Bandgar
Seth G. S. Medical College and KEM Hospital
Outcome results
None listed