Endocrine Abstracts (2015) 38 P77 | DOI: 10.1530/endoabs.38.P77

Phaeochromocytoma: experience from a single centre in South India

Dukhabandhu Naik, Riddhi Das Gupta, H S Asha, Thomas V Paul, Nitin Kapoor, D M Mahesh, Anish Jacob Cherian, Deepak T Abraham, Nylla Shanthly, Reji Oomen, Anuradha Chandramohan, Banumathi Ramakrishna, Rekha Pai, M J Paul, Simon Rajaratnam & Nihal Thomas

Christian Medical College, Vellore, Tamilnadu, India.

Phaeochromocytoma (PCC) and paragangliomas (PGL) are neuroendocrine tumours derived from the embryonic neural crest, located either within the adrenal gland or at extra-adrenal sites.

Objective: To study the clinical, biochemical, imaging characteristics, and mutational profile of patients with PCC/PGL treated at our institution.

Methods: We collected data of patients with PCC/PGLs managed at Christian Medical College, Vellore, India over a period of 21 years from 1994 to 2014 by review of medical records.

Results: This retrospective study comprised of 180 subjects with PCC/PGL (52% males and 48% females); with median age at diagnosis of 36 years (range 16–72 years). The classical triad of headache, palpitations, and sweating was observed in only 22% of patients. Hypertension was the presenting symptom in 140 (78%) and 62% had headache. Atypical presentations included abdominal pain (42%), fever (6%), and seizures (3%).

Prior to 2008, 24 h urinary vannilyl mandelic acid estimation was done, of which 73% had elevated levels. Urinary metanephrine (uMN) and normetanephrine (uNMN) estimation (from 2008 onwards) revealed elevated uMN alone in 24%, uNMN alone in 12% and both in 64%. The mean largest diameter of the tumours was 6.3 cm (±1.4 cm). 131I-MIBG scan was done in 137 patients (76%), among which 120 subjects (88%) showed increased uptake. Genetic testing for familial PCC/PGL was done in 50 subjects, of whom 16 (32%) had germline mutations in any one of the susceptibility genes – RET4, VHL6, SDHB3, and SDHD3. Malignant pheochromocytoma was present in 25 (14%) patients; two of these had SDHB and SDHD mutations. Surgical excision of the tumour/s was carried out in 176 (97%) patients. Of the remaining four patients, one patient was treated with 131I-MIBG therapy in view of metastatic disease, while the other three patients refused surgery.

Conclusion: This is the largest series of PCC/PGL reported till date in Indian patients. It highlights the unique clinical presentations and significant burden of familial cases in an Indian population.