Poster Abstract Abstract

(Adults - Pituitary/Neuroendocrinology), #220531585728

Metastatic Bladder Paraganglioma with underlying SHDB mutation

Ooi Xin Yi, Hospital Kuala Lumpur

Email Address : 

Phone Number :

0122791623

Introduction

Phaeochromocytoma and paraganglioma (PPGL) are rare tumors with up to 40% associated with inherited germline mutations. SHDB mutation is associated with an increased risk of metastasis.

Methods

A 36 year old gentleman presented with hypertensive emergency. He was diagnosed to have a bladder paraganglioma at age 32 when he presented with hypertensive crisis. Ga-68 DOTANOC scan then showed localized 4.7x5.3cm bladder paraganglioma and he underwent complete surgical resection with resolution of his symptoms. Genetic testing done showed SHDB, deletion (exon 1), heterogenous pathogenic variant. He remained asymptomatic and was lost to follow-up due to Covid-19 until his recent admission.

Results

During this admission, he had labile blood pressure with symptoms of palpitations and lethargy. He was found to have a 4.3x elevated urine normetanephrine (1639ug/day, N<374.7). Metanephrine and 3-metoxytyramine were normal. His blood pressure was controlled with phenoxybenzamine 20mg TDS (1mg/kg), telmisartan 40mg OM and carvidelol 25mg BD with improvement in his symptoms. Subsequent anatomical imaging with CT and functional imaging with Ga-68 DOTATE showed a small recurrence at the bladder wall with metastatic lesions at the left sacral ila measuring 4.5x5.1cm, and multiple lytic lesions over the spine, ribs and also the left acetabulum with the highest uptake of Ga-68 DOTATATE at C2 vertebra (SUV max 93). He is now planned for Peptide Receptor Radionuclide Therapy (PRRT).

SHDB mutation is associated with a higher risk of metastatic disease which has remained unexplained. Treatment for metastatic disease include surgical resection where possible, targeted therapy such as PRRT, MIBG (meta-iodobenzylguanidine) therapy, radiotherapy and also systemic therapy such as chemotherapy and tyrosine kinase inhibitors.

Conclusion

Patients with PPGL, especially those with SHDB mutation require monitoring at regular intervals to screen and detect metastasis to reduce mortality and morbidity.

Abstract Report Header copy.png
Abstract Report Footer copy.png