A Case Study of Metastatic Paraganglioma with Álvaro Lopes de Oliveira
“The patient presented with lumbar pain and a significant decrease in weight. No hypertension or hyperaldosteronism. A family history of a 1st-degree cousin with pheochromocytoma, SDHB mutated. CT scan showed multiple liver and adrenal lesions.
Liver Biopsy: metastatic paraganglioma. Microscopy positive for Chromogranin A, Synaptophysin, and S-100, Ki-67 index at 2%. What imaging/ lab tests are recommended for initial work up of patients with metastatic paraganglioma/pheochromocytoma (PPGL)?
- SSTR-PET/CT
- FDG-PET/CT
- MIBG Plasma free or 24 urine
Mini Tweetorial 1:
- PPGL are rare and nearly 50% are associated with germline pathogenic variants in SDHx, and less often in VHL, RET or NF1
- All patients with PPGL should have genetic testing
Mini Tweetorial 2:
PPGL are molecularly classified into 3 types:
- Pseudohypoxic (HIF, VHL, SDHx alterations)
- kinase signaling (RET alterations)
- Wnt-altered: They typically have low TMB and rare actionable mutations
Mini Tweetorial 3:
- Functional imaging with MIBG, SSRT-PET/CT and FDG-PET/CT are recommended to stage patients with PPGL with suspicious metastasis
- Imaging also guides treatment in Pts with metastatic Dz with peptide-receptor radionuclide therapy (PRRT)
Back to the Case:
Patient staged positive on MIBG, SSTR Gallium68 PET/CT. 24h Urine metanephrines normal. Iso-somatic and germline NGS SDHB germline pathogenic: c. 293G>A (p.Cys98Tyr).(VAF 87%) Somatic NGS: TMB7, TP53 subclonal normal BP and liver function.
Treatment Timeline:
- MIBG-I131 therapy x 4 doses till Surgery debulking
- After 14 months, liver PD with new lesions
- What are the treatment options for metastatic PPGL after PD on 1st line MIBG therapy?
Mini Tweetorial 4:
Approx 20% of PPGL become metastatic. mOS= 4 to 6 years; outcomes are heterogeneous. Prognostic factors in metastatic PPGL of MIBG uptake and functional tumors associated with survival.
Treated with sunitinib 37.5mg/day for 9 months with partial response AEs:
- G2 hand-foot syndrome
- G3 hypothyroidism”
Source: Álvaro Lopes de Oliveira/X
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