Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Aug;10(3):207-213.
doi: 10.5582/irdr.2021.01047.

Familial SDHB gene mutation in disseminated non-hypoxia-related malignant paraganglioma treated with [90Y]Y/[177Lu]Lu- DOTATATE

Izabela Łoń  1 , Jolanta Kunikowska  2 , Piotr Jędrusik  1 , Jarosław Góra  1 , Sadegh Toutounchi  3 , Grzegorz Placha  1 , Zbigniew Gaciong  1
Affiliations

Familial SDHB gene mutation in disseminated non-hypoxia-related malignant paraganglioma treated with [90Y]Y/[177Lu]Lu- DOTATATE

Izabela Łoń et al. Intractable Rare Dis Res. 2021 Aug.

Abstract

Familial paraganglioma may be related to mutations in succinate dehydrogenase (SDH) enzyme complex genes. Among patients with hereditary paraganglioma, SDH subunit B (SDHB) gene mutations are associated with the highest morbidity and mortality related to a higher malignancy rate. We report a family with the c.689G>A (p.Arg230His) mutation in the SDHB gene identified in two family members, a father and his daughter. While the 14-year-old daughter had no evidence of clinical disease, recurrent and later disseminated [131I]metaiodobenzylguanidine uptake-negative head and neck paraganglioma with multiple bone metastases developed in the father who underwent peptide receptor radionuclide therapy with [90Y]Y/[177Lu]Lu-dodecane tetraacetic acid octreotate (DOTATATE) at the time of the genetic diagnosis. This treatment was repeated 6 years later due to disease progression and the patient, who is currently 49 years old, remains alive and in good overall clinical condition at 8 years of follow-up after the original presentation at our unit. The growing armamentarium of imaging methods available for such patients may inform decision making regarding choice of the optimal treatment approach, potentially contributing to improved outcomes.

Keywords: catecholamine-producing tumor; positron emission tomography/computed tomography; somatostatin receptor imaging; succinate dehydrogenase.

PubMed Disclaimer

Conflict of interest statement

The authors have no conflicts of interest to disclose.

Figures

Figure 1.
Figure 1.
Imaging studies before treatment. (A) Somatostatin receptor imaging with [68Ga]Ga-DOTATATE demonstrating an increased uptake in the right neck and regional lymph nodes as well disseminated foci in bones. (B) [131I]mIBG whole body scintigraphy scan revealed no uptake at the site of metastases. (C) Positron emission tomography/computed tomography (PET/CT) imaging with [18F]FDOPA. (D) PET/CT imaging with [18F]FDG.
Figure 2.
Figure 2.
Somatostatin receptor imaging with [68Ga]Ga-DOTATATE - response to treatment.
See this image and copyright information in PMC

References

    1. Chen H, Sippel RS, O'Dorisio MS, Vinik AI, Lloyd RV, Pacak K, North American Neuroendocrine Tumor Society. The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma and medullary thyroid cancer. Pancreas. 2010; 39:775-783. - PMC - PubMed
    1. Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, Naruse M, Pacak K, Young WF Jr; Endocrine Society. Pheochromocytoma and paraganglioma: An Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2014; 99:1915-1942. - PubMed
    1. Mannelli M, Castellano M, Schiavi F, et al. . Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab. 2009; 94:1541-1547. - PubMed
    1. Fishbein L, Merrill S, Fraker DL, Cohen DL, Nathanson KL. Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. Ann Surg Oncol. 2013; 20:1444-1450. - PMC - PubMed
    1. Vi c h a A, M u s i l Z, P a c a k K. G e n e t i c s o f pheochromocytoma and paraganglioma syndromes: new advances and future treatment options. Curr Opin Endocrinol Diabetes Obes. 2013; 20:186-191. - PMC - PubMed