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

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 (DOTATAT

SUBMITTER: Lon I 

PROVIDER: S-EPMC8397825 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature