SDHB large deletions are associated with absence of MIBG uptake in metastatic lesions of malignant paragangliomas

Know thy tumour: Biomarkers to improve treatment of molecular radionuclide therapy

“…Although retrospective analysis is underway, this study was commissioned before the impact of these genetic subtypes was fully appreciated, particularly succinate dehydrogenase complex iron sulfur subunit B (SDHB). It is now apparent that each genetic cluster has its own molecular phenotype that is reflected in the most optimal molecular imaging agent [19]. Choice of imaging agent impacts the ability to detect potentially resectable metastases and potential MRT agent to treat non-resectable metastases.…”

“…If the genetic subtype is unknown, PPGL detection rate is 93% with [ 68 Ga]Ga-DOTATATE, 93% for [ 18 F]F-DOPA, 74% [ 18 F]FDG and 38% for [ 123/131 I] mIBG scintigraphy [50]. However, if the genetic subtype cluster is known, then these success rates do improve [19,50], and apart from properly assessing surgical options, patients can be enrolled with the most suitable MRT agent. For example, if patients have a SDHx gene mutation and sufficient uptake of [ 68 Ga]Ga-DOTATATE then the option of [ 90 Y]Y-DOTATATE is being explored [20].…”

Investigação genética de feocromocitomas e paragangliomas

“…98 . A associação da presença da deleção do exon 1 do SDHB e a ausência de captação das lesões metastáticas na cintilografia com131 I-− O diagnóstico genético foi definido em 72% dos PPGLs pediátricos, com o VHL sendo o gene mais comumente mutado.…”