Natural History and Management of Familial Paraganglioma Syndrome Type 1: Long-Term Data from a Large Family

Abstract

Head and neck paragangliomas are the most common clinical features of familial paraganglioma syndrome type 1 caused by succinate dehydrogenase complex subunit D (SDHD) mutation. The clinical management of this syndrome is still unclear. In this study we propose a diagnostic algorithm for SDHD mutation carriers based on our family case series and literature review. After genetic diagnosis, first evaluation should include biochemical examination and whole-body imaging. In case of lesion detection, nuclear medicine examination is required for staging and tumor characterization. The study summarizes the diagnostic accuracy of different functional imaging techniques in SDHD mutation carriers. 18F-3,4-dihydroxyphenylalanine (18F-DOPA) positron emission tomography (PET)-computed tomography (CT) is considered the gold standard. If it is not available, 123I-Metaiodobenzylguanidine (MIBG) could be used also for predicting response to radiometabolic therapy. 18F-fluoro-2-deoxy-D-glucose (18F-FDG) PET-CT has a prognostic role since high uptake identifies more aggressive cases. Finally, 68Ga-peptides PET-CT is a promising diagnostic technique, demonstrating the best diagnostic accuracy in our and in other published case series, even if this finding still needs to be confirmed in larger studies. Periodic follow-up should consist of annual biochemical and ultrasonographic screening and biannual magnetic resonance examination to identify biochemical silent tumors early.

Sunitinib Treatment for Advanced Paraganglioma: Case Report of a Novel SDHD Gene Mutation Variant and Systematic Review of the Literature

“…Somatostatin receptors (SSTRs) are expressed by PGLs (53,54), as confirmed by studies investigating 68 Ga PET-CT role in PGLs diagnosis, staging, and follow-up (17,55). Therefore, in our case, considering the 68 Ga DOTATOC uptake SSAs were administrated (lanreotide 120 mg every 28 days).…”

“…In our case, the tumor response was early assessed by CEUS, according to previous studies (17). After 20 days of sunitinib therapy a SD was observed, the left lesion was reduced by approximately 10 mm and the right by 4 mm.…”

“…At 4-month MR angiography, tumor growth was observed (the right measured 22 vs. 15 mm; the left 69 × 46 × 50 vs. 40 × 43 × 53 mm). A 18 F-fluorodeoxyglucose (FDG) PET-CT was performed according to our proposed follow-up algorithm (17), with the evidence of an intense metabolic activity in correspondence of the left voluminous expansive lesion (SUVmax 26.6) and the known right nodular lesion (SUVmax 27.4).…”

Multiparametric ultrasound evaluation of a case of bilateral carotid body tumor

“…Although, CEUS has a recognized role for different organs [ 9 – 11 ]. There is still limited evidence on the use of CEUS in the head and neck paraganglioma [ 12 , 13 ] and this is a second case of PGL published with CEUS and the first bilateral with multiparametric US. Our case has subtle differences from the further case of neck paraganglioma already described [ 12 ], presenting a mixed echogenicity at B-mode exam (versus hypoechogenicity), a predominantly peripheral vascularization with some centripetal vessels at the color Doppler evaluation (versus no vascularization in the middle) and a homogeneous enhancement similar to that of the internal carotid artery after administration of mdc.…”

Use of contrast enhanced ultrasound in testicular diseases: A comprehensive review

“…In the last few decades, the use of intravascular contrast-enhanced US (CEUS) has grown considerably and has proved to be a useful tool in many diagnostic fields. [14][15][16][17][18] US contrast medium consists of US-detectable microbubbles, which are very small-sized (<10 μm) organic shells that are filled with gas.…”