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

Sesti, Franz; Feola, Tiziana; Puliani, Giulia; Centello, Roberta; Vito, Valentina Di; Bagni, Oreste; Lenzi, Andrea; Isidori, Andrea M.; Cantisani, Vito; Faggiano, Antongiulio; Giannetta, Elisa

doi:10.3389/fonc.2021.677983

Cited by 8 publications

(5 citation statements)

References 62 publications

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“…Insulinomas, thymic NET, and gastrinomas have the worst prognosis and the highest mortality [5]. Clinical symptoms are related to tumor secretion, since GEP-NETs can be associated with symptoms due to ectopic secretion of hormones (functioning NETs) or either do not secrete any hormones or the products secreted do not cause a clinical syndrome (non-functioning, NF-GEP-NET) (Table 2) [32][33][34][35].…”

Section: Epidemiology Clinical and Pathological Featuresmentioning

confidence: 99%

Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies

Ruggeri

Benevento²,

Cicco³

et al. 2022

J Endocrinol Invest

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Purpose Neuroendocrine neoplasms can occur as part of inherited disorders, usually in the form of well-differentiated, slow-growing tumors (NET). The main predisposing syndromes include: multiple endocrine neoplasias type 1 (MEN1), associated with a large spectrum of gastroenteropancreatic and thoracic NETs, and type 4 (MEN4), associated with a wide tumour spectrum similar to that of MEN1; von Hippel-Lindau syndrome (VHL), tuberous sclerosis (TSC), and neurofibromatosis 1 (NF-1), associated with pancreatic NETs. In the present review, we propose a reappraisal of the genetic basis and clinical features of gastroenteropancreatic and thoracic NETs in the setting of inherited syndromes with a special focus on molecularly targeted therapies for these lesions. Methods Literature search was systematically performed through online databases, including MEDLINE (via PubMed), and Scopus using multiple keywords' combinations up to June 2022. Results Somatostatin analogues (SSAs) remain the mainstay of systemic treatment for NETs, and radiolabelled SSAs can be used for peptide-receptor radionuclide therapy for somatostatin receptor (SSTR)-positive NETs. Apart of these SSTR-targeted therapies, other targeted agents have been approved for NETs: the mTOR inhibitor everolimus for lung, gastroenteropatic and unknown origin NET, and sunitinib, an antiangiogenic tyrosine kinase inhibitor, for pancreatic NET. Novel targeted therapies with other antiangiogenic agents and immunotherapies have been also under evaluation. Conclusions Major advances in the understanding of genetic and epigenetic mechanisms of NET development in the context of inherited endocrine disorders have led to the recognition of molecular targetable alterations, providing a rationale for the implementation of treatments and development of novel targeted therapies.

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Section: Epidemiology Clinical and Pathological Featuresmentioning

confidence: 99%

Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies

Ruggeri

Benevento²,

Cicco³

et al. 2022

J Endocrinol Invest

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“…However, it has been documented that in patients with advanced or unresectable metastatic paraganglioma, radiotherapy is effective in improving symptoms and controlling tumor growth, and higher radiation doses are associated with lower tumor recurrence. [13] In addition, patients with succinate dehydrogenase (SDH)-positive paragangliomas can achieve partial remission after treatment with tyrosine kinase inhibitors [14] ; Sesti et al [15] reported that the multitargeted RTK inhibitor Sunitinib may be a viable treatment option for patients with inoperable paragangliomas. Overall, paragangliomas are clinically rare and the specific efficacy of various adjuvant therapies for paragangliomas still requires extensive clinical data to evaluate.…”

Section: Discussionmentioning

confidence: 99%

Middle mediastinal paraganglioma: A case report and review of the literature

Xu,

Hu,

et al. 2023

Medicine

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Rational: Paragangliomas are rare and can occur in many places throughout the body, but mediastinal paragangliomas are even rarer, accounting for less than 0.3% of mediastinal masses. Extremely susceptible to misdiagnosis and mistreatment, which may lead to the death of the patient. Patient concerns: We report a case of a giant paraganglioma of the middle mediastinum. A 40-year-old woman was admitted to the hospital with a rib fracture and a chest computed tomography suggesting a giant occupying tumor in the middle mediastinum. Diagnosis: Immunohistochemistry revealed positive for S100 fraction and Syn, focally positive for CgA, while negative for CKp and succinate dehydrogenase complex iron sulfur subunit B gene, and Ki67index ≈ 5%. The imaging and immunohistochemical features suggested a final diagnosis of Paragangliomas. Interventions: This patient underwent lateral open heart surgery to remove a mediastinal mass. Outcomes: One month after being discharged, the patient was contacted by phone for a follow-up visit and reported feeling OK. Unfortunately, as of the date of submission, the patient did not come to our hospital for review. Lessons: Mediastinal paraganglioma as a rare and potentially malignant tumor susceptible to misdiagnosis and mistreatment. Organ pathology examination is the gold standard for diagnosis, and surgery is an important treatment method. A clear diagnosis and thorough preoperative examination are important guarantees for the success of surgery.

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“…In a recent systematic review reporting patients with PPGLs treated with Sunitinib, almost half of the patients with malignant PPGLs did not have excess catecholamine secretion, while the remaining patients were with elevated catecholamines [ 20 ]. This phenomenon suggests that it is very interesting to explore the relationship between catecholamine secretion and metastatic progression of PPGLs.…”

Section: Discussionmentioning

confidence: 99%

The Clinical Characteristics of Pheochromocytomas and Paragangliomas with Negative Catecholamines

Zhao

Zhang

Meng

et al. 2022

JCM

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Pheochromocytomas and paragangliomas (PPGLs) associated with negative catecholamines are not uncommon. However, few studies have examined clinical features of patients with these tumors. In the absence of available data, it is difficult to identify characteristics of patients with potential PPGLs and normal serum and urine screens. Therefore, an analysis of patients with PPGLs was conducted retrospectively to compare the clinical features of patients with positive and negative catecholamines. This study included 214 patients, including 69 patients with negative catecholamines. Prevalence rates of diabetes (p < 0.001) and hypertension (p < 0.001) were lower and tumor diameter (p < 0.001) was smaller in the negative-catecholamine group compared with the positive-catecholamine group. Multivariable logistic regression analysis showed that extra-adrenal PPGLs were independently positively associated with negative catecholamines (p = 0.004); hypertension (p = 0.001) and tumor diameter (p = 0.016) were independently negatively associated with negative catecholamines. There was no significant difference in tumor recurrence between the two groups (mean follow-up, 20.54 ± 11.83 months) (p = 0.44). The results demonstrated that PPGL patients with negative catecholamines were more likely to have extra-adrenal tumors and less likely to have comorbidities, and these patients should also be closely monitored for tumor recurrence.

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

Cited by 8 publications

References 62 publications

Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies

Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies

Middle mediastinal paraganglioma: A case report and review of the literature

The Clinical Characteristics of Pheochromocytomas and Paragangliomas with Negative Catecholamines

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