Characteristics And Outcomes Of Metastatic Sdhb And Sporadic Pheochromocytoma/Paraganglioma: An National Institutes Of Health Study

Turková, Hana; Prodanov, Tamara; Malý, Marek; Martucci, Victoria; Adams, Karen T.; Widimský, Jiří; Chen, Clara C.; Ling, Alexander; Kebebew, Electron; Stratakis, Constantine A.; Fojo, Tito; Pacák, Karel

doi:10.4158/ep15725.or

Cited by 118 publications

(90 citation statements)

References 53 publications

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“…The risk of metastasis is highest in SDHB carriers ( Fig. 3) [43] and affects survival [49]. The 5-year survival with metastasized PPGL is 50-60% [50][51][52][53].…”

Section: Morbidity and Mortality Of Ppglmentioning

confidence: 99%

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

et al. 2019

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Pheochromocytoma and paraganglioma (PPGL) are rare tumours and at least 30% are part of hereditary syndromes. Approximately 20% of hereditary PPGL are caused by pathogenic germ line variants in genes of the succinate dehydrogenase complex (SDHx), TMEM127 or MAX. Herein we present guidelines regarding genetic testing of family members and their surveillance based on a thorough literature review. All cases of PPGL are recommended genetic testing for germ line variants regardless of patient and family characteristics. At minimum, FH, NF1, RET, SDHB, SDHD and VHL should be tested. In addition, testing of MEN1, SDHA, SDHAF2, SDHC, TMEM127 and MAX is recommended. Healthy first‐degree relatives (and second‐degree relatives in the case of SDHD and SDHAF2 which are maternally imprinted) should be offered carrier testing. Carriers of pathogenic variants should be offered surveillance with annual biochemical measurements of methoxy‐catecholamines and bi‐annual rapid whole‐body magnetic resonance imaging and clinical examination. Surveillance should start 5 years before the earliest age of onset in the family and thus only children eligible for surveillance should be offered pre‐symptomatic genetic testing. The surveillance of children younger than 15 years needs to be individually designed. Our guidelines will provide a framework for patient management with the possibility to follow outcome via national registries and/or follow‐up studies. Together with improved insights into the disease, this may enable optimisation of the surveillance scheme in order to minimise both anxiety and medical complications while ensuring early disease detection.

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“…The risk of metastasis is highest in SDHB carriers ( Fig. 3) [43] and affects survival [49]. The 5-year survival with metastasized PPGL is 50-60% [50][51][52][53].…”

Section: Morbidity and Mortality Of Ppglmentioning

confidence: 99%

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

et al. 2019

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“…If left untreated, a subset of these tumors will metastasize. A high malignant potential has been specifically recognized for SDHB-related tumors and is associated with tumor size at the time of diagnosis (40,41). The increased metastatic potential and aggressive nature of SDHx-related paragangliomas compared with de novo paragangliomas without underlying germline predisposition must be taken into account when developing early tumor surveillance in patients with HPP.…”

Section: Introductionmentioning

confidence: 99%

Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

Rednam

Erez

Druker

et al. 2017

Clinical Cancer Research

214

157

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Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerable to delayed tumor detection and their sequelae. Although multiple tumor screening paradigms are currently being utilized for patients with vHL, surveillance should be reassessed as the available relevant clinical information continues to expand. We propose a new vHL screening paradigm similar to existing approaches, with important modifications for some tumor types, placing an emphasis on risks in childhood. This includes advancement in the timing of surveillance initiation and increased frequency of screening evaluations. Another neuroendocrine-related familial condition is the rapidly expanding hereditary paraganglioma and pheochromocytoma syndrome (HPP). The tumor spectrum for patients with HPP syndrome includes paragangliomas, pheochromocytomas, renal cancer, and gastrointestinal stromal tumors. The majority of patients with HPP syndrome harbor an underlying variant in one of the SHDx genes (SDHA, SDHB, SDHC, SDHD, SDHA, and SDHAF2), although other genes also have been described (MAX and TMEM127). Annual screening for elevated plasma or urine markers along with complete blood count and biennial whole-body MRI accompanied by focal neck MRI is recommended for older children and adults with HPP syndrome to detect tumors early and to decrease morbidity and mortality from HPP-related tumors.

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“…Eight died due to disease progression versus none with benign disease . Another report on 27 children with metastatic PHEO/PGL reported an overall survival of 60% …”

Section: Discussionmentioning

confidence: 97%

Failure of MIBG scan to detect metastases in SDHB‐mutated pediatric metastatic pheochromocytoma

Sait

Pandit‐Taskar

Modak

2017

Pediatric Blood & Cancer

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I-meta-iodo benzyl guanidine (MIBG) scans are considered the gold standard imaging in neuroblastoma; however, flouro deoxy glucose positron emission tomography (FDG-PET) scans have increased sensitivity in adults with pheochromocytoma/paraganglioma. We describe a pediatric patient initially considered to have localized neuroblastoma based on anatomical imaging and I-MIBG scan, but subsequent investigations revealed germline succinate dehydrogenase complex iron sulfur subunit B (SDHB) mutation-associated pheochromocytoma with multiple FDG-avid skeletal metastases. We then compared I-MIBG and FDG-PET scans in children with metastatic pheochromocytoma/paraganglioma. FDG-PET was superior to I-MIBG scan for the detection of skeletal metastases (median number of skeletal lesions detected 10 [range 1-30] vs. 2 [range 1-26], respectively; P = 0.005 by t-test). FDG-PET should be considered the functional scan of choice in children with pheochromocytoma/paraganglioma.

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Characteristics And Outcomes Of Metastatic Sdhb And Sporadic Pheochromocytoma/Paraganglioma: An National Institutes Of Health Study

Cited by 118 publications

References 53 publications

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

Failure of MIBG scan to detect metastases in SDHB‐mutated pediatric metastatic pheochromocytoma

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