Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma

Kimura, Noriko; Takekoshi, Kazuhiro; Horii, Akira; Morimoto, Ryo; Imai, Tsuneo; Osuga, Yutaka; Saito, Tomohito; Midorikawa, Sanae; Arao, Tadashi; Sugisawa, Chiho; Yamada, Masanobu; Otuka, Yuichi; Kurihara, Isao; Sugano, Kokichi; Nakane, Minoru; Fukuuchi, Atsushi; Kitamoto, Takumi; Saito, Jun; Nishikawa, Tetsuo; Naruse, Mitsuhide

doi:10.1530/erc-13-0530

Cited by 39 publications

(19 citation statements)

References 10 publications

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“…Tumours with norepinephrine secretion are given higher score (more aggressive) than non-functioning tumours or tumours secreting epinephrine. In the GAPP follow-up study, SDHB immunohistochemistry was added as a parameter [61]. Both systems are not universally adopted in the current WHO classification of endocrine tumours as the findings are still preliminary and without international validations.…”

Section: Paragangliamentioning

confidence: 99%

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Update on Adrenal Tumours in 2017 World Health Organization (WHO) of Endocrine Tumours

2017

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The fourth edition of the World Health Organization (WHO) classification of endocrine tumours contains substantial new findings for the adrenal tumours. The tumours are presented in two chapters labelled as "Tumours of the adrenal cortex" and "Tumours of the adrenal medulla and extra-adrenal paraganglia." Tumours of the adrenal cortex are classified as cortical carcinoma, cortical adenoma, sex cord stromal tumours, adenomatoid tumour, mesenchymal and stromal tumours (myelolipoma and schwannoma), haematological tumours, and secondary tumours. Amongst them, schwannoma and haematological tumours are newly documented. The major updates in adrenal cortical lesions are noted in the genetics of the cortical carcinoma and cortical adenoma based on the data from The Cancer Genome Atlas (TCGA). Also, a system for differentiation of oncocytoma from oncocytic cortical carcinoma is adopted. Tumours of the adrenal medulla and extra-adrenal paraganglia comprise pheochromocytoma, paraganglioma (head and neck paraganglioma and sympathetic paraganglioma), neuroblastic tumours (neuroblastoma, nodular ganglioneuroblastoma, intermixed ganglioneuroblastoma, and ganglioneuroma), composite pheochromocytoma, and composite paraganglioma. In this group, neuroblastic tumours are newly included in the classification. The clinical features, histology, associated pathologies, genetics, and predictive factors of pheochromocytoma and paraganglioma are the main changes introduced in this chapter of WHO classification of endocrine tumours. The term "metastatic pheochromocytoma/paraganglioma" is used to replace "malignant pheochromocytoma/paraganglioma." Also, composite pheochromocytoma and composite paraganglioma are now documented in separate sections instead of one. Overall, the new classification incorporated new data on pathology, clinical behaviour, and genetics of the adrenal tumours that are important for current management of patients with these tumours.

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Section: Paragangliamentioning

confidence: 99%

“…Paediatric onset paragangliomas are almost always hereditary [86]. Pseudorosette pattern may be more common in SDHB mutation-associated tumours [61].…”

Section: Sympathetic Paragangliomamentioning

confidence: 99%

Update on Adrenal Tumours in 2017 World Health Organization (WHO) of Endocrine Tumours

2017

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“…In order for a case to be interpreted as negative for any of these markers, positive staining in endothelial cells must be seen as an internal control ( Fig. 5E) (Kimura et al 2014b).…”

Section: Answer 4: Histopathologymentioning

confidence: 99%

65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma

Neumann¹,

Young²,

Krauß³

et al. 2018

Endocrine-Related Cancer

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Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in the diagnosis and management of patients with pheochromocytoma. The answer to this question is an emphatic ! In the field of molecular genetics, the well-established axiom that familial (genetic) pheochromocytoma represents 10% of all cases has been overturned, with>35% of cases now attributable to germline disease-causing mutations. Furthermore, genetic pheochromocytoma can now be grouped into five different clinical presentation types in the context of the ten known susceptibility genes for pheochromocytoma-associated syndromes. We now have the tools to diagnose patients with genetic pheochromocytoma, identify germline mutation carriers and to offer gene-informed medical management including enhanced surveillance and prevention. Clinically, we now treat an entire family of tumors of the paraganglia, with the exact phenotype varying by specific gene. In terms of detection and classification, simultaneous advances in biochemical detection and imaging localization have taken place, and the histopathology of the paraganglioma tumor family has been revised by immunohistochemical-genetic classification by gene-specific antibody immunohistochemistry. Treatment options have also been substantially enriched by the application of minimally invasive and adrenal-sparing surgery. Finally and most importantly, it is now widely recognized that patients with genetic pheochromocytoma/paraganglioma syndromes should be treated in specialized centers dedicated to the diagnosis, treatment and surveillance of this rare neoplasm.

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“…Consequently, immunohistochemistry has been proposed for triage genetic testing in order to reduce time and costs. Recent findings indicate that SDHB immunohistochemical status strongly correlates with PCC/PGL clinical outcome, thus emphasising the role of SDHB immunohistochemistry as a prognostic marker (10)(11)(12). Loss of both SDHB and SDHA immunoreactivity is evident only in SDHA-mutated tumours, whereas SDHA expression is retained in the context of other SDHx mutations (4).…”

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confidence: 99%

Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation

Santi¹,

Rapizzi²,

Canu³

et al. 2017

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Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma

Cited by 39 publications

References 10 publications

Update on Adrenal Tumours in 2017 World Health Organization (WHO) of Endocrine Tumours

Update on Adrenal Tumours in 2017 World Health Organization (WHO) of Endocrine Tumours

65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma

Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation

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