Surgery for Pheochromocytoma: A Single‐Center Review of 60 Cases from South Africa

Nel, D; Panieri, Eugenio; Malherbe, Francois; Steyn, Richard; Cairncross, Lydia

doi:10.1007/s00268-020-05420-6

Cited by 5 publications

(4 citation statements)

References 34 publications

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“…The study has a number of limitations. As a small single-center cohort, we cannot determine the overall structure of the genetic risk profile for endocrine neoplasias, including PPGL in South Africa as a whole, similar to previous genetic studies on this topic in South Africa ( 10 , 11 , 12 , 22 ). Hence, it remains to be proven in larger series whether the SDHB exon 3 deletion mutation plays a major role in PPGL risk nationally in South Africa.…”

Section: Discussionmentioning

confidence: 87%

“…Identification of this founder effect in South Africa is clinically relevant, as the patients and families affected in this study had an aggressive phenotype. Further study of previously identified patients with PPGL in South Africa could provide more information on the relative frequency of the exon 3 deletion SDHB founder mutation ( 10 , 21 , 22 ).…”

Section: Discussionmentioning

confidence: 99%

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Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa

Gordon

Beckers

Castermans

et al. 2022

Endocrine Connections

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Objective: Screening studies have established genetic risk profiles for diseases such as multiple endocrine neoplasia type 1 (MEN1) and pheochromocytoma-paraganglioma (PPGL). Founder effects play an important role in regional/national epidemiology of endocrine cancers, particularly PPGL. Founder effects in the Netherlands have been described for various diseases, some of which established themselves in South Africa due to Dutch emigration. The role of Dutch founder effects in South Africa have not been explored in PPGL. Design: We performed a single-center study in South Africa of the germline genetic causes of isolated/syndromic neuroendocrine tumors. Methods: Next-generation panel and multiplex ligand-dependent probe amplification for endocrine neoplasia risk genes. Results: From a group of 13 patients we identified six with PPGL, four with sporadic or familial isolated pituitary adenomas (FIPA), and three with clinical MEN1; genetic variants were identified in 9/13 cases. We identified the Dutch founder exon 3 deletion in SDHB in two apparently-unrelated individuals with distinct ethnic backgrounds that had metastatic PPGL. Asymptomatic carriers with this Dutch founder SDHB exon 3 deletion were also identified. Other PPGL patients had variants in SDHB, SDHD and three MEN1 variants were identified among MEN1 and young-onset pituitary adenoma patients. Conclusions: This is the first identification of a Dutch founder effect for PPGL in South Africa. Awareness of the presence of this exon 3 SDHB deletion could promote targeted screening at a local level. Insights into PPGL genetics in South Africa could be achieved by studying existing patient databases for Dutch founder mutations in SDHx genes.

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Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa

Gordon

Beckers

Castermans

et al. 2022

Endocrine Connections

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“…However, studies on the clinical characteristics and causative variants of PGLs in patients of non-European ancestry, especially those of African descent, are overall limited. Interestingly, the few studies that have examined PGL in patients from the African continent have described unique characteristics including a female predominance and a tendency for unusual ectopic locations [34][35][36][37]. One study of 54 self-identified Black patients with PCC/PGL in South Africa showed 39% had extraadrenal tumors [38], and only five patients had familial syndromes; it is unclear whether these patients were assessed for all known variants [39].…”

Section: Discussionmentioning

confidence: 99%

A Study of Paraganglioma Cases With Non-European Ancestry

Ejaz¹,

Nandam²,

Maygarden³

et al. 2022

Cureus

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Capable of generating excess catecholamines, untreated extra-adrenal paragangliomas (PGLs) result in severe cardiovascular morbidity and mortality. Increasingly, a hereditary basis can be identified to underlie PGLs, though such data are largely absent in populations of non-European descent. We present two patients with PGL, both exhibiting similar age, sex, and geographic ancestry. Our patients are unrelated, Kinyarwanda-speaking females from the Democratic Republic of the Congo. The first patient presented with lower extremity edema and poorly controlled hypertension and was found to have multifocal PGL in the abdomen and bladder, proven by biopsy and treated with surgical excision. Our second patient presented with palpitations, shortness of breath, headache, and hypertension, was found to have mediastinal PGL, and underwent surgical excision. Genetic testing was negative in both cases. The first patient has not shown recurrence based on active surveillance with imaging and biochemical testing. There is a concern for recurrence in the second patient, eight years after diagnosis, which is currently being investigated. Our second patient lived at a high altitude for most of her life, pointing toward a possible role of hypoxia in the pathogenesis of her tumor development. Our cases raise questions that require active inquiry regarding additional environmental and/or genetic factors that might predispose to PGLs in uncommon anatomic sites and in understudied, vulnerable populations.

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“…The largest published series to date includes 60 patients, of whom 33% were male and 67% were female, with a mean age of 47 years (range 14-81). 41 No data on ethnicity were recorded for these cases. A series of 54 black patients with phaeochromocytoma from a hospital in Gauteng showed a female to male ratio of 3.2:1 and an age range from 8 to 57 years.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of succinate dehydrogenase deficiency in paragangliomas and phaeochromocytomas at a tertiary hospital in Cape Town: a retrospective review

Bruce-Brand

Wyk

2020

Journal of Endocrinology, Metabolism and Diabetes of South Afri

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Introduction: A substantial proportion of phaeochromocytomas and paragangliomas are associated with underlying germline mutations, of which the majority are due to mutations in one of the genes in the succinate dehydrogenase (SDH) complex. A commercially available immunohistochemical stain for SDHB has excellent correlation with SDH gene mutation status when staining is lost. This abnormal loss of staining can identify potential familial tumours and tumours with a higher risk of malignant behaviour. The prevalence of SDH deficiency in the South African setting has not been published previously. Methods: A retrospective laboratory-based study at Tygerberg Hospital in Cape Town used immunohistochemistry on archived tumour tissue to assess loss of SDHB staining in phaeochromocytomas and paragangliomas submitted to the histopathology laboratory (National Health Laboratory Service) between 2005 and 2015. Results: Tumour tissue from 52 patients was tested. In total, 36% showed loss of staining. Loss of staining was significantly correlated with a younger age at presentation (z = −3.59, p < 0.001). The median age of those who showed loss of staining was 26 years (IQR 21-41), compared with 50.5 years (IQR 36-61) for those who showed retained staining. The interobserver agreement in the interpretation of the immunohistochemical stain was excellent (Cohen's kappa = 0.917; 95% confidence interval, 0.81-1, p < 0.001). Conclusion: Approximately one-third of phaeochromocytomas and paragangliomas in our setting are likely to be associated with germline mutations in one of the SDH genes. Immunohistochemical testing of tumour tissue can identify this group to allow better prognostication and appropriate genetic testing and counselling.

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Surgery for Pheochromocytoma: A Single‐Center Review of 60 Cases from South Africa

Cited by 5 publications

References 34 publications

Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa

Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa

A Study of Paraganglioma Cases With Non-European Ancestry

Prevalence of succinate dehydrogenase deficiency in paragangliomas and phaeochromocytomas at a tertiary hospital in Cape Town: a retrospective review

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