Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands: A nationwide study and systematic review

Berends, Annika M A; Buitenwerf, Edward; Krijger, Ronald R. de; Veeger, Nic J. G. M.; Horst-Schrivers, Anouk N A van der; Links, Thera P.; Kerstens, Michiel N.

doi:10.1016/j.ejim.2018.01.015

Cited by 170 publications

(129 citation statements)

References 31 publications

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“…Adrenal nerve tissue (PCCs j and PGLs k ) 0.4-0.21/100,000 [84] • Molecular characterisation of cancers by TCGA across tissues of origin [48].…”

Section: Mesotheliomamentioning

confidence: 99%

A scoping review and proposed workflow for multi-omic rare disease research

Kerr¹,

McAneney²,

Smyth³

et al. 2020

Orphanet J Rare Dis

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Background: Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene testing alone, with diagnostic rates of approximately 50% for inherited diseases, however integrated multi-omic analysis may further increase diagnostic yield. Additionally, multi-omic analysis can aid the explanation of genotypic and phenotypic heterogeneity, which may not be evident from single omic analyses. Main body: This scoping review took a systematic approach to comprehensively search the electronic databases MEDLINE, EMBASE, PubMed, Web of Science, Scopus, Google Scholar, and the grey literature databases OpenGrey / GreyLit for journal articles pertaining to multi-omics and rare disease, written in English and published prior to the 30th December 2018. Additionally, The Cancer Genome Atlas publications were searched for relevant studies and forward citation searching / screening of reference lists was performed to identify further eligible articles. Following title, abstract and full text screening, 66 articles were found to be eligible for inclusion in this review. Of these 42 (64%) were studies of multi-omics and rare cancer, two (3%) were studies of multi-omics and a pre-cancerous condition, and 22 (33.3%) were studies of non-cancerous rare diseases. The average age of participants (where known) across studies was 39.4 years. There has been a significant increase in the number of multi-omic studies in recent years, with 66.7% of included studies conducted since 2016 and 33% since 2018. Fourteen combinations of multi-omic analyses for rare disease research were returned spanning genomics, epigenomics, transcriptomics, proteomics, phenomics and metabolomics. Conclusions: This scoping review emphasises the value of multi-omic analysis for rare disease research in several ways compared to single omic analysis, ranging from the provision of a diagnosis, identification of prognostic biomarkers, distinct molecular subtypes (particularly for rare cancers), and identification of novel therapeutic targets. Moving forward there is a critical need for collaboration of multi-omic rare disease studies to increase the potential to generate robust outcomes and development of standardised biorepository collection and reporting structures for multi-omic studies.

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“…Adrenal nerve tissue (PCCs j and PGLs k ) 0.4-0.21/100,000 [84] • Molecular characterisation of cancers by TCGA across tissues of origin [48].…”

Section: Mesotheliomamentioning

confidence: 99%

A scoping review and proposed workflow for multi-omic rare disease research

Kerr¹,

McAneney²,

Smyth³

et al. 2020

Orphanet J Rare Dis

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“…Pheochromocytoma and paragangliomas (PCC/PGL's) are rare tumors with an approximate annual incidence of 0.004-0.21 per 100000 persons per annum (a nationwide pathology study from Netherlands including 1493 patients with PCC/PGL's) (1), and an overall incidence of 1-8 per million (2,3). Recent studies showed similar age of diagnosis but different data regarding gender distribution.…”

Section: Introductionmentioning

confidence: 99%

“…Recent studies showed similar age of diagnosis but different data regarding gender distribution. Average age of presentation is 40-50 years with no differences between women and men (4) versus mean age of diagnosis which varies between 43 ± 17 and 56 ± 18 years and PCC/ PGL are more frequent in females than in males (55% vs. 45%) (1). Incidence has increased over the last 20 years possibly due to earlier detection of these tumors, with a positive impact on outcome as earlier treatment might reduce future cardiovascular risk (1).…”

Section: Introductionmentioning

confidence: 99%

Changing Pattern of Pheochromocytoma and Paraganglioma in a Stable UK Population

et al. 2020

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Context. Pheochromocytomas and paragangliomas (PCC/PGLs) are diagnosed variously with increasing incidence and changing clinical and pathology pattern. Objective. The aim was to further characterize PCC/PGLs in a stable population. Methods. A retrospective, single institution study analysed adrenalectomies for PCC/PGLs between January 2010-January 2019. Demographics, symptoms, blood pressure, preoperative hormones, imaging, histology, hospital stay, complications and three subgroups [based on the modality of diagnosis-incidentaloma group (IG), genetic group (GG) and symptomatic group (SG)] were noted. Results. 86 patients included IG 51 (59.3%), GG 10 (11.62%) and SG 25 patients (29.06%). Incidence was 5.30 cases/1 million population. 33.34% of the IG had a delayed diagnosis with a mean interval of 22.95 months (4-120 months). Females presented more often with paroxysmal symptoms (PS) (p=0.011). Patients with PS and classic symptoms were younger (p=0.0087, p=0.0004) and those with PS required more inotropes postoperatively (p=0.014). SG had higher preoperative hormone levels (p=0.0048), larger tumors (p=0.0169) and more likely females. GG are younger compared with those from the IG (p=0.0001) or SG (p= 0.178). Conclusion. Majority of patients had an incidental and delayed diagnosis. If symptomatic, patients are more likely to be young females with higher hormone levels and larger tumors.

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“…Paragangliomas (PGLs) are rare neuroendocrine tumors originating from the neural crest–derived chromaffin cells, which arise from either the sympathetic or parasympathetic paraganglia. [ 1 ] The annual incidence of PGLs is approximately 1/100,000, with a peak in the fourth decade of life; women have a higher incidence rate than men among patients with sporadic tumors (71% vs 29%), whereas the hereditary type does not predominantly occur in 1 sex. [ 2 , 3 ] Usually, sympathetic PGLs derived from sympathetic tissue in the abdominal or thoracic locations and parasympathetic PGLs develop mostly in the head and neck region.…”

Section: Introductionmentioning

confidence: 99%

Somatic SDHA mutations in paragangliomas in siblings

et al. 2020

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Rationale: Paragangliomas (PGLs) are rare neuroendocrine tumors that are strongly influenced by genetics, and succinate dehydrogenase-deficient PGLs appear to constitute one of the most important categories. Interestingly, somatic PGLs only possess genomic alterations involving the SDHB and SDHD subunits, and no SDHA alterations have been described. Here, we are presenting the clinical and genetic analyses of 2 cases with the first somatic SDHA variant identified in PGLs. Patient concerns: Here, we reported 2 family members with the diagnosis of PGL. Patient 1 is a 55-year-old woman with a functionally perigastric PGL that co-occurred with a gastric gastrointestinal stromal tumor (GIST), and patient 2 is a 43-year-old woman with a nonfunctionally pericardial PGL, who was the younger sister of the first patient. Diagnoses: Imaging surveys of the 2 cases depicted the presence of a perigastric and a pericardial mass, respectively. A diagnosis of paragangliomas was established by immunohistochemistry (IHC). Interventions: Both patients underwent single-stage resection of the lesion after preoperative oral α-adrenoceptor therapy for 2 weeks. We later performed comprehensive genomic profiling on the tumor samples, including PGL and GIST from patient 1 and PGL from patient 2, and searched for novel actionable mutations, including in all succinate dehydrogenase subunits, as the IHC results were negative for SDHB . Outcomes: Both patients had an uneventful recovery after surgery and the sequencing showed a novel somatic variant in the SDHA gene on chromosome 5q11 (c.1945_1946delTT). Regular follow-up with biochemical testing and image studies showed no evidence of recurrence after a year for patient 1 and 6 years for patient 2. Lessons: PGLs often lead to considerable diagnostic difficulty due to their multiple anatomical locations and variable symptoms, as presented by our cases. The comprehensive use of images and plasma/urine catecholamine measurement can aid the diagnosis of PGLs. In addition, our findings also demonstrate the usefulness and importance of genetic analysis of SDHA mutations in patients exhibiting SDHB IHC-negative PGL. Additional studies utilizing comprehensive genomic profiling are needed to identify the group of PGLs harboring this SDHA genomic alteration.

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Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands: A nationwide study and systematic review

Cited by 170 publications

References 31 publications

A scoping review and proposed workflow for multi-omic rare disease research

A scoping review and proposed workflow for multi-omic rare disease research

Changing Pattern of Pheochromocytoma and Paraganglioma in a Stable UK Population

Somatic SDHA mutations in paragangliomas in siblings

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