Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

Taïeb, David; Wanna, George B.; Ahmad, Maleeha; Lussey-Lepoutre, Charlotte; Perrier, Nancy D.; Nölting, Svenja; Amar, Laurence; Timmers, Henri J L M; Schwam, Zachary G.; Estrera, Anthony L.; Lim, Michael; Pollom, Erqi L.; Vitzthum, Lucas K.; Bourdeau, Isabelle; Casey, Ruth; Castinetti, Frédéric; Clifton‐Bligh, Roderick; Corssmit, Eleonora P M; Krijger, Ronald R. de; Rivero, Jaydira Del; Eisenhofer, Graeme; Ghayee, Hans K.; Gimenez‐Roqueplo, Anne‐Paule; Grossman, Ashley; Impériale, Alessio; Jansen, Jeroen C.; Jha, Abhishek; Kerstens, Michiel N.; Kunst, Henricus P. M.; Liu, James K.; Marchioni, Daniele; Mercado-Asis, Leilani B.; Mete, Özgür; Naruse, Mitsuhide; Nilubol, Naris; Pandit‐Taskar, Neeta; Sébag, F.; Tanabe, Akiyo; Widimský, Jiří; Meuter, Leah; Lenders, Jacques W.M.; Pacák, Karel

doi:10.1016/s2213-8587(23)00038-4

Cited by 34 publications

(21 citation statements)

References 127 publications

(183 reference statements)

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“…Very recently an urgently needed clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients with germline SDHD pathogenic variants was published. 1 It is emphasized that all monitoring and treatment decisions must be made by a multidisciplinary team and each case should be considered individually. Further recommendations of this guideline as well as recommendations of a former international consensus 7 can be summarized as follows:…”

Section: Discussionmentioning

confidence: 99%

“…A head and neck MRI and an SSTR-based hybrid imaging DOTATOC-PET/CT should be performed. 1 If PPGL occur before knowledge of a positive mutation status, they should be tested for SDHx mutation, especially in young age of onset and positive family history. [7][8][9] This was the case with our index patient, in whom PPGL were initially noticeable and the SDHD gene mutation was subsequently detected.…”

Section: Sdhd Ppglsmentioning

confidence: 99%

“…A clinical consensus guideline on the management of PGL/PCC in patients harboring pathogenic germline variants of SDHD (encoding succinate dehydrogenase subunit D) was recently published. 1 However, some detailed questions remain unresolved and need to be discussed and decided by a multiprofessional treatment team.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing

Braegelmann,

Mathew,

Führer‐Sakel

et al. 2024

Clinical Case Reports

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Key Clinical MessagesThe newly published clinical consensus guideline on the management of PGL/PCC is helpful for decision‐making for diagnostics and treatment. Still, the treatment of patients with SDHD gene mutations requires an individual approach and those patients belong to multiprofessional teams. It is often assumed that spouses are genetically unrelated. However, the genetic relationships between spouses should always be examined empathetically and impartially.

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Section: Discussionmentioning

confidence: 99%

Section: Sdhd Ppglsmentioning

confidence: 99%

See 1 more Smart Citation

Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing

Braegelmann,

Mathew,

Führer‐Sakel

et al. 2024

Clinical Case Reports

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“…Extra‐adrenal pheochromocytomas are known as paragangliomas (PGL) and arise from the sympathetic and parasympathetic chain ganglia 1 . The mainstay for therapy is surgical resection of the tumour, with adequate alpha adrenoceptor blockade prior to surgery 2 . The World Health Organization (WHO) has identified all PCC/PGL as having potential for metastatic behaviour 3 .…”

Section: Figurementioning

confidence: 99%

“…1 The mainstay for therapy is surgical resection of the tumour, with adequate alpha adrenoceptor blockade prior to surgery. 2 The World Health Organization (WHO) has identified all PCC/PGL as having potential for metastatic behaviour. 3 Although currently there is no identified cure for patients with metastatic PCC/PGL, new data have provided insights in better and improved understanding of this potentially lethal tumours.…”

mentioning

confidence: 99%

Niche for polyamine inhibition in treatment of metastatic pheochromocytoma and paraganglioma

Ghayee,

Hatch,

Bergeron

et al. 2024

Eur J Clin Investigation

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Malignant carotid body tumors: What we know, what we do, and what we need to achieve. A systematic review of the literature

Piazza,

Lancini,

Tomasoni

et al. 2024

Head & Neck

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Malignant carotid body tumors (MCBT) are rare and diagnosed after detection of nodal or distant metastases. This systematic review (SR) focuses on MCBT initially approached by surgery. Preferred Reporting Items for SR and Meta‐Analysis (MA) guided the articles search from 2000 to 2023 on PubMed, Scopus, and Web of Science. Among 3548 papers, 132 (337 patients) were considered for SR; of these, 20 (158 patients) for MA. Malignancy rate was 7.3%, succinate dehydrogenase (SDH) mutation 17%, age at diagnosis between 4th and 6th decades, with a higher prevalence of females. MCBTs were mostly Shamblin III, with nodal and distant metastasis in 79.7% and 44.7%, respectively. Malignancy should be suspected if CBT >4 cm, Shamblin III, painful or otherwise symptomatic, at the extremes of age, bilateral, with multifocal disease, and SDHx mutations. Levels II–III clearance should be performed to exclude nodal metastases and adjuvant treatments considered on a case‐by‐case basis.

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Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

Cited by 34 publications

References 127 publications

Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing

Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing

Niche for polyamine inhibition in treatment of metastatic pheochromocytoma and paraganglioma

Malignant carotid body tumors: What we know, what we do, and what we need to achieve. A systematic review of the literature

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