SDHB, SDHC, and SDHD Mutations in Head and Neck Paragangliomas

Introduction: Extirpation of multiple head and neck paragangliomas carries challenge due to close anatomic relationships with critical neurovascular bundles. Objectives: This study aims to assess whether the application of 3-D models can assist with surgical planning and treatment of these paragangliomas, decrease surgically related morbidity and mortality. Methods: Fourteen patients undergoing surgical resection of multiple head and neck paragangliomas were enrolled in this study. A preoperative 3-D model was created based on radiologic data, and relevant critical anatomic relationships were preoperatively assessed and intraoperatively validated. Results: All 14 patients presented with multiple head and neck paragangliomas, including bilateral carotid body tumors (CBT, n = 9), concurrent CBT with glomus jugulare tumors (GJT, n = 4), and multiple vagal paragangliomas (n = 1). Ten patients underwent genomic analysis and all harbored succinate dehydrogenase complex subunit D (SDHD) mutations. Under guidance of the 3-D model, the internal carotid artery (ICA) was circumferentially encased by tumor on 5 of the operated sides, in 4 (80%) of which the tumor was successfully dissected out from the ICA, whereas ICA reconstruction was required on one side (20%). Following removal of CBT, anterior rerouting of the facial nerve was avoided in 3 (75%) of 4 patients during the extirpation of GJT with assistance of a 3-D model. Two patients developed permanent postoperative vocal cord paralysis. There was no vessel rupture or mortality in this study cohort. Conclusion: The 3-D model is beneficial for establishment of a preoperative strategy, as well as planning and guiding the intraoperative procedure for resection of multiple head and neck paragangliomas.

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Soluble Endoglin (CD105) Serum Level as a Potential Marker in the Management of Head and Neck Paragangliomas

Annals of Otology Rhinology & Laryngology ◽

10.1177/0003489417727548 ◽

2017 ◽

Vol 126 (10) ◽

pp. 717-721 ◽

Cited By ~ 4

Author(s):

Małgorzata Litwiniuk ◽

Kazimierz Niemczyk ◽

Justyna Niderla-Bielińska ◽

Izabela Łukawska-Popieluch ◽

Tomasz Grzela

Keyword(s):

Serum Level ◽

Head And Neck ◽

Potential Marker ◽

Soluble Endoglin ◽

Head And Neck Paragangliomas

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Urinary 5-HIAA Excretion is not Increased in Patients with Head and Neck Paragangliomas

The International Journal of Biological Markers ◽

10.5301/jbm.2012.9312 ◽

2012 ◽

Vol 27 (2) ◽

pp. 160-163 ◽

Cited By ~ 1

Author(s):

Leonie T. Van Hulsteijn ◽

Nicolette Van Duinen ◽

Johannes A. Romijn ◽

Johannes W.A. Smit ◽

Eleonora P.M. Corssmit

Keyword(s):

Urinary Excretion ◽

Head And Neck ◽

Reference Range ◽

Excretion Rate ◽

Case Reports ◽

Catecholamine Excess ◽

Hydroxyindoleacetic Acid ◽

Excretion Rates ◽

Almost All ◽

Head And Neck Paragangliomas

Background Case reports have documented carcinoid-like features in head and neck paragangliomas (HNPGLs), which, in addition to catecholamine storing granules, may also contain granules with serotonin. Serotonin is metabolized to 5-hydroxyindoleacetic acid (5-HIAA). Aim To assess the urinary excretion rates of 5-HIAA and catecholamines in HNPGL patients. Methods In 114 consecutive HNPGL patients, normetanephrine, metanephrine, norepinephrine, epinephrine, VMA, dopamine, 3-methoxytyramine and 5-HIAA excretion rates were measured in two 24-hour urinary samples. Increased excretion rates were defined as an increase of the average hormone excretion rate of 2 urine samples above the reference range. In all patients with catecholamine excess, intrathoracic and abdominal paragangliomas were excluded by 123I-MIBG scintigraphy, MRI and/or CT. Genetic screening for mutations in genes of the succinate dehydrogenase (SDH) family was performed. Results Mean urinary 5-HIAA excretion rate was 14±9 μmol/24 hours (reference range 10–44 μmol/24 hours). Urinary 5-HIAA excretion was slightly increased in only 1 patient (48 μmol/24 hours). None of the 50 patients (44%) with increased urinary excretion rates of catecholamines and/or their metabolites had elevated 5-HIAA excretion. Conclusion Urinary 5-HIAA excretion is within the normal reference range in almost all HNPGL patients. Therefore, this parameter has no clinical relevance in the routine clinical assessment of HNPGL patients.

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Head and neck paragangliomas: A two-decade institutional experience and algorithm for management

Laryngoscope Investigative Otolaryngology ◽

10.1002/lio2.122 ◽

2017 ◽

Vol 2 (6) ◽

pp. 380-389 ◽

Cited By ~ 22

Author(s):

Joshua D. Smith ◽

Rachel N. Harvey ◽

Owen A. Darr ◽

Mark E. Prince ◽

Carol R. Bradford ◽

...

Keyword(s):

Head And Neck ◽

Institutional Experience ◽

Head And Neck Paragangliomas

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38 Paragangliomas of the Head and Neck Paragangliomas of the head and neck

Comprehensive Management of Skull Base Tumors ◽

10.1055/b-0041-180191 ◽

2021 ◽

Keyword(s):

Head And Neck ◽

Head And Neck Paragangliomas

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SDHB mutated paraganglioma imitating thyroid tumor: A case report and review of literature

Case Reports in Clinical Pathology ◽

10.5430/crcp.v5n2p5 ◽

2018 ◽

Vol 5 (2) ◽

pp. 5

Author(s):

Vygante Maskoliunaite ◽

Gabija Makunaite ◽

Ausra Garnelyte ◽

Agne Abraitiene ◽

Virgilijus Beisa

Keyword(s):

Head And Neck ◽

Screening Method ◽

Thyroid Tumor ◽

Benign Tumors ◽

Review Of Literature ◽

Palpable Mass ◽

Parasympathetic Ganglia ◽

Sdh Mutation ◽

Head And Neck Paragangliomas ◽

Immunohistochemical Testing

Paragangliomas of the head and neck are uncommon tumors arising from parasympathetic ganglia. Paragangliomas are mostly asymptomatic and may manifest as palpable mass of neck. The morphologic features are non-specific and comparable to the other neuroendocrine tumors. Most of hereditary cases are associated with alterations in genes of succinate dehydrogenase (SDH). SDHA and SDHB immunohistochemistry is considered as reliable screening method to detect tumors with genetical alterations. Of note, SDHB mutated paragangliomas have the highest risk of local recurrence, distant metastasis and the development of other tumor phenotypes, which are associated with mutation. Therefore, active surveillance of patients and early surgical treatment are essential. In contrast, SDHB mutated head and neck paragangliomas was considered as completely benign tumors, although, the latest literature describes more controversial cases, which may increase awareness. Here, we present a rare case of 21 years old female with asymptomatic neck paraganglioma, which was unexpectedly diagnosed after pathological and immunohistochemical testing of removed thyroid gland and showed unusual immunohistochemical variation for SDH mutation.

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