U tủy thượng thận ở trẻ em - kiều gen và kiểu hình

Subunit B ◽

Pheochromocytomas (PCC) và Pragangliomas (PLG) là những khối u thần kinh – nội tiết. Khối u tiết catecholamine xuất phát từ tủy thượng thận được gọi là Pheochromocytoma. Khối u có nguồn gốc ngoài thượng thận, có thể tiết catecholamine hoặc không có chức năng, bắt nguồn từ các hạch thần kinh giao cảm hoặc phó giao cảm được gọi là Paraganglioma. Vì biểu hiện lâm sàng của hai nhóm bệnh PCC và PLG có tiết catecholamine tương tự nhau, phương pháp điều trị như nhau, nên trên lâm sàng thuật ngữ PCC (u tủy thượng thận) được dùng để chỉ cả 2 loại khối u. U tủy thượng thận là một bệnh lý hiếm gặp ở trẻ em, ước tính tần suất gặp ở 1 trong 50.000 – 100.000 trẻ. Bệnh có thể xuất hiện đơn độc nhưng cũng có thể kèm theo trong một số hội chứng von Hippel – Lindau, bệnh u xơ thần kinh type 1 (NF1) hay hội chứng Pheochromocytoma – Paragangliomas di truyền. Ở trẻ em, khoảng 60% - 80% nguyên nhân u tủy thượng thận là do di truyền. Tăng huyết áp ác tính là một triệu chứng thường gặp và có thể gây những biến chứng nặng nề. Chúng tôi báo cáo 2 trường hợp trẻ nữ vào viện vì đau đầu dữ dội, nôn, đau bụng và co giật. Trẻ được phát hiện tình trạng cao huyết áp kèm theo có khối u ổ bụng. Chẩn đoán xác định của 2 bệnh nhân là u tủy thượng thận. Trong đó, một bệnh nhân tìm thấy nguyên nhân gây bệnh là do đột biết gen succinate dehydrogenase complex iron sulfur subunit B (SDHB).

Succinate Dehydrogenase Complex Iron Sulfur Subunit B (SDHB) Immunohistochemistry in Pheochromocytoma, Head and Neck Paraganglioma, Thoraco-Abdomino-Pelvic Paragangliomas: Is It a Good Idea to Use in Routine Work?

Asian Pacific Journal of Cancer Prevention ◽

10.31557/apjcp.2021.22.6.1721 ◽

2021 ◽

Vol 22 (6) ◽

pp. 1721-1729

Author(s):

Aylin Gul ◽

Sevinc Keser ◽

Nagehan Barisik ◽

Yesim Gurbuz ◽

Sibel Sensu ◽

...

Keyword(s):

Head And Neck ◽

Succinate Dehydrogenase ◽

Iron Sulfur ◽

Routine Work ◽

Head And Neck Paraganglioma ◽

Subunit B ◽

SDHB (succinate dehydrogenase complex II, subunit B, iron-sulfur protein or IP)

Atlas of Genetics and Cytogenetics in Oncology and Haematology ◽

10.4267/2042/37869 ◽

2011 ◽

Author(s):

AP Gimenez-Roqueplo

Keyword(s):

Succinate Dehydrogenase ◽

Complex Ii ◽

Iron Sulfur ◽

Sulfur Protein ◽

Iron Sulfur Protein ◽

Subunit B ◽

Neck paraganglioma and follicular lymphoma: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-019-2323-1 ◽

2019 ◽

Vol 13 (1) ◽

Author(s):

Lara Marchetti ◽

Luca Perrucci ◽

Francesca D’Ercole ◽

Maria Chiara Zatelli ◽

Maria Rosaria Ambrosio ◽

...

Keyword(s):

Follicular Lymphoma ◽

Succinate Dehydrogenase ◽

Case Presentation ◽

Body Regions ◽

Positron Emission ◽

Succinate Dehydrogenase Subunit B ◽

Work Up ◽

Subunit B ◽

Abstract Background Paragangliomas and pheochromocytomas are sympathetic or parasympathetic tumors derived from the paraganglia and the adrenal medulla, respectively. Paragangliomas and pheochromocytomas can be sporadic or familial, the latter frequently being multifocal and possibly due to succinate dehydrogenase complex genes mutations. In addition, 12% of sporadic paragangliomas are related to covered succinate dehydrogenase complex mutations. The importance of identifying succinate dehydrogenase complex mutations is related to the risk for these patients of developing multiple tumors, including non-endocrine ones, showing an aggressive clinical presentation. Case presentation We report the case of a 45-year-old Caucasian man with an indolent mass in his neck. Ultrasound of his neck, magnetic resonance imaging, and 1,4,7,10-tetraazacyclododecane-N(I),N(II),N(III),N(IIII)-tetraacetic acid(D)-Phe(1)-thy(3)-octreotide (68Ga-DOTATOC) positron emission tomography-computed tomography and endocrine work-up were consistent with a carotid body paraganglioma with concomitant nodal enlargement in several body regions, which turned out to be a follicular lymphoma at histology. He was found to carry a germline Succinate dehydrogenase subunit B gene (SDHB) mutation. Conclusion It is crucial to look for a second malignancy in the case of a paraganglioma demonstrating succinate dehydrogenase complex germline mutations.

Measurements of Plasma Methoxytyramine, Normetanephrine, and Metanephrine as Discriminators of Different Hereditary Forms of Pheochromocytoma

Clinical Chemistry ◽

10.1373/clinchem.2010.153320 ◽

2011 ◽

Vol 57 (3) ◽

pp. 411-420 ◽

Cited By ~ 185

Author(s):

Graeme Eisenhofer ◽

Jacques WM Lenders ◽

Henri Timmers ◽

Massimo Mannelli ◽

Stefan K Grebe ◽

...

Keyword(s):

Succinate Dehydrogenase ◽

Plasma Concentrations ◽

Neurofibromatosis Type ◽

Underlying Disease ◽

Plasma Catecholamine ◽

Von Hippel Lindau ◽

Men 2 ◽

Succinate Dehydrogenase Complex Subunit ◽

BACKGROUND Pheochromocytomas are rare catecholamine-producing tumors derived in more than 30% of cases from mutations in 9 tumor-susceptibility genes identified to date, including von Hippel-Lindau tumor suppressor (VHL); succinate dehydrogenase complex, subunit B, iron sulfur (Ip) (SDHB); and succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD). Testing of multiple genes is often undertaken at considerable expense before a mutation is detected. This study assessed whether measurements of plasma metanephrine, normetanephrine, and methoxytyramine, the O-methylated metabolites of catecholamines, might help to distinguish different hereditary forms of the tumor. METHODS Plasma concentrations of O-methylated metabolites were measured by liquid chromatography with electrochemical detection in 173 patients with pheochromocytoma, including 38 with multiple endocrine neoplasia type 2 (MEN 2), 10 with neurofibromatosis type 1 (NF1), 66 with von Hippel-Lindau (VHL) syndrome, and 59 with mutations of SDHB or SDHD. RESULTS In contrast to patients with VHL, SDHB, and SDHD mutations, all patients with MEN 2 and NF1 presented with tumors characterized by increased plasma concentrations of metanephrine (indicating epinephrine production). VHL patients usually showed solitary increases in normetanephrine (indicating norepinephrine production), whereas additional or solitary increases in methoxytyramine (indicating dopamine production) characterized 70% of patients with SDHB and SDHD mutations. Patients with NF1 and MEN 2 could be discriminated from those with VHL, SDHB, and SDHD gene mutations in 99% of cases by the combination of normetanephrine and metanephrine. Measurements of plasma methoxytyramine discriminated patients with SDHB and SDHD mutations from those with VHL mutations in an additional 78% of cases. CONCLUSIONS The distinct patterns of plasma catecholamine O-methylated metabolites in patients with hereditary pheochromocytoma provide an easily used tool to guide cost-effective genotyping of underlying disease-causing mutations.