دورية أكاديمية
EPAS1-mutated paragangliomas associated with haemoglobin disorders.
| العنوان: | EPAS1-mutated paragangliomas associated with haemoglobin disorders. |
|---|---|
| المؤلفون: | Mancini M; Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France., Buffet A; Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France.; Département de Médecine Génomique des Tumeurs et des Cancers, Fédération de Génétique et de Médecine Génomique, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Hôpital Européen Georges Pompidou, Paris, France., Porte B; Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France., Amar L; Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France.; Service d'Hypertension artérielle, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Hôpital Européen Georges Pompidou, Paris, France., Lussey-Lepoutre C; Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France.; Service de Médecine Nucléaire, Sorbonne Université, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Crinière L; Service d'endocrinologie, CHRU Bretonneau, Tours, France., Baudin E; Service de Médecine Nucléaire, Gustave Roussy, Villejuif, France., Meatchi T; Service d'anatomie pathologique, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Hôpital Européen Georges Pompidou, Paris, France., Gimenez-Roqueplo AP; Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France.; Département de Médecine Génomique des Tumeurs et des Cancers, Fédération de Génétique et de Médecine Génomique, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Hôpital Européen Georges Pompidou, Paris, France., Favier J; Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France., Burnichon N; Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France.; Département de Médecine Génomique des Tumeurs et des Cancers, Fédération de Génétique et de Médecine Génomique, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Hôpital Européen Georges Pompidou, Paris, France. |
| المصدر: | British journal of haematology [Br J Haematol] 2024 Mar; Vol. 204 (3), pp. 1054-1060. Date of Electronic Publication: 2024 Jan 09. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Oxford : Wiley-Blackwell Original Publication: Oxford : Blackwell Scientific Publications |
| مواضيع طبية MeSH: | Adrenal Gland Neoplasms* , Hemoglobinopathies* , Paraganglioma*/genetics , Paraganglioma*/pathology, Humans ; Hemoglobins/genetics ; Hypoxia/genetics ; Mutation |
| مستخلص: | We report a large series of 40 patients presenting EPAS1-mutated paraganglioma (PGL) in whom we investigated a cause underlying chronic hypoxia. Four patients suffered from hypoxaemic heart disease. In patients with available haemoglobin electrophoresis results, 59% presented with a haemoglobin disorder, including six with sickle cell disease, five with sickle cell trait and two with heterozygous haemoglobin C disease. Histological and transcriptomic characterization of EPAS1 tumours revealed increased angiogenesis and high similarities with pseudohypoxic PGLs caused by VHL gene mutations. Sickle haemoglobinopathy carriers could thus be at increased risk for developing EPAS1-PGLs, which should be taken into account in their management and surveillance. (© 2024 British Society for Haematology and John Wiley & Sons Ltd.) |
| References: | N. G. S. in PPGL Study Group, Toledo RA, Burnichon N, Cascon A, Benn DE, Bayley JP, et al. Consensus statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nat Rev Endocrinol. 2017;13(4):233-247. Ben Aim L, Pigny P, Castro-Vega LJ, Buffet A, Amar L, Bertherat J, et al. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma. J Med Genet. 2019;56(8):513-520. Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, Johnson AR, et al. Comprehensive molecular characterization of pheochromocytoma and paraganglioma. Cancer Cell. 2017;31(2):181-193. Curras-Freixes M, Pineiro-Yanez E, Montero-Conde C, Apellaniz-Ruiz M, Calsina B, Mancikova V, et al. PheoSeq: a targeted next-generation sequencing assay for pheochromocytoma and paraganglioma diagnostics. J Mol Diagn. 2017;19(4):575-588. Buffet A, Smati S, Mansuy L, Menara M, Lebras M, Heymann MF, et al. Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome. J Clin Endocrinol Metab. 2014;99(2):E369-E373. Zhuang Z, Yang C, Lorenzo F, Merino M, Fojo T, Kebebew E, et al. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med. 2012;367(10):922-930. Toledo RA, Qin Y, Srikantan S, Morales NP, Li Q, Deng Y, et al. In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. Endocr Relat Cancer. 2013;20(3):349-359. Favier J, Gimenez-Roqueplo AP. Pheochromocytomas: the (pseudo)-hypoxic hypothesis. Best Pract Res Clin Endocrinol Metab. 2010;24(6):957-968. Astrom K, Conen JE, Willett-Brozick JE, Aston CE, Baysal BE. Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Hum Genet. 2003;113(3):228-237. Vaidya A, Flores SK, Cheng Z-M, Nicolas M, Deng Y, Opotowsky AR, et al. EPAS1 mutations and paragangliomas in cyanotic congenital heart disease. N Engl J Med. 2018;378(13):1259-1261. Tarade D, Robinson CM, Lee JE, Ohh M. HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease. Nat Commun. 2018;9(1):3359. Morin A, Goncalves J, Moog S, Castro-Vega L-J, Job S, Buffet A, et al. TET-mediated hypermethylation primes SDH-deficient cells for HIF2α-driven mesenchymal transition. Cell Rep. 2020;30(13):4551-4566.e7. Burnichon N, Vescovo L, Amar L, Libé R, de Reynies A, Venisse A, et al. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet. 2011;20(20):3974-3985. Letouze E, Martinelli C, Loriot C, Burnichon N, Abermil N, Ottolenghi C, et al. SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell. 2013;23(6):739-752. White G, Nonaka D, Chung T-T, Oakey RJ, Izatt L. Somatic EPAS1 variants in phaeochromocytoma and paraganglioma in patients with sickle cell disease. J Clin Endocrinol Metab. 2023;108(12):3302-3310. Pinto VM, De Franceschi L, Gianesin B, Gigante A, Graziadei G, Lombardini L, et al. Management of the sickle cell trait: an opinion by expert panel members. J Clin Med. 2023;12(10):3441. Martin TW, Weisman IM, Zeballos RJ, Stephenson SR. Exercise and hypoxia increase sickling in venous blood from an exercising limb in individuals with sickle cell trait. Am J Med. 1989;87(1):48-56. Marsh AM, Quirolo KC, Golden C, Vichinsky E. Renal medullary carcinoma in an adolescent with homozygous hemoglobin SS. Blood. 2012;120(21):4774. Fisher EA, Hubbard TW, Byrd RL, Solhaug MJ. Management of pheochromocytoma in sickle cell disease: case report. Va Med. 1988;115(2):80-82. Pattison J, Harrop-Griffiths AW, Whitlock JE, Roberts JC. Caesarean section in a patient with haemoglobin SC disease and a phaeochromocytoma. Anaesthesia. 1990;45(11):958-959. Myers B, Donohue SM. A case of sickle-cell erythrocytosis occurring following renal transplantation. Clin Lab Haematol. 2002;24(3):175-177. Donnelly JC, Cooley SM, O'Connell MP, Murphy JF, Keane DP. Pheochromocytoma, sickle cell disease and pregnancy: a case report. J Matern Fetal Neonatal Med. 2003;14(5):353-355. Browne I, Brady I, Hannon V, McKeating K. Anaesthesia for phaeochromocytoma and sickle cell disease in pregnancy. Int J Obstet Anesth. 2005;14(1):66-69. Welander J, Andreasson A, Brauckhoff M, Bäckdahl M, Larsson C, Gimm O, et al. Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma. Endocr Relat Cancer. 2014;21(3):495-504. |
| معلومات مُعتمدة: | Association Surrénales; Equipe Labellisée Ligue Contre le Cancer; INCa-DGOS_8663 Institut National Du Cancer; 633983 H2020 European Union's Horizon 2020 Research and Innovation Program |
| فهرسة مساهمة: | Keywords: EPAS1; haemoglobin disorders; paraganglioma; sickle cell disease |
| المشرفين على المادة: | 0 (Hemoglobins) 1B37H0967P (endothelial PAS domain-containing protein 1) |
| تواريخ الأحداث: | Date Created: 20240110 Date Completed: 20240314 Latest Revision: 20240315 |
| رمز التحديث: | 20240315 |
| DOI: | 10.1111/bjh.19278 |
| PMID: | 38195958 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder كن أول من يترك تعليقا!