BMC Cancer (2018) 18:286. doi: 10.1186/s12885-018-4127-x, 31. doi: 10.1007/s00259-015-3029-2, 105. PPGLs can be classified according to their biochemical profile. 179–207. J Mol Med. Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. 763–754. Ginj M, Zhang H, Waser B, Cescato R, Wild D, Wang X., et al. Peptide receptor radionuclide therapy with (90)Y/ (177)Lu-labelled peptides for inoperable head and neck paragangliomas (glomus tumours). These mutations caused defects on the proline residues at the hydroxylation site of HIF-2α leading to its reduced degradation and stabilization (8, 9). Toledo RA, Qin Y, Cheng ZM, Gao Q, Iwata S, Silva GM, et al. Higher limits for E/MN along with lower limits for NE/NMN were seen in children when compared with adults (85). Table 1. (2011) 18:97–111. Articles, Icahn School of Medicine at Mount Sinai, United States, Instituto Estadual do Cérebro Paulo Niemeyer (IECPN), Brazil. INTRODUCTION. doi: 10.1055/s-0032-1311637, 104. doi: 10.1002/1097-0142(19901115)66:10 < 2129::AID-CNCR2820661015>3.0.CO;2-T, 94. Surgery (1993) 114:107–11. K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Endocrinol. 26. (2014) 99:E369–73. doi: 10.1210/jc.2014-1659. Puranik AD, Kulkarni HR, Singh A, Baum RP. doi: 10.1677/ERC-10-0211, 71. Highly increased 125I-JR11 antagonist binding in vitro reveals novel indications for sst2 targeting in human cancers. |, Proposed Classification for New Genes According to TCGA, Creative Commons Attribution License (CC BY). Recurrent mutations of chromatin-remodeling genes and kinase receptors in pheochromocytomas and paragangliomas. Ann Otolaryngol Chir Cervicofac. Cancer Cell (2005) 8:143–53. Carney JA. Clynes D, Gibbons RJ. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines ®) are posted with the latest update date and version number. (2002) 87:1955–60. (2012) 44:411–4. Combined endovascular and surgical treatment of head and neck paragangliomas–a team approach. Nucleic Acids Res. MAML3 (4q.31.1) is an oncogene that had been previously associated with other tumor types (44, 45). Nat Genet. doi: 10.2967/jnumed.112.102764, 110. The involvement of the Krebs cycle and the respiratory chain, mainly represented by the involvement of succinate dehydrogenase (SDH) in the etiology of PPGL, is perhaps the most important discovery in this area. 5. van Duinen N, Steenvoorden D, Kema IP, Jansen JC, Vriends AH, Bayley JP, et al. This is due to the high affinity of the radiolabeled compound for the SSTR type 2 (SSTR2) (93) that can more accurately predict a tumor response to treatment to radiolabeled somatostatin analogs in patients with avidity for the tracer. Enlund F, Behboudi A, Andrén Y, Oberg C, Lendahl U, Mark J, et al. E- Dopaminergic phenotype: These PPGLs are characterized by high levels of DA/3-methoxytyramine (3-MT) with normal or near-normal levels of E/MN and NE/NMN (75, 76). Surgery (2017) 161:220–7. Unr, a cytoplasmic RNA-binding protein with cold-shock domains, is involved in control of apoptosis in ES and HuH7 cells. J Intern Med. Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors. Exp Cell Res. (2017) 37:805–12. Magnetic resonance imaging (MRI) is recommended for children, pregnant women, or patients with HNPGL or metastatic disease. Extra-adrenal pheochromocytoma. Cerami E, Gao J, Dogrusoz U, Gross BE, Sumer SO, Aksoy BA, et al. In 2015, Cascon et al. Pacak K, Jochmanova I, Prodanov T, Yang C, Merino MJ, Fojo T, et al. The latest Endocrine Society Guidelines (83) emphasize that consideration for any imaging modality in PPGLs requires prior positive biochemical evidence of disease except for the presence of personal or family history of HNPGL related or not to a hereditary form of the disease. PHD1 (EGLN2) encodes PHD1 enzyme, which in normal oxygen conditions hydroxylates specific proline residues of the HIF-α subunits for their subsequent degradation by proteasome. When evaluating pediatric patients with PPGL, considerations for age-adjusted reference values are crucial to determine the tests positivity. (2012) 124:615–25. The association of CSDE1 to PPGL was recently described by TCGA group in a cohort study of 176 PPGL patients, in which four were found to have a somatic mutation— two frameshift, and two splice-site—, in CSDE1 (15). Eur J Nucl Med Mol Imaging (2016) 43:1784–91. Regarding pharmacokinetics and dosimetry, DOTA-JR11 showed very promising results when tested in human embryonic kidney cells with a higher uptake and longer tumor residence time. The utility of functional imaging using somatostatin analogs, was recently extended and exploited to open new doors for targeted radiotherapy using the both 177Lutetium (177Lu) or 90Yttrium (90Y). Superiority of [68Ga]-DOTATATE PET/CT to other functional imaging modalities in the localization of SDHB-associated metastatic pheochromocytoma and paraganglioma. were the first to identify a gain-of-function somatic mutation in exon 12 of EPAS1 (G1588A and C1589T) in patients with PPGLs. Additionally, the availability of new functional imaging tools and advances in targeted radionuclide therapy have improved diagnostic accuracy and provided us with new therapeutic options. Impact Factor 3.644 | CiteScore 3.4More on impact ›, What's New in Endocrinology? 9:515. doi: 10.3389/fendo.2018.00515. However, these results are intriguing as another study reported that the sensitivity of 68Ga-DOTATATE PET/CT is lower for abdominal lesions in children, with a detection rate of 66.7% (100, 101), warranting additional larger studies in this population. This patient presented with bilateral PCCs and developed bladder and several periaortic PGLs later. (2016) 22:2301–10. Eur J Endocrinol. (2015) 21:3888–95. Virchows Arch A Pathol Anat Histopathol. With respect to FH-related tumors, in a patient reported 68Ga-DOTATATE PET/CT showed an overall detection of 66% when compared to 18F-FDOPA PET/CT (98). Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. analyzed 43 samples of 41 patients using exome or transcriptome sequencing and detected a postzygotic H3F3A mutation in three tumors from one patient with a history of recurrent GCT. Functional imaging signature of patients presenting with polycythemia/paraganglioma syndromes. MCC, 4th edition. (1993) 54:616–20. (2007) 3:744–5. In the preclinical setting, DOTA-JR11 was superior to 177Lu in H69 cell lines, and in vivo therapy experiments achieved a higher uptake, median survival rate, and a longer delay in tumor growth (110). The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Pheochromocytoma (PCC) and sympathetic paraganglioma (PGL) are rare neuroendocrine tumors characterized by catecholamine production in the adrenal medulla and extra-adrenal paraganglia. Pai R, Manipadam MT, Singh P, Ebenazer A, Samuel P, Rajaratnam S. Usefulness of Succinate dehydrogenase B (SDHB) immunohistochemistry in guiding mutational screening among patients with pheochromocytoma-paraganglioma syndromes. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). J Clin Endocrinol Metab. Yang C, Zhuang Z, Fliedner SM, Shankavaram U, Sun MG, Bullova P., et al. However, based on their signaling pathways, we believe that all three should be included as part of the cluster 1 or pseudohypoxia signaling group for future updates. doi: 10.1016/j.ccr.2013.04.018, 49. doi: 10.1002/hed.10068, 66. Genes Dev. Many discoveries over the last decade have significantly improved our understanding of the disease. However, if metastatic disease is confirmed, the use of 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography hybridized with CT (PET/CT) is preferred (83). Nilsson H, Jögi A, Beckman S, Harris AL, Poellinger L, Påhlman S. HIF-2alpha expression in human fetal paraganglia and neuroblastoma: relation to sympathetic differentiation, glucose deficiency, and hypoxia. In addition, other PPGL-related genes have been discovered and there are currently over 22 susceptibility genes identified. Janssen I, Blanchet EM, Adams K, Chen CC, Millo CM, Herscovitch P, et al. Pacak K, Ilias I, Adams KT, Eisenhofer G. Biochemical diagnosis, localization and management of pheochromocytoma: focus on multiple endocrine neoplasia type 2 in relation to other hereditary syndromes and sporadic forms of the tumour. N Engl J Med. 4. doi: 10.1093/nar/gku564, 62. 15
Pheochromocytoma and paraganglioma (PPGL) are rare tumours and at least 30% are part of hereditary syndromes. Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas. Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia. Liu XY, Gerges N, Korshunov A, Sabha N, Khuong-Quang DA, Fontebasso AM, et al. The identification of new hereditary forms of PPGL has led to the highest rate of germline susceptibility in cancer genetics at almost 40% (6, 7). Further validation in a cohort of 58 additional samples obtained showed an accumulated frequency of 6.9% (4/58) of missense somatic mutations in H-RAS: G13R (n = 1), Q61K (n = 1), and Q61R (n = 2) (11). Sustained hypertension and tachycardia are the most common symptoms. Hum Mol Genet. Subsequent tumor DNA sequencing revealed a somatic, loss of function mutation in IRP1 located on exon 3 splicing site (16). Nucleic Acids Res. A value three times the upper range of normal is a positive result. doi: 10.1073/pnas.0507200102, 60. Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas. N Engl J Med. RA: writing and editing MS, creating Table 1 and Figure 3, proposing the idea of an update in the biochemical classification; AS: writing MS; IT: writing, editing and reviewing MS, creating Figures 1, 2; KP: creating outline and reviewing MS. Dalm SU, Nonnekens J, Doeswijk GN, de Blois E, van Gent DC, Konijnenberg MW, et al. Somatic mutations have been reported in association with co-existing mutations in the isocitrate dehydrogenase 1 and 2 (IDH 1/2) genes in both adult and pediatric patients with astrocytic tumors (64). Patients typically present with multiple cutaneous leiomyomatosis (MCUL). We would like to thank the NIH for the enormous support in patient care and research of this disease Library Writing Center for manuscript editing assistance; In addition, we wish to thank Ying Pang for reviewing the IRP1 section. Pharmacol Rev. (2016) 209:272–7. Mutations of genes that encode any of the subunits A, B, C, or D or the complex assembly factor 2 (AF2) account for a group of overlapping yet distinct hereditary syndromes termed SDHx. 78. van Duinen N, Corssmit EP, de Jong WH, Brookman D, Kema IP, Romijn JA. PHD1 should therefore be classified as cluster 1-VHL/EPAS1-related gene. (2017) 376:1391–2. Multicentric giant cell tumor of bone and paraganglioma: a case report. 76. Nat Commun. Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors in the adrenal medulla and extra-adrenal paraganglia. In 2008, Ladroue et al. (2010) 95:209–14. It is used as screening tool where negative IHC for a gene can serve as an indirect indicator of the presence of a mutation in the gene of interest. Located on chromosome 11p.15.5, H-RAS is a proto-oncogene that, encodes H-RAS factor (also known as transforming protein p21). doi: 10.1530/EJE-13-0529. Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. doi: 10.1007/s12020-017-1300-y, 85. Ito Y, Fujimoto Y, Obara T. The role of epinephrine, norepinephrine, and dopamine in blood pressure disturbances in patients with pheochromocytoma. Pheochromocytoma and paraganglioma: an Endocrine Society clinical practice guideline. While MDH2 is a part of the TCA cycle, both PHD1 (EGLN2) and IRP1 belong to the VHL/EPAS1-related subtype (Figure 1) and have been very recently described. Sagman U, Mullen JB, Kovacs K, Kerbel R, Ginsberg R, Reubi JC. Multiplicity regarding mosaicism underlines also in some syndromes (8, 9, 17, 18). doi: 10.1038/sj.onc.1210068, 43. Archier A, Varoquaux A, Garrigue P, Montava M, Guerin C, Gabriel S., et al. J Nucl Med. When available, the cost of testing is often a barrier for wide implementations of WES. doi: 10.1210/jc.2014-1659, 35. Nicolas GP, Mansi R, McDougall L, Kaufmann J, Bouterfa H, Wild D, et al. Pacak K, Eisenhofer G, Ilias I. The genotype-phenotype correlation shown in many studies often dictates the clinical presentation of syndromic forms of the disease. The value of plasma markers for the clinical behaviour of phaeochromocytomas. A recent meta-analysis done by Därr et al., compared the accuracy of plasma and urine metanephrines in 1,039 patients with PPGL. Current ongoing clinical trials in PPGL will determine safety, tolerability profile, and also efficacy in terms of clinical benefit and control of disease. Cancer Cell. Nat Commun. (2005) 14:2231–9. In many cases these patients are found to have hyperglycemia and hyperlipidemia secondary to the stimulus of lipolysis, glycogenolysis, and gluconeogenesis (68). (2017) 115:425–34. doi: 10.1210/jc.2017-02324, 100. doi: 10.1158/1078-0432.CCR-15-1841, 29. doi: 10.1210/jc.2009-1156, 18. Pheochromocytoma-paraganglioma (PPGL) syndromes are rapidly evolving entities in endocrinology and oncology. Endocrinol., 27 November 2018
As a result, The Cancer Genomic Atlas (TCGA) group proposed a comprehensive system to classify PPGL-susceptibility genes into a molecular level. doi: 10.1056/NEJMoa1205119, 10. Elevated levels of DA/3MT together with NE have been reported in approximately 65% of patients with SDHx mutations, especially in SDHB (76, 82). Up to 40% of chromaffin tumors are associated with hereditable tumor syndromes (2–5). 15–17 The pathological picture includes myofibrillar disruption, high intracellular ionized calcium concentrations, and contraction band necrosis, reflecting direct toxic effects of catecholamines via adrenoceptor occupation on myocardial cells, rather than indirect effects via … EPAS1 (HIF2A) is an oncogene that encodes the EPAS1; a transcription factor related to oxygen level responses (35). These include the finding of new hereditary forms of PPGL and their associated susceptibility genes. Superiority of (68)Ga-DOTATATE over (18)F-FDG and anatomic imaging in the detection of succinate dehydrogenase mutation (SDHx)-related pheochromocytoma and paraganglioma in the pediatric population. N Engl J Med. Currently, an ongoing clinical trial for metastatic and unresectable progressive, well-differentiated carcinoid is trying to elucidate the role of SSTR antagonist DOTA-JR11 both in diagnostic and therapeutic settings (NCT02609737). (2010) 38:e178. Dormoy-Raclet V, Markovits J, Malato Y, Huet S, Lagarde P, Montaudon D, et al. Pheochromocytomas (PCCs) are tumors of the chromaffin cells that arise within the adrenal medulla. Jha A, Ling A, Millo C, Gupta G, Viana B, Lin FI, et al. Genetics and clinical profile for the newly discovered forms of PPGLs. Each of these genes mutations affects a specific metabolic pathway. Janssen I, Chen CC, Millo CM, Ling A, Taieb D, Lin FI., et al. Kernohan KD, Vernimmen D, Gloor GB, Berube NG. *Correspondence: Karel Pacak, karel@mail.nih.gov, Front. (2018) 24:3423–32. Copyright © 2018 Alrezk, Suarez, Tena and Pacak. European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma external link opens in a new window More guidelines Finally, cluster 3 would be implemented with both CSDE1 and UBFT fusion at MAML3. Schiesser M, Veit-Haibach P, Muller MK, Weber M, Bauerfeind P, Hany T, et al. doi: 10.1210/jc.2003-031091, 88. reported somatic ATRX mutations in two SDHB-related frozen tumors. doi: 10.1016/j.gde.2013.01.005, 61. Histones are responsible for nucleosome formation, and as a chromatin regulator, mutations of this gene will affect DNA methylation, chromatin remodeling, or nucleosome positioning (54). (2015) 6:6140. doi: 10.1038/ncomms7140, 30.
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