paraganglioma

Summary

Summary: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992)

Top Publications

  1. Gill A, Chou A, Vilain R, Clarkson A, Lui M, JIN R, et al. Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. Am J Surg Pathol. 2010;34:636-44 pubmed publisher
    The Carney triad (CT) is gastrointestinal stromal tumor (GIST), paraganglioma, and pulmonary chondroma...
  2. Rufini V, Treglia G, Castaldi P, Perotti G, Calcagni M, Corsello S, et al. Comparison of 123I-MIBG SPECT-CT and 18F-DOPA PET-CT in the evaluation of patients with known or suspected recurrent paraganglioma. Nucl Med Commun. 2011;32:575-82 pubmed publisher
    Detection of recurrent disease is essential for treatment planning in patients with paraganglioma. The aim of this study was to compare 123I-metaiodobenzylguanidine (123I-MIBG) scintigraphy [whole-body and single-photon emission computed ..
  3. Ayala Ramirez M, Feng L, Johnson M, Ejaz S, Habra M, Rich T, et al. Clinical risk factors for malignancy and overall survival in patients with pheochromocytomas and sympathetic paragangliomas: primary tumor size and primary tumor location as prognostic indicators. J Clin Endocrinol Metab. 2011;96:717-25 pubmed publisher
    ..Pheochromocytomas and sympathetic paragangliomas are rare neuroendocrine tumors for which no precise histological or molecular markers have been identified to differentiate benign from malignant tumors...
  4. Nozaki T, Iida H, Tsuritani S, Okumura A, Komiya A, Fuse H. Laparoscopic resection of retrocaval paraganglioma. J Laparoendosc Adv Surg Tech A. 2010;20:363-7 pubmed publisher
    Definitive treatment of paraganglioma is by surgical resection...
  5. Taieb D, Neumann H, Rubello D, Al Nahhas A, Guillet B, Hindie E. Modern nuclear imaging for paragangliomas: beyond SPECT. J Nucl Med. 2012;53:264-74 pubmed publisher
    ..PET has been increasingly used in imaging paraganglioma, paralleled by great efforts toward the development of new tracers...
  6. Mendenhall W, Amdur R, Vaysberg M, Mendenhall C, Werning J. Head and neck paragangliomas. Head Neck. 2011;33:1530-4 pubmed publisher
    ..PGs may be treated by either complete resection or radiotherapy with a high likelihood of success. Treatment depends on the location and extent of the PG and the morbidity associated with treatment. ..
  7. Schiavi F, Demattè S, Cecchini M, Taschin E, Bobisse S, Del Piano A, et al. The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. J Clin Endocrinol Metab. 2012;97:E637-41 pubmed publisher
    ..in Trentino, Italy, of head and neck paragangliomas (HNPGL), a rare autosomal dominant disease called paraganglioma type 1 syndrome and caused by germ-line mutations of the SDHD gene...
  8. Marshall L, Shah P, Yeung S, Mundy J. Synchronous presentation of cardiac and abdominal paragangliomas. Ann Thorac Surg. 2012;93:e115-7 pubmed publisher
    ..Serum catecholamines returned to the normal range postoperatively and all antihypertensive therapy was ceased...
  9. Opocher G, Schiavi F. Genetics of pheochromocytomas and paragangliomas. Best Pract Res Clin Endocrinol Metab. 2010;24:943-56 pubmed publisher
    Pheochromocytoma and paraganglioma are tumors of the sympathetic or parasympathetic paraganglia. Pheochromocytoma is the tumor of the main sympathetic paraganglia, which is the adrenal medulla...

More Information

Publications78

  1. Kantorovich V, King K, Pacak K. SDH-related pheochromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab. 2010;24:415-24 pubmed publisher
    Pheochromocytoma and paraganglioma are rare tumors of adrenals as well as the sympathetic and parasympathetic paraganglia. Clinical presentation of these tumors depends on localization, secretory profile and malignant potential...
  2. Lightfoot N, Santos P, Nikfarjam M. Paraganglioma mimicking a pancreatic neoplasm. JOP. 2011;12:259-61 pubmed
    ..He underwent complete resection by pancreaticoduodenectomy with final pathology confirming a 6 cm paraganglioma without evidence of metastases...
  3. Naji M, Zhao C, Welsh S, Meades R, Win Z, Ferrarese A, et al. 68Ga-DOTA-TATE PET vs. 123I-MIBG in identifying malignant neural crest tumours. Mol Imaging Biol. 2011;13:769-75 pubmed publisher
    ..68)Ga-DOTA-TATE was more likely to detect malignant lesions as indicated by correlating imaging results with SDHB screening. ..
  4. Said Al Naief N, Ojha J. Hereditary paraganglioma of the nasopharynx. Head Neck Pathol. 2008;2:272-8 pubmed publisher
    ..The clinicopathologic features of this unique example of a hereditary, nasopharyngeal paraganglioma, and selective entities that are included in its differential diagnosis are presented.
  5. Okubo Y, Wakayama M, Nemoto T, Kitahara K, Nakayama H, Shibuya K, et al. Literature survey on epidemiology and pathology of gangliocytic paraganglioma. BMC Cancer. 2011;11:187 pubmed publisher
    Although gangliocytic paraganglioma (GP) has generally been regarded as a neuroendocrine tumor, its origin remains unclear...
  6. Djurhuus B, Krogdahl A, Godballe C. [Tracheal paraganglioma in pregnant woman]. Ugeskr Laeger. 2010;172:2040-1 pubmed
    b>Paraganglioma with tracheal location is a rare tumor. Twelve cases with involvement of the trachea have been reported in English literature, including six cases of solely tracheal paragangliomas...
  7. Yao L, Schiavi F, Cascon A, Qin Y, Inglada Pérez L, King E, et al. Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA. 2010;304:2611-9 pubmed publisher
    ..Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms...
  8. Hensen E, Siemers M, Jansen J, Corssmit E, Romijn J, Tops C, et al. Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. Clin Endocrinol (Oxf). 2011;75:650-5 pubmed publisher
    ..The aim of this study was to evaluate SDH mutations, family history and phenotypes of patients with HNPGL in the Netherlands...
  9. Rattenberry E, Vialard L, Yeung A, Bair H, McKay K, Jafri M, et al. A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. 2013;98:E1248-56 pubmed publisher
    ..Pheochromocytomas and paragangliomas are notable for a high frequency of inherited cases, many of which present as apparently sporadic tumors...
  10. Naswa N, Sharma P, Nazar A, Agarwal K, Kumar R, Ammini A, et al. Prospective evaluation of ??Ga-DOTA-NOC PET-CT in phaeochromocytoma and paraganglioma: preliminary results from a single centre study. Eur Radiol. 2012;22:710-9 pubmed publisher
    ..10-tetraazacyclododecane-1, 4, 7, 10-tetraacetic acid]-1-NaI(3)-Octreotide ((68)Ga-DOTA-NOC) whole body positron emission tomography-computed tomography (PET-CT) as a functional imaging approach for phaeochromocytoma and paraganglioma.
  11. Eisenhofer G, Lenders J, Siegert G, Bornstein S, Friberg P, Milosevic D, et al. Plasma methoxytyramine: a novel biomarker of metastatic pheochromocytoma and paraganglioma in relation to established risk factors of tumour size, location and SDHB mutation status. Eur J Cancer. 2012;48:1739-49 pubmed publisher
    ..Plasma methoxytyramine is a novel biomarker for metastatic PPGLs that together with SDHB mutation status, tumour size and location provide useful information to assess the likelihood of malignancy and manage affected patients. ..
  12. Venkatesan A, Trivedi H, Adams K, Kebebew E, Pacak K, Hughes M. Comparison of clinical and imaging features in succinate dehydrogenase-positive versus sporadic paragangliomas. Surgery. 2011;150:1186-93 pubmed publisher
    ..These findings may warrant genetic screening. Because SDHB+ patients demonstrate more supradiaphragmatic lesions, whole-body imaging may be of particular value in these patients. ..
  13. Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar A, et al. Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. Clin Endocrinol (Oxf). 2013;78:898-906 pubmed publisher
    Research studies have reported that about a third of individuals with phaeochromocytoma/paraganglioma (PPGL) have an inherited predisposition, although the frequency of specific mutations can vary between populations...
  14. van Hulsteijn L, Dekkers O, Hes F, Smit J, Corssmit E. Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis. J Med Genet. 2012;49:768-76 pubmed publisher
    ..of this study was to perform a systematic review and meta-analysis on the risk of developing malignant paraganglioma (PGL) in SDHB-mutation and SDHD-mutation carriers...
  15. Dahia P. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer. 2014;14:108-19 pubmed publisher
    ..Hereditary pheochromocytomas and paragangliomas are powerful models for recognizing cancer driver events, which can be harnessed for diagnostic purposes and for guiding the future development of targeted therapies. ..
  16. Uchida D, Ogawa T, Ueki T, Kominami Y, Numata N, Matsusita H, et al. [A case of gangliocytic paraganglioma with lymphoid metastasis]. Nihon Shokakibyo Gakkai Zasshi. 2010;107:1456-65 pubmed
    ..These endoscopic findings were thought to be characteristic of gangliocytic paraganglioma. CT scan revealed suspected lymph node metastasis, thus the tumor was resected with pancreaticoduodenectomy ..
  17. Gimenez Roqueplo A, Dahia P, Robledo M. An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res. 2012;44:328-33 pubmed publisher
    ..Most familial cases of pheochromocytoma and/or paraganglioma and 10-20% sporadic cases carry germline mutations in VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, ..
  18. 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;367:922-30 pubmed publisher
    ..mutations in the gene encoding hypoxia-inducible factor 2α (HIF2A) in two patients, one presenting with paraganglioma and the other with paraganglioma and somatostatinoma, both of whom had polycythemia...
  19. Faria J, Valente V, Lima P, Silva J, Polonia J. Paraganglioma--a case of secondary hypertension. Rev Port Cardiol. 2010;29:1583-9 pubmed
    ..The mass was excised by laparotomy and the diagnosis of paraganglioma was confirmed. In postoperative follow-up the patient's blood pressure and catecholamine levels had normalized.
  20. Al Githmi I, Baslaim G, Batawil N. Primary cardiac paraganglioma with dual coronary blood supply presenting with angina chest pain. Can J Cardiol. 2010;26:e278-9 pubmed
    Primary cardiac paraganglioma (pheochromocytoma) is very rare, constituting only 1% of cardiac tumours...
  21. Schimke R, Collins D, Stolle C. Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. Am J Med Genet A. 2010;152A:1531-5 pubmed publisher
    Familial paraganglioma/pheochromocytoma (PGL/PCC) is genetically heterogenous with mutations in three of the four subunits of the heterotetrameric mitochondrial complex II enzyme succinate dehydrogenase (SDH) being causally responsible ..
  22. Galan S, Kann P. Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma. Clin Endocrinol (Oxf). 2013;78:165-75 pubmed publisher
    ..A better understanding of the complexity and high genetic diversity of PCC and PGL may lead to more efficient diagnosis and management of the disease...
  23. Maurice J, Troke R, Win Z, Ramachandran R, Al Nahhas A, Naji M, et al. A comparison of the performance of ??Ga-DOTATATE PET/CT and ¹²³I-MIBG SPECT in the diagnosis and follow-up of phaeochromocytoma and paraganglioma. Eur J Nucl Med Mol Imaging. 2012;39:1266-70 pubmed publisher
    ..To compare the sensitivity of (123)I-metaiodobenzylguanidine (MIBG) SPECT and (68)Ga-DOTATATE PET/CT in detecting phaeochromocytomas (PCC) and paragangliomas (PGL) in the initial diagnosis and follow-up of patients with PCC and PGL disease...
  24. Sharma P, Thakar A, Suman K C S, Dhull V, Singh H, Naswa N, et al. 68Ga-DOTANOC PET/CT for baseline evaluation of patients with head and neck paraganglioma. J Nucl Med. 2013;54:841-7 pubmed publisher
    ..The purpose of this study was to evaluate the role of (68)Ga-labeled DOTANOC PET/CT for baseline evaluation of patients with head and neck paragangliomas (HNPs)...
  25. de Cubas A, Leandro García L, Schiavi F, Mancikova V, Comino Mendez I, Inglada Pérez L, et al. Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways. Endocr Relat Cancer. 2013;20:477-93 pubmed publisher
    ..Finally, global proteomic analysis in SDHB and MAX tumors allowed us to determine that miRNA regulation occurs primarily through mRNA degradation in PCCs/PGLs, which partially confirmed our miRNA-mRNA integration results. ..
  26. Nölting S, Grossman A. Signaling pathways in pheochromocytomas and paragangliomas: prospects for future therapies. Endocr Pathol. 2012;23:21-33 pubmed publisher
    ..Increasing understanding of the germline and somatic mutations leading to pheochromocytoma and paraganglioma development has revealed crucial insights into the molecular pathology of these tumors...
  27. Cascon A, Tennant D. From transcriptional profiling to tumor biology in pheochromocytoma and paraganglioma. Endocr Pathol. 2012;23:15-20 pubmed publisher
    ..summarizes the way in which inherited mutations define global gene expression in pheochromocytoma (PCC) and paraganglioma (PGL), and how the use of gene expression analysis has advanced our understanding of these diseases...
  28. Kwon J, Lee S, Kang M, Jang J, Kim S. A case of gangliocytic paraganglioma in the ampulla of Vater. World J Surg Oncol. 2010;8:42 pubmed publisher
    Duodenal gangliocytic paraganglioma is an extremely rare tumor and few cases have been reported to date.
  29. Vicha A, Musil Z, Pacak K. Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options. Curr Opin Endocrinol Diabetes Obes. 2013;20:186-91 pubmed publisher
    To summarize the recent advances in the genetics of pheochromocytoma and paraganglioma (PHEO/PGL), focusing on the new susceptibility genes and dividing PHEOs/PGLs into two groups based on their transcription profile...
  30. Hes F, Weiss M, Woortman S, de Miranda N, van Bunderen P, Bonsing B, et al. Low penetrance of a SDHB mutation in a large Dutch paraganglioma family. BMC Med Genet. 2010;11:92 pubmed publisher
    ..We evaluate the phenotype and penetrance of a germline SDHB mutation in a large and clinically well-characterized paraganglioma family.
  31. Sandgren J, Díaz de Ståhl T, Andersson R, Menzel U, Piotrowski A, Nord H, et al. Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis. Endocr Relat Cancer. 2010;17:561-79 pubmed publisher
  32. Taïeb D, Timmers H, Hindié E, Guillet B, Neumann H, Walz M, et al. EANM 2012 guidelines for radionuclide imaging of phaeochromocytoma and paraganglioma. Eur J Nucl Med Mol Imaging. 2012;39:1977-95 pubmed publisher
    ..Although several radionuclide imaging modalities are considered herein, considerable focus is given to PET imaging which offers high sensitivity targeted molecular imaging approaches. ..
  33. Boedeker C. [Paragangliomas and paraganglioma syndromes]. Laryngorhinootologie. 2011;90 Suppl 1:S56-82 pubmed publisher
    ..The paraganglioma syndromes 1, 3 and 4 (PGL 1, 3 and 4) make up the majority of those familial cases...
  34. Ogata S, Horio T, Sugiura Y, Aiko S, Aida S. Duodenal gangliocytic paraganglioma with regional lymph node metastasis and a glandular component. Pathol Int. 2011;61:104-7 pubmed publisher
    Gangliocytic paraganglioma (GP) is generally considered to be a benign periampullary lesion, although it is unclear whether it should be classified as a hamartoma or as a neoplasm. Here, we present a GP case with lymph node metastasis...
  35. Lenders J, Duh Q, Eisenhofer G, Gimenez Roqueplo A, Grebe S, Murad M, et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014;99:1915-42 pubmed publisher
    The aim was to formulate clinical practice guidelines for pheochromocytoma and paraganglioma (PPGL).
  36. Mazzaglia P. Hereditary pheochromocytoma and paraganglioma. J Surg Oncol. 2012;106:580-5 pubmed publisher
    ..It is now clear that up to 30% of patients presenting with sporadic pheos/pgls harbor a recognizable germline mutation, and therefore directed genetic testing is recommended for many of these patients...
  37. Sarathi V, Pandit R, Patil V, Lia A, Bandgar T, Shah N. Performance of plasma fractionated free metanephrines by enzyme immunoassay in the diagnosis of pheochromocytoma and paraganglioma in children. Endocr Pract. 2012;18:694-9 pubmed publisher
    ..To establish pediatric reference ranges for plasma fractionated free metanephrines by enzyme immunoassay (EIA) and to evaluate its performance in the diagnosis of catecholamine-secreting tumors in the pediatric population...
  38. Lieberson R, Adler J, Soltys S, Choi C, Gibbs I, Chang S. Stereotactic radiosurgery as the primary treatment for new and recurrent paragangliomas: is open surgical resection still the treatment of choice?. World Neurosurg. 2012;77:745-61 pubmed publisher
    ..Paragangliomas (PGs) or glomus tumors are rare, and publications comparing treatment alternatives are few. We sought to analyze our experience with stereotactic radiosurgery (SRS), review the literature, and develop treatment guidelines...
  39. Burnichon N, Buffet A, Parfait B, Letouze E, Laurendeau I, Loriot C, et al. Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. Hum Mol Genet. 2012;21:5397-405 pubmed publisher
    ..SDHC, SDHD, MAX, TMEM127, NF1 or VHL genes are identified in about 30% of patients with pheochromocytoma or paraganglioma and somatic mutations in RET, VHL or MAX genes are reported in 17% of sporadic tumors...
  40. Suarez C, Rodrigo J, Bödeker C, Llorente J, Silver C, Jansen J, et al. Jugular and vagal paragangliomas: Systematic study of management with surgery and radiotherapy. Head Neck. 2013;35:1195-204 pubmed publisher
    The definitive treatment for head and neck paraganglioma (PG) is surgical excision...
  41. Kiss N, Muth A, Andreasson A, Juhlin C, Geli J, Bäckdahl M, et al. Acquired hypermethylation of the P16INK4A promoter in abdominal paraganglioma: relation to adverse tumor phenotype and predisposing mutation. Endocr Relat Cancer. 2013;20:65-78 pubmed publisher
    ..genes (TSGs) and LINE1 (L1RE1) repeat elements were previously reported in pheochromocytoma and abdominal paraganglioma. This study was undertaken to explore CpG methylation abnormalities in an extended tumor panel and assess ..
  42. Bancos I, Bida J, Tian D, Bundrick M, John K, Holte M, et al. High-throughput screening for growth inhibitors using a yeast model of familial paraganglioma. PLoS ONE. 2013;8:e56827 pubmed publisher
    ..A remarkable puzzle is therefore presented by familial paraganglioma (PGL), a neuroendocrine cancer where the tumor suppressor genes encode subunits of succinate dehydrogenase (..
  43. Huo J, Choi J, Deluna A, Lee D, Fleischmann D, Berry G, et al. Cardiac paraganglioma: diagnostic and surgical challenges. J Card Surg. 2012;27:178-82 pubmed publisher
    ..In this case review, we discuss the challenges associated with the diagnosis and management of cardiac paragangliomas...
  44. Barret M, Rahmi G, Duong Van Huyen J, Landi B, Cellier C, Berger A. Duodenal gangliocytic paraganglioma with lymph node metastasis and an 8-year follow-up: a case report. Eur J Gastroenterol Hepatol. 2012;24:90-4 pubmed publisher
    Gangliocytic paraganglioma (GP) is a rare tumor, usually located in the second part of the duodenum...
  45. Chen H, Sippel R, O DORISIO M, Vinik A, Lloyd R, Pacak K. The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. Pancreas. 2010;39:775-83 pubmed publisher
    Pheochromocytomas, intra-adrenal paraganglioma, and extra-adrenal sympathetic and parasympathetic paragangliomas are neuroendocrine tumors derived from adrenal chromaffin cells or similar cells in extra-adrenal sympathetic and ..
  46. Tuncel A, Aslan Y, Han O, Horasanli E, Seckin S, Atan A. Laparoscopic resection of periadrenal paraganglioma mimicking an isolated adrenal hydatid cyst. JSLS. 2010;14:579-82 pubmed publisher
    We present the case of a 64-year-old female with a periadrenal paraganglioma. The mass was diagnosed during abdominal ultrasonography performed to investigate right flank pain...
  47. Jimenez C, Rohren E, Habra M, Rich T, Jiménez P, Ayala Ramirez M, et al. Current and future treatments for malignant pheochromocytoma and sympathetic paraganglioma. Curr Oncol Rep. 2013;15:356-71 pubmed publisher
  48. Wald O, Shapira O, Murar A, Izhar U. Paraganglioma of the mediastinum: challenges in diagnosis and surgical management. J Cardiothorac Surg. 2010;5:19 pubmed publisher
    ..Complete resection of the tumor was achieved using cardiopulmonary bypass. The patient recovered uneventfully and in a ten-month follow up there is no evidence of recurrence...
  49. Saito J, Hirata N, Furuzono M, Nakaji S, Inase M, Nagano H, et al. [A case of duodenal gangliocytic paraganglioma with lymph node metastasis]. Nihon Shokakibyo Gakkai Zasshi. 2010;107:639-48 pubmed
    ..The pathological findings of the enucleated tumor specimens revealed gangliocytic paraganglioma with metastasis to the # 17b lymph node...
  50. Crona J, Delgado Verdugo A, Maharjan R, Stalberg P, Granberg D, Hellman P, et al. Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing. J Clin Endocrinol Metab. 2013;98:E1266-71 pubmed publisher
    Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with either somatic or germline mutations in established PCC and PGL susceptibility loci...
  51. Fottner C, Helisch A, Anlauf M, Rossmann H, Musholt T, Kreft A, et al. 6-18F-fluoro-L-dihydroxyphenylalanine positron emission tomography is superior to 123I-metaiodobenzyl-guanidine scintigraphy in the detection of extraadrenal and hereditary pheochromocytomas and paragangliomas: correlation with vesicular monoamine tr. J Clin Endocrinol Metab. 2010;95:2800-10 pubmed publisher
    ..Pheochromocytomas (PHEOs) and paragangliomas (PGLs) may be better detected by (18)F-fluorodihydroxyphenylalanine-positron emission tomography (FDOPA-PET) than (123)I-metaiodobenzyl-guanidine (123-I-MIBG) scintigraphy...
  52. 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;23:739-52 pubmed publisher
    ..Methylome analysis of a large paraganglioma cohort identified three stable clusters, associated with distinct clinical features and mutational status...
  53. Fishbein L, Nathanson K. Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer Genet. 2012;205:1-11 pubmed publisher
    ..This review summarizes the known germline and somatic mutations leading to the development of PCC and PGL, as well as biochemical profiling for PCCs/PGLs and screening of mutation carriers...
  54. Okubo Y, Yokose T, Tuchiya M, Mituda A, Wakayama M, Hasegawa C, et al. Duodenal gangliocytic paraganglioma showing lymph node metastasis: a rare case report. Diagn Pathol. 2010;5:27 pubmed publisher
    We describe a case of duodenal gangliocytic paraganglioma showing lymph node metastasis. A 61-year-old Japanese man underwent pylorus preserving pancreaticoduodenectomy to remove a tumor at the papilla of Vater...
  55. Fukuoka M, Taki J, Mochizuki T, Kinuya S. Comparison of diagnostic value of I-123 MIBG and high-dose I-131 MIBG scintigraphy including incremental value of SPECT/CT over planar image in patients with malignant pheochromocytoma/paraganglioma and neuroblastoma. Clin Nucl Med. 2011;36:1-7 pubmed publisher
    ..high-dose I-131 MIBG and to evaluate incremental benefit of SPECT/CT over planar image for the detection and localization of the lesions in patients with I-131 MIBG therapy for malignant pheochromocytoma/paraganglioma and neuroblastoma.
  56. Treglia G, Cocciolillo F, de Waure C, Di Nardo F, Gualano M, Castaldi P, et al. Diagnostic performance of 18F-dihydroxyphenylalanine positron emission tomography in patients with paraganglioma: a meta-analysis. Eur J Nucl Med Mol Imaging. 2012;39:1144-53 pubmed publisher
    ..aim of this study was to systematically review and conduct a meta-analysis of published data about the diagnostic performance of (18)F-dihydroxyphenylalanine (DOPA) positron emission tomography (PET) in patients with paraganglioma (PG).
  57. Malinoc A, Sullivan M, Wiech T, Schmid K, Jilg C, Straeter J, et al. Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3. Endocr Relat Cancer. 2012;19:283-90 pubmed publisher
    ..especially von Hippel-Lindau disease (VHL) associated with germline VHL mutations, and pheochromocytoma and paraganglioma syndrome (PGL) associated with mutations in one of the four genes (SDHA-D) encoding succinate dehydrogenase...
  58. Neumann H, Sullivan M, Winter A, Malinoc A, Hoffmann M, Boedeker C, et al. Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. J Clin Endocrinol Metab. 2011;96:E1279-82 pubmed publisher
    ..Patients with TMEM127 mutations have been thus far exclusively identified with adrenal tumors...
  59. Andersen K, Altaf R, Krarup Hansen A, Kromann Andersen B, Horn T, Christensen N, et al. Malignant pheochromocytomas and paragangliomas - the importance of a multidisciplinary approach. Cancer Treat Rev. 2011;37:111-9 pubmed publisher
    ..Novel targeted therapies, which mainly through a cytostatic effect interfere with specific targeted molecules needed for carcinogenesis and tumour growth show encouraging results...
  60. Fliedner S, Lehnert H, Pacak K. Metastatic paraganglioma. Semin Oncol. 2010;37:627-37 pubmed publisher
    ..Here we review recent advances involving findings about the genetic background, the molecular pathogenesis, new diagnostic indicators, pathologic markers, and emerging treatment options for metastatic PGL...
  61. Baysal B. Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors. Biochim Biophys Acta. 2013;1827:573-7 pubmed publisher
    ..genes of mitochondrial complex II (succinate dehydrogenase; SDH) and the regulatory gene SDHAF2 predispose to paraganglioma tumors which show constitutive activation of hypoxia inducible pathways...
  62. Schiavi F, Milne R, Anda E, Blay P, Castellano M, Opocher G, et al. Are we overestimating the penetrance of mutations in SDHB?. Hum Mutat. 2010;31:761-2 pubmed publisher
  63. Bayley J, Devilee P. Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?. Curr Opin Genet Dev. 2010;20:324-9 pubmed publisher
    ..Recently a novel mitochondrial protein, SDHAF2 (SDH5), was also shown to be a paraganglioma-related tumour suppressor gene...
  64. Jafri M, Maher E. The genetics of phaeochromocytoma: using clinical features to guide genetic testing. Eur J Endocrinol. 2012;166:151-8 pubmed publisher
    ..phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and extra-adrenal functional paraganglioma (eFPGL))...
  65. Gong J, Wang X, Chen X, Chen N, Huang R, Lu C, et al. Adrenal and extra-adrenal nonfunctioning composite pheochromocytoma/paraganglioma with immunohistochemical ectopic hormone expression: comparison of two cases. Urol Int. 2010;85:368-72 pubmed publisher
    Adrenal composite pheochromocytoma is rare, most of which is functional, and extra-adrenal composite paraganglioma is extremely rare...
  66. Hensen E, Bayley J. Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma. Fam Cancer. 2011;10:355-63 pubmed publisher
    The last 10 years have seen enormous progress in the field of paraganglioma and pheochromocytoma genetics...
  67. Rekhi B, Verma A, Gulia A, Kumar R, Dhanda S, Jambhekar N. Metastatic paraganglioma presenting as a primary shoulder mass. Skeletal Radiol. 2013;42:1617-22 pubmed publisher
    ..Diagnosis of a malignant paraganglioma was finally offered. The patient's post-operative blood pressure is controlled...
  68. Sangster G, Do D, Previgliano C, Li B, Lafrance D, Heldmann M. Primary retroperitoneal paraganglioma simulating a pancreatic mass: a case report and review of the literature. HPB Surg. 2010;2010:645728 pubmed publisher
    ..This case report describes a patient who initially underwent work up for a suspected pancreatic head mass which was discovered to be a retroperitoneal paraganglioma by frozen section.
  69. Wadt K, Choi J, Chung J, Kiilgaard J, Heegaard S, Drzewiecki K, et al. A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. Pigment Cell Melanoma Res. 2012;25:815-8 pubmed publisher
    ..Whole-exome sequencing identified an apparent missense mutation of BAP1 in UMM, CMM, as well as paraganglioma, breast cancer, and suspected mesothelioma cases in the family...