Literature DB >> 26523625

CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.

Hana Turkova, Tamara Prodanov, Marek Maly, Victoria Martucci, Karen Adams, Jiri Widimsky, Clara C Chen, Alexander Ling, Electron Kebebew, Constantine A Stratakis, Tito Fojo, Karel Pacak.   

Abstract

OBJECTIVE: Overall about 10 to 20% of pheochromocytomas/paragangliomas (PHEOs/PGLs) are metastatic, with higher metastatic potential observed in succinate dehydrogenase subunit B/fumarate hydratase (SDHB/FH)-related tumors. Due to the improved availability of biochemical and genetic testing and the frequent use of anatomical/functional imaging, there is currently a higher detection rate of metastatic PHEO/PGL.
METHODS: A retrospective analysis of 132 patients (27 children, 105 adults) with metastatic PHEO/PGL diagnosed and treated from 2000 to 2014 was conducted.
RESULTS: Seventy-seven (58%) males and 55 (42%) females were included; 39 (30%) have died, with no sex preference. Seventy-three (55%) patients had SDHB mutations; 59 (45%) patients had apparently sporadic tumors (AST). SDHB patients had an average age at primary tumor diagnosis of 31 ± 16 years compared to 40 ± 15 years in AST patients (P<.001). The average metastatic interval (MI) decreased with increasing age in both SDHB and AST patients (P = .013 for both). Only 16% of all primary tumors were smaller than 4.5 cm. Eleven percent of patients had biochemically silent disease, more with SDHB. Of SDHB patients, 23% had metastatic tumors at first diagnosis, compared to 15% of AST patients. Five- and 10-year survival rates were significantly better for metastatic AST than SDHB patients (P = .01). Overall survival was significantly different between children and adults (P = .037); this was mostly attributed to the SDHB patients, in whom children had statistically significantly longer survival than adults (P = .006). The deceased patients all died due to the PHEO/PGL and mainly had noradrenergic phenotypes.
CONCLUSION: In children, metastatic PHEOs/PGLs are mainly due to SDHB mutations; in adults they are equally distributed between in SDHB mutations and AST, with better 5- and 10-year survival rates for ASTs. In SDHB patients, children survive longer than adults. Primary metastatic tumors, most presenting as noradrenergic PGLs, are larger than 4.5 cm in >80% of patients. The frequency of metastatic tumors from primary AST increases with age, including a decreased MI compared to SDHB tumors. These results support several recommendations that are summarized in the Discussion.

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Year:  2015        PMID: 26523625      PMCID: PMC7473461          DOI: 10.4158/EP15725.OR

Source DB:  PubMed          Journal:  Endocr Pract        ISSN: 1530-891X            Impact factor:   3.443


  53 in total

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2.  Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma.

Authors:  Graeme Eisenhofer; Jacques W M Lenders; Henri Timmers; Massimo Mannelli; Stefan K Grebe; Lorenz C Hofbauer; Stefan R Bornstein; Oliver Tiebel; Karen Adams; Gennady Bratslavsky; W Marston Linehan; Karel Pacak
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3.  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.

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4.  Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Authors:  Iñaki Comino-Méndez; Francisco J Gracia-Aznárez; Francesca Schiavi; Iñigo Landa; Luis J Leandro-García; Rocío Letón; Emiliano Honrado; Rocío Ramos-Medina; Daniela Caronia; Guillermo Pita; Alvaro Gómez-Graña; Aguirre A de Cubas; Lucía Inglada-Pérez; Agnieszka Maliszewska; Elisa Taschin; Sara Bobisse; Giuseppe Pica; Paola Loli; Rafael Hernández-Lavado; José A Díaz; Mercedes Gómez-Morales; Anna González-Neira; Giovanna Roncador; Cristina Rodríguez-Antona; Javier Benítez; Massimo Mannelli; Giuseppe Opocher; Mercedes Robledo; Alberto Cascón
Journal:  Nat Genet       Date:  2011-06-19       Impact factor: 38.330

5.  Clinical spectrum and outcome of functional extraadrenal paraganglioma.

Authors:  D S O'Riordain; W F Young; C S Grant; J A Carney; J A van Heerden
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6.  Metastatic pheochromocytoma: does the size and age matter?

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Journal:  Eur J Clin Invest       Date:  2011-04-01       Impact factor: 4.686

7.  Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD.

Authors:  Dragana Milosevic; Patrick Lundquist; Kendall Cradic; Noemi Vidal-Folch; ThanhTruc Huynh; Karel Pacak; Stefan K G Grebe
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8.  Malignant giant pheochromocytoma: a case report and review of the literature.

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9.  Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.

Authors:  Laurence Amar; Eric Baudin; Nelly Burnichon; Séverine Peyrard; Stéphane Silvera; Jérôme Bertherat; Xavier Bertagna; Martin Schlumberger; Xavier Jeunemaitre; Anne-Paule Gimenez-Roqueplo; Pierre-François Plouin
Journal:  J Clin Endocrinol Metab       Date:  2007-07-24       Impact factor: 5.958

10.  Genotype and tumor locus determine expression profile of pseudohypoxic pheochromocytomas and paragangliomas.

Authors:  Uma Shankavaram; Stephanie M J Fliedner; Abdel G Elkahloun; Jenifer J Barb; Peter J Munson; Thanh T Huynh; Joey C Matro; Hana Turkova; W Marston Linehan; Henri J Timmers; Arthur S Tischler; James F Powers; Ronald de Krijger; Bora E Baysal; Martina Takacova; Silvia Pastorekova; David Gius; Hendrik Lehnert; Kevin Camphausen; Karel Pacak
Journal:  Neoplasia       Date:  2013-04       Impact factor: 5.715

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  43 in total

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Journal:  Endocr Relat Cancer       Date:  2019-05       Impact factor: 5.678

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Review 5.  Outcomes of patients with metastatic phaeochromocytoma and paraganglioma: A systematic review and meta-analysis.

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6.  Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

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Journal:  Langenbecks Arch Surg       Date:  2017-02-22       Impact factor: 3.445

7.  Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.

Authors:  Ivana Jochmanova; April Melody T Abcede; Ruby Jane S Guerrero; Chandy Lou P Malong; Robert Wesley; Thanh Huynh; Melissa K Gonzales; Katherine I Wolf; Abhishek Jha; Marianne Knue; Tamara Prodanov; Naris Nilubol; Leilani B Mercado-Asis; Constantine A Stratakis; Karel Pacak
Journal:  J Cancer Res Clin Oncol       Date:  2020-02-15       Impact factor: 4.553

8.  HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: Metastatic pheochromocytomas and paragangliomas: proceedings of the MEN2019 workshop.

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Journal:  Endocr Relat Cancer       Date:  2020-08       Impact factor: 5.678

9.  PET/CT comparing (68)Ga-DOTATATE and other radiopharmaceuticals and in comparison with CT/MRI for the localization of sporadic metastatic pheochromocytoma and paraganglioma.

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10.  Therapeutic Targeting of SDHB-Mutated Pheochromocytoma/Paraganglioma with Pharmacologic Ascorbic Acid.

Authors:  Yang Liu; Ying Pang; Chunzhang Yang; Karel Pacak; Boqun Zhu; Ondrej Uher; Veronika Caisova; Thanh-Truc Huynh; David Taieb; Katerina Hadrava Vanova; Hans Kumar Ghayee; Jiri Neuzil; Mark Levine
Journal:  Clin Cancer Res       Date:  2020-03-09       Impact factor: 12.531

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