1. Introduction
2. Case Presentation
3. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
References
- Pacak, K.; Taïeb, D. Pheochromocytoma (PHEO) and Paraganglioma (PGL). Cancers 2019, 11, 1391. [Google Scholar] [CrossRef] [PubMed]
- Maher, E.R.; Eng, C. The pressure rises: Update on the genetics of phaeochromocytoma. Hum. Mol. Genet. 2002, 11, 2347–2354. [Google Scholar] [CrossRef] [PubMed]
- Mannelli, M.; Castellano, M.; Schiavi, F.; Filetti, S.; Giacchè, M.; Mori, L.; Pignataro, V.; Bernini, G.; Giachè, V.; Bacca, A.; et al. Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J. Clin. Endocrinol. Metab. 2009, 94, 1541–1547. [Google Scholar] [CrossRef]
- Cascón, A.; Pita, G.; Burnichon, N.; Landa, I.; López-Jiménez, E.; Monerto-Conde, C.; Leskelä, S.; Leandor-García, L.J.; Letón, R.; Rodriguez-Antona, C.; et al. Genetics of pheochromocytoma and paraganglioma in Spanish patients. J. Clin. Endocrinol. Metab. 2009, 94, 1701–1705. [Google Scholar] [CrossRef]
- Comino-Méndez, I.; Gracia-Aznárez, F.J.; Schiavi, F.; Landa, I.; Leandro-García, L.J.; Letón, R.; Honrado, E.; Ramos-Medina, R.; Caronia, D.; Pita, G.; et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat. Genet. 2011, 43, 663–667. [Google Scholar] [CrossRef] [PubMed]
- Amar, L.; Bertherat, J.; Baudin, E.; Ajzenberg, C.; Bressac-de Paillerets, B.; Chabre, O.; Chamontin, B.; Delemer, B.; Giraud, S.; Murat, A.; et al. Genetic testing in pheochromocytoma or functional paraganglioma. J. Clin. Oncol. 2005, 23, 8812–8818. [Google Scholar] [CrossRef] [PubMed]
- Burnichon, N.; Rohmer, V.; Amar, L.; Herman, P.; Leboulleux, S.; Darrouzet, V.; Niccoli, P.; Gaillard, D.; Chabrier, G.; Chabolle, F.; et al. PGL.NET network. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J. Clin. Endocrinol. Metab. 2009, 94, 2817–2827. [Google Scholar] [CrossRef] [PubMed]
- Jafri, M.; Whitworth, J.; Rattenberry, E.; Vialard, L.; Kilby, G.; Kumar, A.V.; Izatt, L.; Lalloo, F.; Brennan, P.; Cook, J.; 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. 2013, 78, 898–906. [Google Scholar] [CrossRef] [PubMed]
- Erlic, Z.; Rybicki, L.; Peczkowska, M.; Golcher, H.; Kann, P.H.; Brauckhoff, M.; Müssig, K.; Muresan, M.; Schäffler, A.; Reisch, N.; et al. European-American Pheochromocytoma Study Group. Clinical Predictors and Algorithm for the Genetic Diagnosis of Pheochromocytoma Patients. Clin. Cancer. Res. 2009, 15, 6378–6385. [Google Scholar] [CrossRef] [PubMed]
- Korpershoek, E.; Favier, J.; Gaal, J.; Burnichon, N.; van Gessel, B.; Oudijk, L.; Badoual, C.; Gadessaud, N.; Venisse, A.; Bayley, J.; et al. SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. J. Clin. Endocrinol. Metab. 2011, 96, E1472–E1476. [Google Scholar] [CrossRef] [PubMed]
- Lefebvre, S.; Borson-Chazot, F.; Boutry-Kryza, N.; Wion, N.; Schillo, F.; Peix, J.; Brunaud, L.; Finat, A.; Calender, A.; Giraud, S. Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. Horm. Metab. Res. 2012, 44, 334–338. [Google Scholar] [CrossRef] [PubMed]
- Lenders, J.W.; Duh, Q.Y.; Eisenhofer, G.; Gimenez-Roqueplo, A.P.; Grebe, S.K.; Murad, M.H.; Naruse, M.; Pacak, K.; Young, W.F. Endocrine Society. Pheochromocytoma and paraganglioma: An endocrine society clinical practice guideline. J. Clin. Endocrinol. Metab. 2014, 99, 1915–1942. [Google Scholar] [CrossRef]
- Brito, J.P.; Asi, N.; Bancos, I.; Gionfriddo, M.R.; Zeballos-Palacios, C.L.; Leppin, A.L.; Undavalli, C.; Wang, Z.; Domecq, J.P.; Prustsky, G.; et al. Testing for germline mutations in sporadic pheochromocytoma/paraganglioma: A systematic review. Clin. Endocrinol. 2015, 82, 338–345. [Google Scholar] [CrossRef] [PubMed]
- Welander, J.; Söderkvist, P.; Gimm, O. Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr. Relat. Cancer. 2011, 18, R253–R276. [Google Scholar] [CrossRef] [PubMed]
- Burnichon, N.; Cascón, A.; Schiavi, F.; Morales, N.P.; Comino-Méndez, I.; Abermil, N.; Inglada-Pérez, L.; de Cubas, A.A.; Amar, L.; Barontini, M.; et al. MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma. Clin. Cancer. Res. 2012, 18, 2828–2837. [Google Scholar] [CrossRef]
- Bausch, B.; Schiavi, F.; Ni, Y.; Welander, J.; Patocs, A.; Ngeow, J.; Wellner, U.; Malinoc, A.; Taschin, E.; Barbon, G.; et al. European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. JAMA. Oncol. 2017, 3, 1204–1212. [Google Scholar] [CrossRef]
- Grandori, C.; Cowley, S.M.; James, L.P.; Eisenman, R.N. The Myc/Max/Mad network and the transcriptional control of cell behavior. Annu. Rev. Cell. Dev. Biol. 2000, 16, 653–699. [Google Scholar] [CrossRef]
- Diolaiti, D.; McFerrin, L.; Carroll, P.A.; Eisenman, R.N. Functional interactions among members of the MAX and MLX transcriptional network during oncogenesis. Biochim. Biophys. Acta. 2015, 1849, 484–500. [Google Scholar] [CrossRef]
- Shibata, M.; Inaishi, T.; Miyajima, N.; Adachi, Y.; Takano, Y.; Nakanishi, K.; Takeuchi, D.; Noda, S.; Aita, Y.; Takekoshi, K.; et al. Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: A case report. Surg. Case. Rep. 2017, 3, 131–135. [Google Scholar] [CrossRef] [PubMed]
- Korpershoek, E.; Koffy, D.; Eussen, B.H.; Oudijk, L.; Papathomas, T.G.; van Nederveen, F.H.; Belt, E.J.; Franssen, G.J.; Restuccia, D.F.; Krol, N.M.; et al. Complex MAX Rearrangement in a Family with Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis. J. Clin. Endocrinol. Metab. 2016, 101, 453–460. [Google Scholar] [CrossRef]
- Roszko, K.L.; Blouch, E.; Blake, M.; Powers, J.F.; Tischler, A.S.; Hodin, R.; Sadow, P.; Lawson, E.A. Case Report of a Prolactinoma in a Patient with a Novel MAX Mutation and Bilateral Pheochromocytomas. J. Endocr. Soc. 2017, 1, 1401–1407. [Google Scholar] [CrossRef] [PubMed]
- Romanet, P.; Guerin, C.; Pedini, P.; Essamet, W.; Castinetti, F.; Sebag, F.; Roche, P.; Cascon, A.; Tischler, A.S.; Pacak, K.; et al. Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation. Endocr. Pathol. 2017, 28, 302–307. [Google Scholar] [CrossRef] [PubMed]
- Daly, A.F.; Castermans, E.; Oudijk, L.; Guitelman, M.A.; Beckers, P.; Potorac, I.; Neggers, S.J.; Sacre, N.; van der Lely, A.; Bours, V.; et al. Pheochromocytomas and pituitary adenomas in three patients with MAX exon deletions. Endocr. Relat. Cancer. 2018, 25, L37–L42. [Google Scholar] [CrossRef]
- Kobza, A.O.; Dizon, S.; Arnaout, A. Case Report of Bilateral Pheochromocytomas due to a Novel Max Mutation in a Patient Known to have a Pituitary Prolactinoma. AACE Clin. Case. Rep. 2018, 4, e453–e456. [Google Scholar] [CrossRef]
- Pozza, C.; Sesti, F.; Di Dato, C.; Sbardella, E.; Pofi, R.; Schiavi, F.; Bonifacio, V.; Isidori, A.M.; Faggiano, A.; Lenzi, A.; et al. A Novel MAX Gene Mutation Variant in a Patient with Multiple and "Composite" Neuroendocrine-Neuroblastic Tumors. Front. Endocrinol. 2020, 11, 234–242. [Google Scholar] [CrossRef] [PubMed]
- Chang, X.; Li, Z.; Ma, X.; Cui, Y.; Chen, S.; Tong, A. A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review. Front. Endocrinol. 2020, 11, 558–563. [Google Scholar] [CrossRef]
- Choi, H.; Kim, K.J.; Hong, N.; Shin, S.; Choi, J.R.; Kang, S.W.; Lee, S.T.; Rhee, Y. Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population. Endocrinol. Metab. 2020, 35, 858–872. [Google Scholar] [CrossRef]
- Duarte, D.B.; Ferreira, L.; Santos, A.P.; Costa, C.; Lima, J.; Santos, C.; Afonso, M.; Teixeira, M.R.; Carvalho, R.; Cardoso, M.H. Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family with Hereditary Pheochromocytoma Associated with a MAX Deleterious Variant. Front. Endocrinol. 2021, 12, 609263–609271. [Google Scholar] [CrossRef]
- Seabrook, A.J.; Harris, J.E.; Velosa, S.B.; Kim, E.; McInerney-Leo, A.M.; Dwight, T.; Hockings, J.I.; Hockings, N.G.; Kirk, J.; Leo, P.J.; et al. Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5? J. Clin. Endocrinol. Metab. 2021, 106, 1163–1182. [Google Scholar] [CrossRef] [PubMed]
- Mamedova, E.; Vasilyev, E.; Petrov, V.; Buryakina, S.; Tiulpakov, A.; Belaya, Z. Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient with a MAX Mutation: A Case Report. Front. Endocrinol. 2021, 12, 683492–683497. [Google Scholar] [CrossRef]
- Lam-Chung, C.E.; Rodríguez, L.L.; Vázquez, J.A.; Chávarri-Guerra, Y.; Arízaga-Ramírez, R.; Antonio, O.F.; González, J.D.; López-Hernández, M.A.; Weitzel, J.N.; Castillo, D.; et al. A Novel, Likely Pathogenic MAX Germline Variant in a Patient with Unilateral Pheochromocytoma. J. Endocr. Soc. 2021, 5, 1–6. [Google Scholar] [CrossRef]
- Petignot, S.; Daly, A.F.; Castermans, E.; Korpershoek, E.; Scagnol, I.; Beckers, P.; Dideberg, V.; Rohmer, V.; Bours, V.; Beckers, A. Pancreatic Neuroendocrine Neoplasm Associated with a Familial MAX Deletion. Horm. Metab. Res. 2020, 52, 784–787. [Google Scholar] [CrossRef]
- Muth, A.; Crona, J.; Gimm, O.; Elmgren, A.; Filipsson, K.; Askmalm, M.S.; Sandstedt, J.; Tengvar, M.; Tham, E. Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma. J. Intern. Med. 2019, 285, 187–204. [Google Scholar] [CrossRef]
- Richards, S.; Aziz, N.; Bale, S.; Bick, D.; Das, S.; Gastier-Foster, J.; Grody, W.W.; Hedge, M.; Lyon, E.; Spector, E.; et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015, 17, 405–424. [Google Scholar] [CrossRef]
- Jhawar, S.; Arakawa, Y.; Kumar, S.; Varghese, D.; Kim, Y.S.; Roper, N.; Elloumi, F.; Pommier, Y.; Pacak, K.; Del Rivero, J. New Insights on the genetics of pheochromocytoma and paraganglioma and its clinical implications. Cancers 2022, 14, 594–608. [Google Scholar] [CrossRef]




Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. |
© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).