Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report

Mamedova, Elizaveta; Vasilyev, Evgeny; Petrov, V. M.; Buryakina, Svetlana; Tiulpakov, Anatoly; Belaya, Zhanna

doi:10.3389/fendo.2021.683492

Cited by 10 publications

(8 citation statements)

References 15 publications

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“…Among 499 studies, 213 articles reported variants related to PPGLs and 16 papers reported MAX variants. We summarized the characteristics of the cases with PPGLs in MAX variants [ 5 , 15 , 16 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 ] ( Supplementary Table S1 ). Combining data from the 16 reports in MAX variants revealed that 42/71 cases (59.2%) had bilateral PCCs, 9/59 cases (8.5%) had PGLs, and 31/70 cases (44.3%) had an apparent family history of PPGLs.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Pheochromocytoma with Germline MAX Variant without Family History

Hata

Asano

Tominaga

et al. 2022

Clinics and Practice

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Recently, the genetic background of pheochromocytomas/paragangliomas (PPGLs) has been rapidly revealed. These tumors have been referred to as the “ten percent tumor”; however, the frequency of genetic variants of PPGLs has turned out to be more common than expected. PPGLs are potentially hereditary tumors and appear clinically sporadic. Here, we report a case of bilateral pheochromocytoma (PCC) with a variant in the MYC-associated factor X (MAX) gene (c.295 + 1G > A). A male patient was diagnosed with adrenal pheochromocytoma (PCC) and underwent a left adrenalectomy at the age of 40. A new tumor in the right adrenal gland was detected at the age of 43. Urinary metanephrine and normetanephrine concentrations gradually increased. The size of the right adrenal PCC continued to increase one year after detection. Genetic testing of the peripheral blood revealed the presence of a pathogenic variant in MAX. The natural history of adrenal PCCs with the MAX variant has not yet been clarified, because the number of reported cases is not sufficient. Thus, clinicians should consider a MAX variant when they find bilateral or multiple PCCs.

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Section: Discussionmentioning

confidence: 99%

Bilateral Pheochromocytoma with Germline MAX Variant without Family History

Hata

Asano

Tominaga

et al. 2022

Clinics and Practice

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“…Mutations in MAX are associated with a distinctive biochemical profile with elevated levels of normetanephrins and normal or slightly increased levels of metanephrins (Burnichon et al 2012b). In addition, pituitary NETs, pancreatic NET, erythrocytosis, and renal oncocytomas have been reported in the setting of germline MAX alterations (Burnichon et al 2012b, Korpershoek et al 2016, Petignot et al 2020, Mamedova et al 2021.…”

Section: Pcc Related To Max Gene Mutationsmentioning

confidence: 99%

Genetic bases of pheochromocytoma and paraganglioma

Cascón

Calsina

Monteagudo

et al. 2023

Journal of Molecular Endocrinology

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The genetics of pheochromocytoma and paraganglioma (PPGL) has become increasingly complex over the last two decades. The list of genes involved in the development of these tumors has grown steadily, and there are currently more than 20 driver genes implicated in either the hereditary or the sporadic nature of the disease. Although genetic diagnosis is achieved in about 75-80% of patients, the genetic aetiology remains unexplained in a significant percentage of cases. Patients lacking a genetic diagnosis include not only those with apparently sporadic PPGL, but also patients with a family history of the disease or with multiple tumors, that meet the criteria to be considered as candidates for carrying germline mutations in yet undiscovered genes. Mutations in known PPGL genes deregulate three main signaling pathways (hypoxia, kinase signaling and wnt-signaling pathways), which could be the starting point for the development of a personalised treatment for PPGL patients. Furthermore, the integration of results from several genomic high-throughput platforms enables the discovery of regulatory mechanisms that cannot be identified by analyzing each piece of information separately. These strategies are powerful tools for elucidating optimal therapeutic options based on molecular biomarkers in PPGL, and represent an important step towards the achievement of precision medicine for patients with metastatic PPGL.

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“…Это позволило авторам выдвинуть предположение, что ген MAX может быть новым геном, ответственным за развитие МЭН, и предложили термин синдрома МЭН 5 типа [ 47 ]. Нами также был описан случай сочетания АГ (пролакто-соматотропиномы) и двусторонних асинхронных ФХЦ у пациентки с анамнезом семейной акромегалии [ 48 ]. Отмечаются некоторые клинические особенности пациентов с синдромом «3РАs» и мутациями в гене MAX.…”

Section: мутации в гене Max синдром множественных эндокринных неоплаз...unclassified

Rare forms of hereditary endocrine neoplasia: co-existence of pituitary adenoma and pheochromocytoma/paraganglioma

Mamedova

Lisina

Belaya

2023

Probl Endokrinol (Mosk)

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Functioning pituitary adenomas and pheochromocytomas/paragangliomas are rare in the general population. Pituitary adenomas occur in the familial setting in approximately 5% of cases, whereas pheochromocytomas/paragangliomas can be hereditary in 30–40% of cases. Hereditary syndromes associated with pituitary adenomas include multiple endocrine neoplasia types 1 and 4, familial isolated pituitary adenomas, and Carney complex. Hereditary syndromes associated with pheochromocytomas/paragangliomas and genes, mutations in which predispose to their development, are more numerous. The first clinical descriptions of the co-occurrence of pituitary adenoma and pheochromocytoma/paraganglioma in one patient date back to the mid 20th century, however delineating such a co-occurrence into a particular syndrome («3PAs» (pituitary adenoma, pheochromocytoma, paraganglioma)) was suggested only in 2015. To date, approximately 100 cases of such a co-occurrence have been described in the literature. Mutations in genes encoding subunits of succinate dehydrogenase complex II (SDHx) are revealed in the majority of cases, much less common are mutations in MAX, MEN1 and some other genes. This review summarizes the current information on the «3PAs» syndrome.

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Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report

Cited by 10 publications

References 15 publications

Bilateral Pheochromocytoma with Germline MAX Variant without Family History

Bilateral Pheochromocytoma with Germline MAX Variant without Family History

Genetic bases of pheochromocytoma and paraganglioma

Rare forms of hereditary endocrine neoplasia: co-existence of pituitary adenoma and pheochromocytoma/paraganglioma

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