Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation

Romanet, Pauline; Guérin, Carole; Pedini, Pascal; Essamet, Wassim; Castinetti, Frédéric; Sébag, F.; Roché, Philippe; Cascón, Alberto; Tischler, Arthur S.; Pacák, Karel; Barlier, Anne; Taïeb, David

doi:10.1007/s12022-016-9460-5

Cited by 26 publications

(14 citation statements)

References 14 publications

(19 reference statements)

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“…However, Romanet et al found that there still existed a wild-type allele in the MAX-mutated PCC. And they thought that for MAX-mutated tumors, in addition to chromosomal loss and uniparental disomy, other potential mechanisms can account for the loss of MAX protein expression (8). In the present case, we found that the parents of the proband did not have MAX variants, which suggested that the germline MAX variants of the proband were de novo.…”

Section: Discussionsupporting

confidence: 50%

A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review

Chang

et al. 2020

Front. Endocrinol.

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Background: MYC associated factor X (MAX) is a tumor suppressor gene and has been identified as one of the pathogenic genes of hereditary pheochromocytoma (PCC). To date, there have been no reports of ganglioneuroma (GN) with MAX variants. Case Presentation: The proband was a 45-years-old Chinese female with paroxysmal hypertension and palpitations who had undergone adrenalectomy for PCC 14 years ago. Her plasma free normetanephrine and 24-h urinary norepinephrine excretion were significantly increased, and abdominal computed tomography (CT) revealed an irregular mass in the left adrenal region, suggesting a recurrence of PCC. The mass was surgically removed and pathologically diagnosed as PCC with lymph node metastasis. The proband's son suffered from paroxysmal hypertension and palpitations. His plasma free metanephrine levels were normal. CT revealed a mass in the right adrenal. The tumor was surgically removed, and the pathological diagnosis was GN. Genetic testing of peripheral blood DNA revealed that the proband and her son had germline pathogenic MAX variant c.C97T, p.Arg33Ter, while proband's parents did not have MAX variants. Tumor DNA sequencing showed the same MAX variant (c.C97T, p.Arg33Ter) in PCC of the proband and GN of her son, both with retention of heterozygosity. Immunohistochemistry demonstrated loss of MAX protein expression in most tumor cells in PCC of the proband and some Schwannian cells in GN of the proband's son. Conclusion: We report a family with a new clinical phenotype of germline pathogenic variants in MAX who developed both PCC and GN. Germline pathogenic variants in MAX may contribute to the development of GN. Our findings suggest that it is not just paternally inherited MAX variants that can cause tumors.

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Section: Discussionsupporting

confidence: 50%

A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review

Chang

et al. 2020

Front. Endocrinol.

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“…Up to now, roughly 60 patients with MAX mutations have been reported in the literature. For a detailed list of cases of MAX variants reported in the literature, please refer to Supplementary Table 2 (Comino-Mendez et al 2011, Burnichon et al 2012, Peczkowska et al 2013, Welander et al 2014, Bausch et al 2017, Romanet et al 2017.…”

Section: Myc Associated Factor X (Max)mentioning

confidence: 99%

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms

Guérin¹,

Romanet²,

Taïeb³

et al. 2018

Endocrine-Related Cancer

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Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent disease: the penetrance and age at diagnosis depend on the mutation of Given the prevalence of bilateral PHEO (50% by age 50), adrenal sparing surgery, aimed at sparing a part of the adrenal cortex to avoid adrenal insufficiency, should be systematically considered in patients with bilateral PHEO. Non-MEN2 familial forms of PHEO now include more than 20 genes: however, only small phenotypic series have been reported, suggesting that phenotypic features of isolated hereditary PHEO must be better explored, and follow-up series are needed to better understand the outcome of patients carrying mutations of these genes. The first part of this review will mainly focus on these points. In the second part, a focus will be given on MEN2 and non-MEN2 familial forms of hyperparathyroidism (HPTH). Again, the management of MEN2 HPTH should be aimed at curing the disease while preserving an optimal quality of life by a tailored parathyroidectomy. The phenotypes and outcome of MEN1-, MEN4- and HRPT2-related HPTH are briefly described, with a focus on the most recent literature data and is compared with familial hypocalciuric hypercalcemia.

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“…Moreover, a 25-years-old patient with multiple PCCs associated with adrenal medullary hyperplasia and with a nonsense germline MAX mutation was described (56).…”

Section: Discussionmentioning

confidence: 99%

A Novel MAX Gene Mutation Variant in a Patient With Multiple and “Composite” Neuroendocrine–Neuroblastic Tumors

et al. 2020

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Pheochromocytomas (PCCs), paragangliomas (PGLs), ganglioneuroblastomas (GNBs), and ganglioneuromas (GNs) are neuroendocrine neoplasms (NENs) that were thought to share a common embryologic origin from neural crest cells. However, they rarely occur concurrently and recurrently. We describe the case of a 40-years-old woman with "composite PCC-GN" and multiple NENs and neuroblastic tumors. Case presentation: The patient was first referred to our department at the age of 15 years for paroxysmal hypertension, headache, sweating, and watery diarrhea. Her personal history included the diagnosis of a pelvic GNB with lumbar-aortic lymph node metastases at 11 months. Her family history was positive for cerebral glioblastoma multiforme (father). An abdominal ultrasound showed a right adrenal mass that histologically was a "composite adrenal PCC-GN." The symptoms disappeared after surgery. At the age of 20 years, the symptoms returned: computed tomography (CT) and 131I-metaiodobenzylguanidine (MIBG) scintigraphy showed an inter-aortocaval mass, found histologically to be an inter-aortocaval PGL. Her symptoms reappeared again at 28 years: CT and magnetic resonance imaging revealed four left adrenal gland nodules, found histologically to be multifocal PCCs with some atypia. Genetic screening for VHL,

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Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation

Cited by 26 publications

References 14 publications

A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review

A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms

A Novel MAX Gene Mutation Variant in a Patient With Multiple and “Composite” Neuroendocrine–Neuroblastic Tumors

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