Acromegaly and type 1 neurofibromatosis. Is association of both conditions due to chance?

Garrido, Antoni Checa; Picó, Carlos del Pozo

doi:10.1016/j.endoen.2012.01.014

Cited by 5 publications

(11 citation statements)

References 11 publications

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“…Pituitary adenomas are rarely reported in NF1 patients, although these genetic mutations are known to predispose patients to this condition ( Table 6 ) ( 167 – 170 ). Excess growth hormone (GH) has been observed, notably in patients with central precocious puberty, but it seems to be associated with optic pathway tumors (OPT) rather than pituitary somatotroph adenomas ( 171 , 172 ).…”

Section: Pituitary Adenomasmentioning

confidence: 99%

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

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Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and to hypoxia sensing for VHL. Phakomatoses share some phenotypic traits such as neurological, ophthalmological and cutaneous features. Patients with these diseases are also predisposed to developing multiple endocrine tissue tumors, e.g., pheochromocytomas/paragangliomas are frequent in VHL and NF1. All forms of phakomatoses except CS may be associated with digestive neuroendocrine tumors. More rarely, thyroid cancer and pituitary or parathyroid adenomas have been reported. These susceptibilities are noteworthy, because their occurrence rate, prognosis and management differ slightly from the sporadic forms. The aim of this review is to summarize current knowledge on endocrine glands tumors associated with VHL, NF1, TSC, and CS, especially neuroendocrine tumors and pheochromocytomas/paragangliomas. We particularly detail recent advances concerning prognosis and management, especially parenchyma-sparing surgery and medical targeted therapies such as mTOR, MEK and HIF-2 α inhibitors, which have shown truly encouraging results.

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Section: Pituitary Adenomasmentioning

confidence: 99%

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

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“…A very low incidence of endocrine disorders other than pheochromocytoma has been reported in association with NF1. A review of previous case reports on NF1 patients described limited numbers of patients who developed the following concurrent endocrine disorders: primary hyperparathyroidism ( 25 , 26 ), acromegaly and hypersomatotropism in children ( 12 , 13 , 27 , 28 ), and somatostatin-producing carcinoid tumors ( 29 ). The pathogenetic mechanism by which such endocrine disorders develop in association with NF1 is unknown.…”

Section: Discussionmentioning

confidence: 99%

“…In this regard, the increased expressions of B-Raf and Akt, as well as the increased activity of B-Raf- and Akt-activated components were found in pituitary adenomas ( 35 ). Based on these findings, Checa Garrido et al recognized a good chance of developing pituitary adenomas due to genetic alterations of the NF1 gene ( 12 ).…”

Section: Discussionmentioning

confidence: 99%

“…In some pediatric patients with NF1, acromegaly developed concurrently due to the loss of somatostatinergic inhibition caused by the OPG-induced activation of the mitogenactivated protein kinase (MAPK) signaling pathway when somatotroph adenoma of the adenohypophysis was absent (13,28,33). In contrast, not OPGs but somatotroph adenomas of the adenohypophysis developed in some adult patients with NF 1 who had acromegaly concurrently (12,13). In sporadic pituitary adenomas, changes in the cell signaling pathways -PI3K/Akt/mTOR and Raf/ MEK/ERK -are implicated in the pathogenesis of NF1 (34).…”

Section: Discussionmentioning

confidence: 99%

“…Rare cases of single or multiple concurrent endocrine disorders [e.g., pituitary adenoma ( 11 ), acromegaly ( 12 ), pituitary somatotroph adenoma in combination with follicular thyroid carcinoma and primary hyperparathyroidism ( 13 ), as well as pheochromocytoma and paraganglioma ( 14 )] have been reported. However, while the genetic alterations of the NF1 gene have been identified, the detailed physiopathologic mechanisms underlying endocrinopathy concurrence in NF1 remain to be elucidated ( 1 , 15 ).…”

Section: Introductionmentioning

confidence: 99%

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Neurofibromatosis Type 1 with Concurrent Multiple Endocrine Disorders: Adenomatous Goiter, Primary Hyperparathyroidism, and Acromegaly

2021

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We encountered a 70-year-old Japanese woman with neurofibromatosis type 1 (NF1) who had a history of pheochromocytoma and concurrently developed adenomatous goiter, primary hyperparathyroidism, and acromegaly. The patient had a somatotroph adenoma of the adenohypophysis that predisposed her to multinodular goiter. Three parathyroid tumors were detected by cervical ultrasonography and cervicothoracic computed tomography. Genetic analyses did not reveal genetic alterations (e.g. loss-of-function mutation) in the causative genes of endocrine tumors, including MEN1 , RET , VHL , CDKN1B , and CDKN2C . The NF1 gene could not be analyzed genetically due to the patient's refusal. The pathophysiologic mechanisms of endocrinopathy concurrence in NF1 remain to be elucidated.

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The genetic background of acromegaly

Gadelha

Korbonits

2017

Pituitary

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Acromegaly is caused by a somatotropinoma in the vast majority of the cases. These are monoclonal tumors that can occur sporadically or rarely in a familial setting. In the last few years, novel familial syndromes have been described and recent studies explored the landscape of somatic mutations in sporadic somatotropinomas. This short review concentrates on the current knowledge of the genetic basis of both familial and sporadic acromegaly.

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Acromegaly and type 1 neurofibromatosis. Is association of both conditions due to chance?

Cited by 5 publications

References 11 publications

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Neurofibromatosis Type 1 with Concurrent Multiple Endocrine Disorders: Adenomatous Goiter, Primary Hyperparathyroidism, and Acromegaly

The genetic background of acromegaly

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