An unusual case of mediastinal paraganglioma and pituitary adenoma

Gorospe, Luis; Cabañero-Sánchez, Alberto; Muñoz-Molina, Gemma María; Pacios-Blanco, Rubén Eduardo; Ureña-Vacas, Almudena; García-Santana, Ernesto

doi:10.1016/j.surg.2017.03.003

Cited by 6 publications

(1 citation statement)

References 2 publications

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“…В 2001 г. было доказано, что герминальные гетерозиготные мутации в гене SDHB являются причиной наследственных ФХЦ и ПГ [22], при этом чаще всего ПГ множественные и склонны к малигнизации [23]. В литературе описано 12 пациентов с сочетанием «3РАs» и мутацией в гене SDHB [14,15,[24][25][26][27]. Среди АГ преобладали пролактиномы (как макро-, так и микроаденомы), также встречались соматотропиномы и гормонально-неактивные аденомы.…”

Section: Sdhbunclassified

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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Section: Sdhbunclassified

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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The 3PAs syndrome and succinate dehydrogenase deficiency in pituitary tumors

Xekouki

Daraki

Betsi

et al. 2021

Gigantism and Acromegaly

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The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors

et al. 2018

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Supplementary material for this article is available online at http://www.thieme-connect.de/products. ABStr AC tPituitary adenomas (PA) and pheochromocytomas/paragangliomas (PHEO/PGL) are rare tumors. Although they may co-exist by coincidence, there is mounting evidence that genes predisposing in PHEO/PGL development, may play a role in pituitary tumorigenesis. In 2012, we described a GH-secreting PA caused by an SDHD mutation in a patient with familial PGLs and found loss of heterozygosity at the SDHD locus in the pituitary tumor, along with increased hypoxia-inducible factor 1α (HIF-1α) levels. Additional patients with PAs and SDHx defects have since been reported. Overall, prevalence of SDHx mutations in PA is very rare (0.3-1.8 % in unselected cases) but we and others have identified several cases of PAs with PHEOs/ PGLs, like our original report, a condition which we termed the 3 P association (3PAs). Interestingly, when 3PAs is found in the sporadic setting, no SDHx defects were identified, whereas in familial PGLs, SDHx mutations were identified in 62.5-75 % of the reported cases. Hence, pituitary surveillance is recommended among patients with SDHx defects. It is possible that the SDHx germline mutation-negative 3PAs cases may be due to another gene, epigenetic changes, mutations in modifier genes, mosaicism, somatic mutations, pituitary hyperplasia due to ectopic hypothalamic hormone secretion or a coincidence. PA in 3PAs are mainly macroadenomas, more aggressive, more resistant to somatostatin analogues, and often require surgery. Using the Sdhb + / − mouse model, we showed that hyperplasia may be the first abnormality in tumorigenesis as initial response to pseudohypoxia. We also propose surveillance and follow-up approach of patients presenting with this association.

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An unusual case of mediastinal paraganglioma and pituitary adenoma

Cited by 6 publications

References 2 publications

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

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

The 3PAs syndrome and succinate dehydrogenase deficiency in pituitary tumors

The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors

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