“…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.…”
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.
“…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.…”
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.
“…97, 111–121 Out of the cases with a known genetic cause, twenty one are due to germline loss-of-function mutations in genes that are known to be causative of pheo/PGL: SDHB, SDHD, SDHC and SDHA genes ( SDHx genes), in nine, six, two, two and one cases, respectively, while an SDHAF2 and a MAX mutation were reported in one case each. 111–115, 117, 120, 122–126 A few other cases presenting with this phenotype represent variants of classic syndromes of multiple endocrine neoplasia: three cases with RET mutations (MEN2A), two cases with MEN1 mutations (MEN1) and one with a VHL mutation (Von Hippel-Lindau disease). 93, 95, 119, 127 Four cases of Cushing’s disease presenting with 3PAs phenotype have been reported in the literature, one of them carrying a RET mutation (see “Multiple endocrine neoplasia type 2”).…”
Section: Genetic Alterations In Cushing’s Diseasementioning
The knowledge on the molecular and genetic causes of Cushing's syndrome (CS) has greatly increased in the recent years. Somatic mutations leading to overactive 3',5'-cyclic adenosine monophosphate/protein kinase A and wingless-type MMTV integration site family/beta-catenin pathways are the main molecular mechanisms underlying adrenocortical tumorigenesis. Corticotropinomas are characterized by resistance to glucocorticoid negative feedback, impaired cell cycle control and overexpression of pathways sustaining ACTH secretion. Recognizing the genetic defects behind corticotroph and adrenocortical tumorigenesis proves crucial for tailoring the clinical management of CS patients and for designing strategies for genetic counseling and clinical screening to be applied in routine medical practice.
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