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, Figueiredo BC, DeLacerda L, Sandrini F, Pianovsky MD, Sampaio G & Sandrini R 2000 Adrenocortical tumors in children. Brazilian Journal of Medical and Biological Research 33 1225 –1234. Schlumberger M , Brugieres L, Gicquel C
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caused by ATR-101 in the adrenal cortex of guinea pigs and its apoptotic effects on ACC-derived cells in culture and in xenografts, we speculate that this compound can disrupt mitochondrial functions in tumors of adrenocortical origin. The close
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cyclic AMP signaling in steroidogenic tissue such as the testis, and germline mutations in this gene have been associated with familial adrenocortical tumors ( Horvath et al . 2006 a , b , Kelly 2014 ). Multiple lines of evidence suggest that PDE11A
Université de Paris, Cochin Institute, Inserm U1016, CNRS 8104, Paris, France
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Centre of Membrane Proteins and Receptors (COMPARE), Universities of Nottingham and Birmingham, Birmingham, UK
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Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris, France
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University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA
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that include the PRKAR1A gene also were described with a variety of skeletal abnormalities ( Salpea et al. 2014 ). PRKACA defects were identified in isolated PPNAD, CPAs and other adrenocortical tumors ( Beuschlein et al. 2014 , Di Dalmazi et
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Multiple Endocrine Neoplasias type 1 (MEN 1) and type 2 (MEN 2) represent complex inherited (autosomal dominant traits) syndromes characterized by occurrence of distinct proliferative disorders of endocrine tissues, varying from hyperplasia to adenoma and carcinoma.
MEN 1 syndrome is characterized by parathyroid gland, anterior pituitary and endocrine pancreas tumors. Other endocrine and non endocrine tumors, such as carcinoids, lipomas, pinealomas, adrenocortical and thyroid follicular tumors, have been also described in MEN 1 patients occurring at higher frequency than in general population (Brandi ML et al. 1987). Recently also a spinal ependymoma has been found in a patient with MEN 1 syndrome (Kato H et al 1997)
MEN 2 syndromes recognize three main clinical entities, MEN 2A, characterized by medullary thyroid carcinoma (MTC), primary hyperparathyroidism (PHPT) and pheochromocytoma (PHEO); MEN 2B that exhibits MTC, usually developing sooner than the MEN 2A- associated one, pheochromocytoma, multiple neuromas of gastroenteric mucosa, myelinated corneal nerves (Gorlin RJ et al. 1968) and a typical marphanoid habitus; and familial medullary thyroid carcinoma only (FMTC) featuring by families with at least four members with MTC and no objective evidence of pheochromocytoma and parathyroid disease on screening of affected and at-risk members, as stated by the International RET Mutation Consortium (Larsson C et al. 1994).
Acknowledgements
This work was supported by grants of the Associazione Italiana per la Ricerca sul Cancro (to MLB), from CNR/PF ACRO (INV. 95.00316 PF 39) and by MURST 60% (to MLB).
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The type 1 alpha regulatory subunit (R1alpha) of cAMP-dependent protein kinase A (PKA) (PRKAR1A) is an important regulator of the serine-threonine kinase activity catalyzed by the PKA holoenzyme. Carney complex (CNC) describes the association 'of spotty skin pigmentation, myxomas, and endocrine overactivity'; CNC is in essence the latest form of multiple endocrine neoplasia to be described and affects the pituitary, thyroid, adrenal and gonadal glands. Primary pigmented nodular adrenocortical disease (PPNAD), a micronodular form of bilateral adrenal hyperplasia that causes a unique, inherited form of Cushing syndrome, is also the most common endocrine manifestation of CNC. CNC and PPNAD are genetically heterogeneous but one of the responsible genes is PRKAR1A, at least for those families that map to 17q22-24 (the chromosomal region that harbors PRKAR1A). CNC and/or PPNAD are the first human diseases to be caused by mutations in one of the subunits of the PKA holoenzyme. Despite the extensive literature on R1alpha and PKA, little is known about their potential involvement in cell cycle regulation, growth and/or proliferation. The presence of inactivating germline mutations and the loss of its wild-type allele in CNC lesions indicated that PRKAR1A could function as a tumor-suppressor gene in these tissues. However, there are conflicting data in the literature about PRKAR1A's role in human neoplasms, cancer cell lines and animal models. In this report, we review briefly the genetics of CNC and focus on the involvement of PRKAR1A in human tumorigenesis in an effort to reconcile the often diametrically opposite reports on R1alpha.
Rotterdam Adrenal Center, Department of Internal Medicine, Department of Pathology, Department of Surgery, Erasmus MC University Medical Center, Rotterdam, The Netherlands
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Rotterdam Adrenal Center, Department of Internal Medicine, Department of Pathology, Department of Surgery, Erasmus MC University Medical Center, Rotterdam, The Netherlands
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Rotterdam Adrenal Center, Department of Internal Medicine, Department of Pathology, Department of Surgery, Erasmus MC University Medical Center, Rotterdam, The Netherlands
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Rotterdam Adrenal Center, Department of Internal Medicine, Department of Pathology, Department of Surgery, Erasmus MC University Medical Center, Rotterdam, The Netherlands
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Rotterdam Adrenal Center, Department of Internal Medicine, Department of Pathology, Department of Surgery, Erasmus MC University Medical Center, Rotterdam, The Netherlands
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Rotterdam Adrenal Center, Department of Internal Medicine, Department of Pathology, Department of Surgery, Erasmus MC University Medical Center, Rotterdam, The Netherlands
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Rotterdam Adrenal Center, Department of Internal Medicine, Department of Pathology, Department of Surgery, Erasmus MC University Medical Center, Rotterdam, The Netherlands
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during surgery ( Song et al . 2011 ). Pathology The Weiss score (WS) is currently the most widely used classification system for the pathological assessment of adrenocortical tumors ( Weiss 1984 , Lau & Weiss 2009 ). It consists of nine morphological
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Comprehensive Cancer Centre Mainfranken, University of Wuerzburg Medical Centre, Wuerzburg, Germany
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Department of Medicine, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
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Comprehensive Cancer Centre Mainfranken, University of Wuerzburg Medical Centre, Wuerzburg, Germany
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hormone profile and seem to have a more favorable outcome ( Mendonca et al. 1995 , Riedmeier et al. 2021 , Zambaiti et al. 2021 ). Several authors have discussed the hypothesis of adrenocortical tumor development in the fetal zone of the adrenal
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, information about the natural history of adrenal lesions in MEN1 is scarce. Most MEN1-related adrenal tumors reported in the literature are nonfunctional, benign adrenocortical tumors, although functional cortical tumors, including aldosteronomas ( Beckers