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adrenocortical adenoma

Yoko Yoshii, Kenji Oki, Celso E Gomez-Sanchez, Haruya Ohno, Kiyotaka Itcho, Kazuhiro Kobuke, Masayasu Yoneda
The purpose of this study was to evaluate the DNA methylation levels of steroidogenic enzyme genes in aldosterone-producing adenoma (APA) and the effects of gene mutations in APA on the DNA methylation levels. DNA methylation array analysis was conducted using nonfunctioning adrenocortical adenoma (n=12) and APA (n=35) samples, including some with a KCNJ5 mutation (n=21), an ATP1A1 mutation (n=5), and without the known mutations (n=9). The quantitative polymerase chain reaction assay was performed for the detection of CYP11B2 and CYP11B1 expression levels in nonfunctioning adrenocortical adenoma and APA...
October 17, 2016: Hypertension
Satoshi Umemura
Primary aldosteronism (PA) is a heterogeneous group of disorders including both sporadic and familial forms (familial hyperaldosteronism type I, II and III). PA is the most frequent endocrine cause of secondary hypertension and associated with a higher rate of cardiovascular complications, compared with essential hypertension.Here I review the recent progress in understanding of the genetic and molecular mechanisms leading to autonomous aldosterone production in PA.Systematic screening detects primary aldosteronism in 5 to 10% of all patients with hypertension and in approximately 20% of patients with resistant hypertension...
September 2016: Journal of Hypertension
Koshiro Nishimoto, Minae Koga, Tsugio Seki, Kenji Oki, Elise P Gomez-Sanchez, Celso E Gomez-Sanchez, Mitsuhide Naruse, Tomokazu Sakaguchi, Shinya Morita, Takeo Kosaka, Mototsugu Oya, Tadashi Ogishima, Masanori Yasuda, Makoto Suematsu, Yasuaki Kabe, Masao Omura, Tetsuo Nishikawa, Kuniaki Mukai
Our group previously purified human and rat aldosterone synthase (CYP11B2 and Cyp11b2, respectively) from their adrenals and verified that it is distinct from steroid 11β-hydroxylase (CYP11B1 or Cyp11b1), the cortisol- or corticosterone-synthesizing enzyme. We now describe their distributions immunohistochemically with specific antibodies. In rats, there is layered functional zonation with the Cyp11b2-positive zona glomerulosa (ZG), Cyp11b1-positive zona fasciculata (ZF), and Cyp11b2/Cyp11b1-negative undifferentiated zone between the ZG and ZF...
October 14, 2016: Molecular and Cellular Endocrinology
Vince Kornél Grolmusz, Katalin Karászi, Tamás Micsik, Eszter Angéla Tóth, Katalin Mészáros, Gellért Karvaly, Gábor Barna, Péter Márton Szabó, Kornélia Baghy, János Matkó, Ilona Kovalszky, Miklós Tóth, Károly Rácz, Péter Igaz, Attila Patócs
Adrenocortical cancer (ACC) is a rare, but agressive malignancy with poor prognosis. Histopathological diagnosis is challenging and pharmacological options for treatment are limited. By the comparative reanalysis of the transcriptional malignancy signature with the cell cycle dependent transcriptional program of ACC, we aimed to identify novel biomarkers which may be used in the histopathological diagnosis and for the prediction of therapeutical response of ACC. Comparative reanalysis of publicly available microarray datasets included three earlier studies comparing transcriptional differences between ACC and benign adrenocortical adenoma (ACA) and one study presenting the cell cycle dependent gene expressional program of human ACC cell line NCI-H295R...
2016: American Journal of Cancer Research
Raissa Coelho Andrade, Anna Claudia Evangelista Dos Santos, Joaquim Caetano de Aguirre Neto, Julián Nevado, Pablo Lapunzina, Fernando Regla Vargas
Li-Fraumeni and Li-Fraumeni like syndromes (LFS/LFL) represent rare cancer-prone conditions associated mostly with sarcomas, breast cancer, brain tumors, and adrenocortical carcinomas. TP53 germline mutations are present in up to 80 % of families with classic Li-Fraumeni syndrome, and in 20-60 % of families with Li-Fraumeni like phenotypes. The frequency of LFS/LFL families with no TP53 mutations detected suggests the involvement of other genes in the syndrome. In this study, we searched for mutations in TP53 in 39 probands from families with criteria for LFS/LFL...
October 6, 2016: Familial Cancer
A Tirosh, M B Lodish, G Z Papadakis, C Lyssikatos, E Belyavskaya, C A Stratakis
Cortisol diurnal variation may be abnormal among patients with endogenous Cushing syndrome (CS). The study objective was to compare the plasma cortisol AM/PM ratios between different etiologies of CS. This is a retrospective cohort study, conducted at a clinical research center. Adult patients with CS that underwent adrenalectomy or trans-sphenoidal surgery (n=105) were divided to those with a pathologically confirmed diagnosis of Cushing disease (n=21) and those with primary adrenal CS, including unilateral adrenal adenoma (n=28), adrenocortical hyperplasia (n=45), and primary pigmented nodular adrenocortical disease (PPNAD, n=11)...
September 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Satoshi Umemura
Primary aldosteronism (PA) is a heterogeneous group of disorders including both sporadic and familial forms (familial hyperaldosteronism type I, II and III). PA is the most frequent endocrine cause of secondary hypertension and associated with a higher rate of cardiovascular complications, compared with essential hypertension.Here I review the recent progress in understanding of the genetic and molecular mechanisms leading to autonomous aldosterone production in PA.Systematic screening detects primary aldosteronism in 5 to 10% of all patients with hypertension and in approximately 20% of patients with resistant hypertension...
September 2016: Journal of Hypertension
Fady Hannah-Shmouni, Fabio R Faucz, Constantine A Stratakis
Alterations in the cyclic (c)AMP-dependent signaling pathway have been implicated in the majority of benign adrenocortical tumors (ACTs) causing Cushing syndrome (CS). Phosphodiesterases (PDEs) are enzymes that regulate cyclic nucleotide levels, including cyclic adenosine monophosphate (cAMP). Inactivating mutations and other functional variants in PDE11A and PDE8B, two cAMP-binding PDEs, predispose to ACTs. The involvement of these two genes in ACTs was initially revealed by a genome-wide association study in patients with micronodular bilateral adrenocortical hyperplasia...
2016: Frontiers in Endocrinology
Takuyuki Katabami, Satoshi Ishii, Ryusei Obi, Shiko Asai, Yasushi Tanaka
Unilateral and/or predominant uptake on adrenocortical scintigraphy (ACS) may be related to autonomous cortisol overproduction in patients with subclinical Cushing's syndrome (SCS). However, there is no information regarding whether increased tracer uptake on the tumor side or decreased uptake on the contralateral side on ACS is more greatly associated with inappropriate cortisol production. Therefore, we evaluated the relationship between quantitative (131)I-6β-iodomethyl-norcholesterol ((131)I-NP-59) uptake in both adrenal glands and parameters of autonomic cortisol secretion and attempted to set a cut off for SCS detection...
September 10, 2016: Endocrine Journal
Weiwei Zhou, Luming Wu, Jing Xie, Tingwei Su, Lei Jiang, Yiran Jiang, Yanan Cao, Jianmin Liu, Guang Ning, Weiqing Wang
The association of pathological features of cortisol-producing adrenocortical adenomas (ACAs) with somatic driver mutations and their molecular classification remain unclear. In this study, we explored the association between steroidogenic acute regulatory protein (StAR) expression and the driver mutations activating cyclic adenosine monophosphate (cAMP)/protein kinase A (PKA) signaling to identify the pathological markers of ACAs. Immunohistochemical staining for StAR and mutations in the protein kinase cAMP-activated catalytic subunit alpha (PRKACA), protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A) and guanine nucleotide binding protein, alpha stimulating (GNAS) genes were examined in 97 ACAs...
2016: PloS One
S G Creemers, P M van Koetsveld, E S R van den Dungen, E Korpershoek, F J van Kemenade, G J H Franssen, W W de Herder, R A Feelders, L J Hofland
CONTEXT: Treatment of patients with adrenocortical carcinomas (ACC) with mitotane and/or chemotherapy is often associated with toxicity and poor tumor response. New therapeutic options are urgently needed. OBJECTIVE: To evaluate the therapeutic possibilities of temozolomide (TMZ) in ACC cells and to assess the potential predictive role of the DNA repair gene O6-Methylguanine-DNA methyltransferase (MGMT) in adrenocortical tumors. METHODS: 3 human ACC cell lines and 8 primary ACC cultures were used to assess effects of TMZ in vitro...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
Samay Sappal, Jay Sulek, Steven C Smith, Lance J Hampton
BACKGROUND: We present an intrarenal adrenocortical adenoma discovered incidentally after robot-assisted partial nephrectomy and total adrenalectomy for a suspicious renal mass. Current literature describes the rare occurrence of an adrenocortical adenoma arising from a renal-adrenal fusion. This case represents an uncommon, benign pathology that should be considered in the differential diagnosis of an enhancing renal mass. CASE PRESENTATION: The patient is a 62-year-old female found to have an enhancing mass at the anterolateral aspect of the upper pole of the right kidney concerning for renal-cell carcinoma...
2016: J Endourol Case Rep
Laurent Vergnes, Graeme R Davies, Jason Y Lin, Michael W Yeh, Masha J Livhits, Avital Harari, Michael E Symonds, Harold S Sacks, Karen Reue
CONTEXT: Patients with pheochromocytoma (pheo) show presence of multilocular adipocytes that express uncoupling protein (UCP) 1 within periadrenal (pADR) and omental (OME) fat depots. It has been hypothesized that this is due to adrenergic stimulation by catecholamines produced by the pheo tumors. OBJECTIVE: To characterize the prevalence and respiratory activity of brown-like adipocytes within pADR, OME and subcutaneous (SC) fat depots in human adult pheo patients...
August 30, 2016: Journal of Clinical Endocrinology and Metabolism
Soutrik Das, Moumita Sengupta, Nelofar Islam, Paromita Roy, Chhanda Datta, Prafulla Kumar Mishra, Sugato Banerjee, Manoj Kumar Chaudhuri, Uttara Chatterjee
PURPOSE: Adrenocortical tumors (ACTs) are rare in pediatric age group. Pediatric ACTs behave differently from their histologically similar adult counterparts and Weiss criteria often cannot accurately predict their clinical behavior. Wieneke et al. proposed a set of 9 macroscopic and microscopic criteria for diagnosis of malignancy in pediatric ACTs. The aim of the present study was to validate the Wieneke criteria in pediatric ACTs and to correlate Ki-67 labeling index and p53 expression with the Wieneke score...
November 2016: Journal of Pediatric Surgery
J A Ramos-Vara, C B Frank, D DuSold, M A Miller
Expression of thyroid transcription factor (TTF)-1 corroborates a thyroid origin of neoplasms. Thyroglobulin and calcitonin immunohistochemistry (IHC) can distinguish between a follicular and C-cell origin of thyroid tumours, respectively. Pax8 (expressed by normal canine thyroid follicular cells) and napsin A (expressed mainly by C-cells) labelling was compared with labelling for TTF-1, thyroglobulin and calcitonin in 114 canine proliferative thyroid lesions. All 81 follicular tumours expressed thyroglobulin and were negative for calcitonin; 79/81 (98%) of these tumours expressed TTF-1 and Pax8 and 60/81 (74%) expressed napsin A...
August 24, 2016: Journal of Comparative Pathology
D Maccora, G V Walls, G P Sadler, R Mihai
INTRODUCTION The 2012 British Association of Endocrine and Thyroid Surgeons audit report showed that only 86 of 1359 patients who underwent adrenalectomy had a bilateral operation; thus the experience with this procedure remains limited. METHODS Retrospective review of patients undergoing bilateral adrenalectomy in a tertiary referral centre. RESULTS Between November 2005 and January 2016, bilateral adrenalectomy was performed in 23 patients (6 male, 17 female, age 43 ± 4 years) diagnosed with Cushing's disease (n = 13), hereditary phaeochromocytomas (n = 6), adrenocortical cancer (n = 2), colorectal metastatic disease (n = 1) and adrenocortical adenomas (n = 1)...
August 23, 2016: Annals of the Royal College of Surgeons of England
S G Creemers, P M van Koetsveld, F J van Kemenade, T G Papathomas, G J H Franssen, F Dogan, E M W Eekhoff, P van der Valk, W W de Herder, J A M J L Janssen, R A Feelders, L J Hofland
Adrenocortical carcinoma (ACC) is a rare malignancy with a poor prognosis. Discrimination of ACCs from adrenocortical adenomas (ACAs) is challenging on both imaging and histopathological grounds. High IGF2 expression is associated with malignancy, but shows large variability. In this study, we investigate whether specific methylation patterns of IGF2 regulatory regions could serve as a valuable biomarker in distinguishing ACCs from ACAs. Pyrosequencing was used to analyse methylation percentages in DMR0, DMR2, imprinting control region (ICR) (consisting of CTCF3 and CTCF6) and the H19 promoter...
September 2016: Endocrine-related Cancer
Kosuke Mukai, Tetsuhiro Kitamura, Daisuke Tamada, Masahiko Murata, Michio Otsuki, Iichiro Shimomura
Non-functioning pituitary adenoma (NFPA) is often associated with hypopituitarism. Diagnosis of hypopituitarism is important because of its poor prognosis and low quality of life. Among hypopituitarism, it is difficult to diagnose secondary adrenocortical insufficiency and GH deficiency without hormone stimulation test. Therefore, the aim of our study was to identify patients with NFPA who require more careful endocrinological examination. We examined the relationship between NFPA size and the prevalence of each hypopituitarism or the response of each anterior pituitary hormone by insulin tolerance test, LHRH test and TRH test...
August 18, 2016: Endocrine Journal
G Daniil, F L Fernandes-Rosa, J Chemin, X Jeunemaitre, M Polak, S Boulkroun, L Amar, T M Strom, P Lory, M C Zennaro
OBJECTIVE: Primary aldosteronism (PA) is the most common form of secondary hypertension. Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenomas (APA) and familial hyperaldosteronism (FH). Recently, a recurrent germline mutation in CACNA1H (encoding the T-type voltage-dependent calcium channel Cav3.2) was identified in a new familial form of early onset hypertension and PA. DESIGN AND METHOD: To identify new genes responsible for PA, we have performed whole exome sequencing in 23 patients with APA, 10 patients with FH and in two trios with the proband presenting early onset PA...
September 2016: Journal of Hypertension
Rachel M Saroka, Michael P Kane, Lawrence Robinson, Robert S Busch
BACKGROUND: Glucocorticoid replacement is commonly required to treat secondary adrenal insufficiency after surgical resection of unilateral cortisol-secreting adrenocortical adenomas. Here, we describe a patient with unilateral cortisol-secreting adenomas in which the preoperative use of mifepristone therapy was associated with recovery of the hypothalamic-pituitary-adrenal (HPA) axis, eliminating the need for postoperative glucocorticoid replacement. CASE PRESENTATION: A 66-year-old Caucasian man with type 2 diabetes mellitus, hyperlipidemia, hypertension, and obesity was hospitalized for Fournier's gangrene and methicillin-resistant Staphylococcus aureus sepsis...
2016: Clinical Medicine Insights. Endocrinology and Diabetes
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