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Expression studies familial bilateral macronodular adrenal hyperplasia

ABSTRACT: Expression studies familial bilateral macronodular adrenal hyperplasia

PROVIDER: PRJNA720089 | ENA |

REPOSITORIES: ENA

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Expression studies familial bilateral macronodular adrenal hyperplasia

Project description:The objectives were to determine the molecular mechanisms involved in the development and progression of familial BMAH tumours, and the mechanisms of their inefficient steroidogenesis.

2021-04-07 | GSE171558 | GEO

Affymetrix SNP6 array data for ACTH-Independent Macronodular Adrenal Hyperplasia (AIMAH) samples

Project description:AIMAH is an ACTH-independent bilateral enlargement of the adrenal cortex occuring during adulthood. The enlargment is related to the growth of multiple benign nodules. This condition is associated with various degrees of cortisol hypersecretion. The occurence of several nodules in both adrenals, and the existence of familial forms, suggest the existence of a germline genetic predisposition. To find the gene(s), the aim of the project was to look for recurrent chromosomal alterations in the AIMAH nodules. Extensive mapping of somatic gains, losses and copy-neutral loss of heterozygosity (LOH) was performed with Affymetrix SNP6 arrays. A copy neutral LOH of 16p, occuring in 7 of 26 patients, was one of the only recurrent alterations, pointing towards a candidate gene in this region. Of note this condition differs from the congenital adrenal hyperplasias, related to genetic alterations of steroidogenesis (the latter is an ACTH dependent adrenal hyperplasia). Affymetrix SNP6 arrays were performed according to the manufacturer's directions on DNA extracted from cryopreserved tumor samples or peripheral blood samples. Copy number and LOH analysis of Affymetrix SNP6 arrays was performed for AIMAH nodules from 26 patients, including 18 with paired leucocyte and nodules (1 to 4 nodules per patient), and 8 with a single nodule (no paired leucocyte available)

2013-11-28 | E-GEOD-42171 | biostudies-arrayexpress

Affymetrix SNP6 array data for ACTH-Independent Macronodular Adrenal Hyperplasia (AIMAH) samples

2013-11-28 | GSE42171 | GEO

In vivo verification of the pathophysiology of lipoid congenital adrenal hyperplasia in the adrenal cortex

Project description:Our study showed that the steroidogenic capacity firstly decreased without tissue change (the first hit) and secondarily declined with tissue change (the second hit) in the adrenal cortex of lipoid congenital adrenal hyperplasia. The key feature of the secondary decline of steroidogenic capacity might be the decreased gene expression related to steroid biosynthesis following the lipid accumulation exacerbated by ACTH hypersecretion.

2018-12-04 | GSE123300 | GEO

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.

Project description:To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families and 23 sporadic PBMAH patients. ARMC5 pathogenic germline mutations were identified in all 3 PBMAH families. Secondary ARMC5 somatic mutations were found in two adrenal nodules from two PBMAH family members with ARMC5 germline mutations. PBMAH family members with ARMC5 pathogenic germline mutations displayed various clinical manifestations. ARMC5 pathogenic germline mutations were identified in 5 sporadic PBMAH patients among whom one patient displayed both hypercortisolism and primary aldosteronism. We detected a total of 10 ARMC5 pathogenic mutations, of which 8 had not been previously reported. Our results suggest that ARMC5 pathogenic germline mutations are common in familial and sporadic Chinese PBMAH patients, and demonstrate the importance of ARMC5 screening in PBMAH family members to detect patients with insidious PBMAH.

| S-EPMC5784932 | biostudies-literature

A large germline alteration affecting MAX and FUT8, causing familial bilateral malignant pheochromocytoma and renal oncocytoma

Project description:Familial pheochromocytoma (PCC) has been associated with germline mutations in 14 genes. Here we investigated three siblings, who presented with (metastatic) bilateral pheochromocytomas, renal oncocytoma, and erythrocytosis. By SNP-array on one patient’s germline DNA a large complex genomic alteration was identified encompassing the intragenic and promoter regions of Myc-Associated Factor X (MAX) and alpha-(1,6)-fucosyltransferase (FUT8). The alteration was confirmed in all patients, as well as loss of the wild type MAX and FUT8 alleles and corresponding loss of protein expression. Uniparental disomy of chromosome 14q, previously demonstrated as a hallmark for MAX-related PCC, was also shown in the index patient by SNP-array. Our results indicate that large genomic deletions of MAX should be considered in familial and bilateral PCC with prior negative testing for gene mutations. In addition, MAX appears to be a new tumor suppressor gene for renal oncocytomas. SNP array was performed for 2 samples: 1 tumor DNA sample and 1 corresponding germline DNA sample

2015-05-13 | E-GEOD-68794 | biostudies-arrayexpress

miRNA expression in plasma samples from Non-functional adenoma (NFA), Cortisol-producing adneoma (CPA)and primary bilateral macronodular adrenal hyperplasia (PBMAH)

Project description:miRNA expression in plasma samples from Non-functional adenoma (NFA), Cortisol-producing adneoma (CPA)and primary bilateral macronodular adrenal hyperplasia (PBMAH)

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A large germline alteration affecting MAX and FUT8, causing familial bilateral malignant pheochromocytoma and renal oncocytoma

2015-05-13 | GSE68794 | GEO

In vivo verification of the pathophysiology of lipoid congenital adrenal hyperplasia in the adrenal cortex

Project description:In vivo verification of the pathophysiology of lipoid congenital adrenal hyperplasia in the adrenal cortex

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ACTH-independent macronodular adrenocortical hyperplasia (AIMAH)

Project description:ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a clinically and genetically heterogeneous disorder that can be associated with aberrant hormone receptors. Whole-genome expression profiling was analyzed in samples of different nodules from a patient with AIMAH. Total RNA obtained from adrenal nodules were compared to those samples obtained normal adrenal pools

2010-10-30 | E-GEOD-25031 | biostudies-arrayexpress

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