Adrenal carcinoma in a patient with Gardner's syndrome: imaging findings.

Traill, Zoë; Tuson, J.; Woodham, C.W.B.

doi:10.2214/ajr.165.6.7484586

Cited by 26 publications

(21 citation statements)

References 6 publications

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“…Adrenal masses have been associated with FAP (7,8). Nevertheless, although ACTs in FAP have been reported from a clinical perspective (11)(12)(13)(14)(15)(16)(17), there is a paucity of research into the role of APC mutations in the ACT from FAP (11,13,16,18).…”

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confidence: 99%

Inactivation of theAPCGene Is Constant in Adrenocortical Tumors from Patients with Familial Adenomatous Polyposis but Not Frequent in Sporadic Adrenocortical Cancers

Gaujoux

Pinson

Gimenez-Roqueplo

et al. 2010

Clinical Cancer Research

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Purpose: In adrenocortical tumors (ACT), Wnt/β-catenin pathway activation can be explained by β-catenin somatic mutations only in a subset of tumors. ACT is observed in patients with familial adenomatous polyposis (FAP) with germline APC mutations, as well as in patients with Beckwith-Wiedemann syndrome with Wilms' tumors reported to have WTX somatic mutations. Both APC and WTX are involved in Wnt/β-catenin pathway regulation and may play a role in ACT tumorigenesis. The aim of this study was to report if APC and WTX may be associated with FAP-associated and sporadic ACT.Experimental Design: ACTs from patients with FAP and sporadic adrenocortical carcinomas (ACC) with abnormal β-catenin localization on immunohistochemistry but no somatic β-catenin mutations were studied. APC was analyzed by denaturing high-performance liquid chromatography followed by direct sequencing and by multiplex ligation-dependent probe amplification when allelic loss was suspected. WTX was studied by direct sequencing.Results: Four ACTs were observed in three patients with FAP and were ACC, adrenocortical adenoma, and bilateral macronodular adrenocortical hyperplasia, all with abnormal β-catenin localization. Biallelic inactivation of APC was strongly suggested by the simultaneous existence of somatic and germline alterations in all ACTs. In the 20 sporadic ACCs, a silent heterozygous somatic mutation as well as a rare heterozygous polymorphism in APC was found. No WTX mutations were observed.Conclusions: ACT should be considered a FAP tumor. Biallelic APC inactivation mediates activation of the Wnt/β-catenin pathway in the ACTs of patients with FAP. In contrast, APC and WTX genetic alterations do not play a significant role in sporadic ACC. Clin Cancer Res; 16(21); 5133-41. ©2010 AACR.

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confidence: 99%

Inactivation of theAPCGene Is Constant in Adrenocortical Tumors from Patients with Familial Adenomatous Polyposis but Not Frequent in Sporadic Adrenocortical Cancers

Gaujoux

Pinson

Gimenez-Roqueplo

et al. 2010

Clinical Cancer Research

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“…Desmoid tumors, mesenteric fibromatosis, dental abnormalities, gastric polyps, duodenal polyps, lymphoid hyperplasia, retinal pigment hypertrophy, hepatocellular carcinoma, benign intracranial tumors, and endocrine neoplasms are now considered part of the syndrome [2][3][4][5][6][7][8][9].…”

Section: Discussionmentioning

confidence: 99%

“…Although not common, endocrine neoplasms such as parathyroid, pituitary, pancreatic islet cell, and adrenal neoplasms have all been described in patients with GS [9]. Because most endocrine-associated tumors in patients with GS occur without symptoms, most cases are discovered incidentally or at autopsy.…”

Section: Discussionmentioning

confidence: 99%

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Hyperaldosteronism in an adolescent with Gardner's syndrome

Felner

Taweevisit

Gow

2009

Journal of Pediatric Surgery

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“…Benign and malignant ACTs were observed in FAP patients (28,34,107,146,222,243,249,292,301,323,336) with abnormal cytoplasmic and nuclear β-catenin localization on immunohistochemistry, revealing an activation of the Wnt/β-catenin pathway. In most ACTs from FAP, second-hit mutations or LOH of the normal APC allele were identified (34,107,146).…”

Section: Familial Adenomatous Polyposis and Wnt/β-catenin Pathwaymentioning

confidence: 99%

Adrenocortical Growth and Cancer

Lefèvre

Bertherat

Ragazzon

2014

Comprehensive Physiology

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The adrenal gland consists of two distinct parts, the cortex and the medulla. Molecular mechanisms controlling differentiation and growth of the adrenal gland have been studied in detail using mouse models. Knowledge also came from investigations of genetic disorders altering adrenal development and/or function. During embryonic development, the adrenal cortex acquires a structural and functional zonation in which the adrenal cortex is divided into three different steroidogenic zones. Significant progress has been made in understanding adrenal zonation. Recent lineage tracing experiments have accumulated evidence for a centripetal differentiation of adrenocortical cells from the subcapsular area to the inner part of the adrenal cortex. Understanding of the mechanism of adrenocortical cancer (ACC) development was stimulated by knowledge of adrenal gland development. ACC is a rare cancer with a very poor overall prognosis. Abnormal activation of the Wnt/β-catenin as well as the IGF2 signaling plays an important role in ACC development. Studies examining rare genetic syndromes responsible for familial ACT have played an important role in identifying genetic alterations in these tumors (like TP53 or CTNNB1 mutations as well as IGF2 overexpression). Recently, genomic analyses of ACT have shown gene expression profiles associated with malignancy as well as chromosomal and methylation alterations in ACT and exome sequencing allowed to describe the mutational landscape of these tumors. This progress leads to a new classification of these tumors, opening new perspectives for the diagnosis and prognostication of ACT. This review summarizes current knowledge of adrenocortical development, growth, and tumorigenesis.

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Adrenal carcinoma in a patient with Gardner's syndrome: imaging findings.

Cited by 26 publications

References 6 publications

Inactivation of theAPCGene Is Constant in Adrenocortical Tumors from Patients with Familial Adenomatous Polyposis but Not Frequent in Sporadic Adrenocortical Cancers

Inactivation of theAPCGene Is Constant in Adrenocortical Tumors from Patients with Familial Adenomatous Polyposis but Not Frequent in Sporadic Adrenocortical Cancers

Hyperaldosteronism in an adolescent with Gardner's syndrome

Adrenocortical Growth and Cancer

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