Clinically Inapparent Adrenal Mass in a Patient with Familial Adenomatous Polyposis

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Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominant condition characterized by multiple colorectal adenomas that can progress to carcinoma. FAP can be associated with diverse extracolonic manifestation, including desmoid tumors and adrenal masses. We report our experience with a patient diagnosed of FAP, who developed a desmoid tumor and an adrenal mass in the follow-up. To our knowledge, this is the first case in the literature in which a hypersecretion of aldosterone and cortisol in the adrenal mass of a patient diagnosed of FAP has been demonstrated.

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Most cited references 18

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Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.

I. Nishisho, Y. Nakamura, Y Miyoshi … (1991)

Previous studies suggested that one or more genes on chromosome 5q21 are responsible for the inheritance of familial adenomatous polyposis (FAP) and Gardner's syndrome (GS), and contribute to tumor development in patients with noninherited forms of colorectal cancer. Two genes on 5q21 that are tightly linked to FAP (MCC and APC) were found to be somatically altered in tumors from sporadic colorectal cancer patients. One of the genes (APC) was also found to be altered by point mutation in the germ line of FAP and GS patients. These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS. The identification of these genes should aid in understanding the pathogenesis of colorectal neoplasia and in the diagnosis and counseling of patients with inherited predispositions to colorectal cancer.

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The clinically inapparent adrenal mass: update in diagnosis and management.

Michael Rothberg, Joseph Lau, Y. Miyachi … (2004)

Clinically inapparent adrenal masses are incidentally detected after imaging studies conducted for reasons other than the evaluation of the adrenal glands. They have frequently been referred to as adrenal incidentalomas. In preparation for a National Institutes of Health State-of-the-Science Conference on this topic, extensive literature research, including Medline, BIOSIS, and Embase between 1966 and July 2002, as well as references of published metaanalyses and selected review articles identified more than 5400 citations. Based on 699 articles that were retrieved for further examination, we provide a comprehensive update of the diagnostic and therapeutic approaches focusing on endocrine and radiological features as well as surgical options. In addition, we present recent developments in the discovery of tumor markers, endocrine testing for subclinical disease including autonomous glucocorticoid hypersecretion and silent pheochromocytoma, novel imaging techniques, and minimally invasive surgery. Based on the statements of the conference, the available literature, and ongoing studies, our aim is to provide practical recommendations for the management of this common entity and to highlight areas for future studies and research.

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Localization of the gene for familial adenomatous polyposis on chromosome 5.

W Bodmer, C J Bailey, J Bodmer … (2015)

Colorectal cancer is the second most common cancer in the United Kingdom and other developed countries in the West. Although it is usually not familial, there is a rare dominantly inherited susceptibility to colon cancer, familial adenomatous polyposis (FAP; also often previously called familial polyposis coli). During adolescence affected individuals develop from a few hundred to over a thousand adenomatous polyps in their large bowel. These are sufficiently likely to give rise to adenocarcinomas to make prophylactic removal of the colon usual in diagnosed FAP individuals. Adenomas may occur elsewhere in the gastrointestinal tract and the condition is often associated with other extracolonic lesions, such as epidermoid cysts, jaw osteomata and fibrous desmoid tumours. Adenomata have been suggested to be precancerous states for most colorectal tumours. Knudson has suggested that the mutation for a dominantly inherited cancer susceptibility may be the first step in a recessive change in the tumour cells, and that the same gene may be involved in both familial and non-familial cases of a given tumour. Following up a case report of an interstitial deletion of chromosome 5 in a mentally retarded individual with multiple developmental abnormalities and FAP, we have now shown that the FAP gene is on chromosome 5, most probably near bands 5q21-q22.

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Author and article information

Journal

Journal ID (publisher-id): HRE

Journal ID (nlm-ta): Horm Res Paediatr

Journal ID (doi): 10.1159/issn.1663-2818

Title: Hormone Research in Paediatrics

Publisher: S. Karger AG

ISSN (Print): 1663-2818

ISSN (Electronic): 1663-2826

Publication date Subscription-year: 2006

Publication date (Print): October 2006

Publication date (Electronic): 20 October 2006

Volume: 66

Issue: 5

Pages: 207-210

Affiliations

Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain

Article

Publisher ID: 94742 Other ID: Horm Res 2006;66:207–210

DOI: 10.1159/000094742

PubMed ID: 16865001

SO-VID: ef405f0a-266d-4782-be18-4a1b5a362cdc

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Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

History

Date received : 09 March 2005

Date accepted : 15 May 2006

Page count

References: 27, Pages: 4

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Clinically Inapparent Adrenal Mass in a Patient with Familial Adenomatous Polyposis

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Abstract

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Karger: Endocrinology

Most cited references 18

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.

The clinically inapparent adrenal mass: update in diagnosis and management.

Localization of the gene for familial adenomatous polyposis on chromosome 5.

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