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.
References
1.
Devic A, Bussy MM: Un cas de polypose adenomateuse: generalisee a tout l’intestin. Arch Mal Appar Dig Mal Nutr 1912;6:278–289.
2.
Marchesa P, Fazio VW, Church JM, McGannon E: Adrenal masses in patients with familial adenomatous polyposis. Dis Colon Rectum 1997;40:1023–1028.
3.
Bulow S: Familial adenomatous polyposis. Ann Med 1989;21:299–307.
4.
Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, et al: Identification of FAP locus genes from chromosome 5q21. Science 1991;253:661–665.
5.
Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;253:665–669.
6.
Jagelman DG: Extracolonic manifestations of familial polyposis coli. Cancer Genet Cytogenet 1987;27:319–325.
7.
Porru D, Stancati S, Giliberto GL, Gerardini M, Corinti M, Dionigi P, Rovereto B: Bilateral ureteral compression by multiple abdominal desmoid tumors in Gardner syndrome: case report and literature review. Urology 2004;64:1031.e24–1031.e26.
8.
MacDonald JM, Davis WC, Crago HR, Berk AD: Gardner’s syndrome and periampullary malignancy. Am J Surg 1967;113:425–430.
9.
Marshall WH, Martin FI, MacKay IR: Gardner’s syndrome with adrenal carcinoma. Australas Ann Med 1967;16:242–244.
10.
Puig R, Herrera JM, Cassinelli JF: Síndrome de Gardner’s. Prensa Med Argent 1969;56:831–836.
11.
Coli RD, Moore JP, La Marche PH, DeLuca FG, Thayer WR: Gardner’s syndrome. A revisit to a previously described family. Dig Dis 1970;15:551–568.
12.
Gosserez M, Treheux A, Hoeffel JC, Striker M, Fays J, Valentin F: Une etiologie rare de tumeurs des maxillaires: le syndrome de Gardner. J Radiol Electrol 1970;51:503–506.
13.
Naylor EW, Gardner EJ, Adrenal adenomas in a patient with Gardner’s syndrome. Clin Genet 1981;20:67–73.
14.
Schneider NR, Cubilla AL, Chaganti RS: Association of endocrine neoplasia with multiple polyposis of the colon. Cancer 1983;51:1171–1175.
15.
Painter TA, Jagelman DG: Adrenal adenomas and adrenal carcinomas in association with hereditary adenomatosis of the colon and rectum. Cancer 1985;55:2001–2004.
16.
Beato P, Varela C: Masas adrenales en pacientes con síndrome de Gardner: descripción de dos casos. Med Clin (Barc) 2003;120:717–719.
17.
Bodmer WF, Bailey CJ, Bodmer J, Bussey HJ, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, et al: Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987;328; 614–616.
18.
Nakamura Y, Lathrop M, Leppert M, Dobbs M, Wasmuth J, Wolff E, Carlson M, Fujimoto E, Krapcho K, Sears T, et al: Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet 1988;43:638–644.
19.
Seow C, Neale K, Landgrebe JC, Bussey HJ, Thomson JP: A review of physical abnormalities in familial adenomatous polyposis. Singapore Med J 1991;32:139–142.
20.
Klemmer S, Pascoe L, DeCosse J: Ocurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet 1987;28:385–392.
21.
Clark SK, Neale KF, Landgrebe JC, Phillips RK: Desmoid tumors complicating familial adenomatous polyposis. Br J Surg 1999;86:1185–1189.
22.
Hayry P, Reitamo JJ, Totterman S, Hopfner-Hallikainen D, Sivula A: The desmoid tumor II: analysis factors possibly contributing to the etiology and growth behavior. Am J Clin Pathol 1982;77:674–680.
23.
Ozuner G, Hull TL: Familial desmoid in association with adrenal and ovarian masses and leiomyomas. Report of three cases. Dis Colon Rectum 1999;42:529–532.
24.
Camiel MR, Mule JE, Alexander LL, Benninghoff DL: Association of thyroid carcinoma with Gardner’s syndrome in siblings. N Engl J Med 1968;278:1056–1058.
25.
Herve R, Farret O, Mayaudon H, Helie C, Denee JM, Bauduceau B, Molinie C: Association syndrome de Gardner et carcinome thyroidien. Presse Med 1995;24:415.
26.
Bell B, Mazzaferri EL: Familial adenomatous polyposis (Gardner’s syndrome) and thyroid carcinoma: a case report and review of the literature. Digest Dis Sci 1993;38:185–190.
27.
Mansmann G, Lau J, Balk E, Rothberg M, Miyachi Y, Bornstein SR: The clinically Inapparent adrenal mass: update in diagnosis and management. Endocr Rev 2004;25:309–340.
© 2006 S. Karger AG, Basel
2006
Copyright / Drug Dosage / Disclaimer
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.
You do not currently have access to this content.