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Diseases of the Colon & Rectum

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01-04-2008 | Case Report

Rare Coincidence of Familial Adenomatous Polyposis and a Retroperitoneal Fibromyxoid Sarcoma: Report of a Case

Authors: Olof Jannasch, M.D., Frank Dombrowski, M.D., Hans Lippert, M.D., Frank Meyer, M.D.

Published in: Diseases of the Colon & Rectum | Issue 4/2008

Abstract

Purpose

Familial adenomatous polyposis is an autosomal-dominant inherited disease with development of as many as thousands of adenomas within colon and rectum. All untreated patients will develop colorectal adenocarcinoma. A variety of extracolonic manifestations can occur, although malignant tumors are rare. An association of familial adenomatous polyposis and sarcomas was reported in a few cases only.

Methods

We present the exceptional case of a 24-year-old male with genetically verified familial adenomatous polyposis (deletion of 10 base pairs at position 228–237 of exon 15A). The patient underwent prophylactic subtotal proctocolectomy and ileal-pouch rectal anastomosis in 2003. Two years later, an obstruction of the left ureter caused by a retroperitoneal mass was diagnosed.

Results

Histopathologic findings after complete tumor resection showed a low-grade fibromyxoid sarcoma. CT scan and clinical follow-up through 15 months postoperatively revealed no recurrent tumor growth.

Conclusions

To our knowledge, this is the first reported case of familial adenomatous polyposis with metachronous retroperitoneal fibromyxoid sarcoma. Proctocolectomy or total colectomy and complete tumor resection is the treatment of choice in this case. In addition to more common semimalignant retroperitoneal desmoid tumors in familial adenomatous polyposis patients, a malignant soft-tissue tumor also has to be considered for differential diagnosis.

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Title: Rare Coincidence of Familial Adenomatous Polyposis and a Retroperitoneal Fibromyxoid Sarcoma: Report of a Case
Authors: Olof Jannasch, M.D.
Frank Dombrowski, M.D.
Hans Lippert, M.D.
Frank Meyer, M.D.
Publication date: 01-04-2008
Publisher: Springer-Verlag
Published in: Diseases of the Colon & Rectum / Issue 4/2008
Print ISSN: 0012-3706
Electronic ISSN: 1530-0358
DOI: https://doi.org/10.1007/s10350-007-9163-6

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Rare Coincidence of Familial Adenomatous Polyposis and a Retroperitoneal Fibromyxoid Sarcoma: Report of a Case

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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