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481
Pictorial
Essay
1 Extracolonic Manifestations Polyposis Syndromes A. K. Harned,1
J. L. Buck,2
W. W. Olmsted,3
of the Familial
R. P. Moser,2’4
The classic prototypes of the gastrointestinal polyposis syndromes are familial polyposis coli and Gardner syndrome. Extracolonic manifestations have been described in both diseases,
and the distinction between them has become less clear. In fact, some authorities have suggested that familial polyposis coli and Gardner syndrome may represent a spectrum of the same disease. In both conditions, extracolonic expressions are the rule rather than the exception, and familiarity with them is essential for accurate diagnosis and correct patient management. In this
pictorial
essay,
we discuss
familial
polyposis
coli and Gardner
syndrome together under the heading familial adenomatous polyposis syndromes. The colonic characteristics of these syndromes will be reviewed briefly, followed by examples of the most common extracolonic manifestations.
and
P. R. Ros5
rectal
mucosectomy
the currently Gastric
Adenomatous
and construction
accepted
of an ileoanal
pouch
Involvement
Studies from Japan and the United States indicate that gastric polyps are present in approximately 20-60% of patients with familial adenomatous polyposis syndromes [1 2]. The fundic gland polyp (or hamartoma) is most common, ,
particularly
in Western
populations,
and differs
from the hyperplastic polyp [1 2]. Fundic gland multiple, small, and involve the gastric fundus sparing the antrum (Fig. 3). There is no potential ,
histologically polyps are and body, for malig-
nancy. Fundic gland polyps may occur also in patients Colonic
polyposis.
Manifestations
They
in middle-aged
The familial adenomatous polyposis syndromes are inherited diseases (autosomal dominant) with a high degree of penetrance. Approximately two thirds of all cases are inherited, with one third occurring spontaneously. Polyps of the colon usually arise in the first or second decade, and generally 1 00 or more polyps should be identified to establish the diagnosis (Fig. 1). Histologically, the polyps are tubular or tubulovillous adenomas. Colonic cancer develops in almost 100% of untreated patients (Fig. 2). Total colectomy with
have the same distribution,
women.
Gastric adenomas
without
but tend to occur
can also occur and
appear to be more prevalent in the Japanese population [1]. These polyps are slightly larger than the hamartomas, may be solitary or multiple, and preferentially involve the antrum. They are premalignant, and a few cases of gastric adenocarcinoma have been reported [1]. In some patients, adenomas and fundic gland polyps may coexist. In general, gastric polyps in patients with familial adenomatous polyposis syndromes should be followed closely, but prophylactic gastrectomy is not recommended.
Received June 19, 1990; accepted after revision September 1 2, 1990. The opinions or assertions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views Department of the Navy, Army, or Defense. Presented at the annual meeting of the American Roentgen Ray Society, San Francisco, May 1988. 1 Department of Radiology, University of Nebraska Medical Center, 600 5. 42nd St., Omaha, NE 68198-1045. Address reprint requests to A. K. Harned. 2 Department of Radiologic Pathology, Armed Forces Institute of Pathology, Washington, DC 20306-6000. 3 Department of Radiology, George Washington University, 901 23rd St., NW. , Washington, DC 20037. 4 Present address: Department of Radiology, Pennsylvania State University, The Milton S. Hershey Medical Center, Hershey, PA 17033. 5 Department of Radiology, University of Florida College of Medicine, Box J-374, JHMC, Gainesville, FL 32610. AJR 156:481-485,
March
1991 0361 -803X/91/1
563-0481
is
therapy.
of the
HARNED
Downloaded from www.ajronline.org by 216.158.243.110 on 10/20/15 from IP address 216.158.243.110. Copyright ARRS. For personal use only; all rights reserved
482
ET
AL.
AJA:156,
March
1991
Fig. 1.-colonic manifestations of familial adenomatous polyposis syndromes (familial polyposis coli and Gardner syndrome). A, Double-contrast colonic examination shows difluse distribution of multiple small sessile p01yps. B, Accompanying gross specimen with sessile adenomas carpeting colon and two larger pedunculated adenomas (arrows).
A
Es
Fig. 2.-Rectal adenocarcinoma in a patient with familial polyposis coli. A, Double-contrast colonic examination shows multiple polyps and rectal adenocarcinoma (arrow). B, Accompanying gross specimen of rectum shows adenocarcinoma (arrow) and sessile adenomas.
4,.
&;
:#{149}
..4 A Fig. 3.-Fundic gland polyps in a 25-year-old woman with familial polyposis coli. Upper gastrointestinal series shows multiple small polyps involving fundus and body (arrows) with sparing of antrum.
Fig. 4.-57-year-old woman presenting with dyspepsia 30 years after colon resection for familial polyposis coli. Upper gastrointestinal study shows multiple small duodenal polyps (arrows).
Duodenal
Involvement
Sixty to one hundred percent of these patients have duodenal polyps, making this site the second most common location for polyps in the familial adenomatous polyposis syndromes (Fig. 4) [1, 2]. Histologically, the polyps are ade-
nomas
[2]. They
tend
to be multiple,
very
small,
and difficult
to detect radiologically. These premalignant adenomas lead to an increased prevalence of duodenal carcinoma. The polyps are prone by colectomy.
to occur after the colon disease Patients should be carefully
larger adenomas
endoscopically
removed.
has been cured monitored and
AJR:156,
March
Periampullary
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EXTRACOLONIC
1991
and Biliary
GASTROINTESTINAL
Involvement
Mesenteric
It has been estimated that up to 1 2% of patients with the familial adenomatous polyposis syndromes will develop penampullary carcinoma (Fig. 5) [2, 3]. This prevalence is second only to that of colonic cancer. Most of the malignant lesions are duodenal adenocarcinomas involving the papilla [1 2]. These peniampullary neoplasms also tend to occur after colectomy. Much less common in these syndromes are carcinomas of the pancreas, gallbladder, and bile ducts (Fig. 6). ,
Jejunal
and Ileal Involvement
In the Japanese literature, jejunal and ileal polyps have been reported in approximately 60% of patients with familial adenomatous polyposis syndromes. The prevalence in Westem populations is unknown. Adenomas are dominant in the jejunum, whereas lymphoid hyperplasia is more common in the ileum. Several cases of carcinoma have been reported. These malignant lesions may also occur after colectomy (Fig. 7).
Fig. weight
5.-58-year-old loss 20 years
man with jaundice and after colectomy for Gardner
syndrome. Upper gastrointestinal ulcerating row).
mass
series shows an
in mid descending
Fig. 6.-49-year-old
woman
duodenum
with
“acute
(ar-
chole-
cystitis” was found to have cholangiocarcinoma of the common bile duct at surgery (arrow). Further studies revealed polyposis of colon and a family history of familial polyposis coli. (Reprinted permission from Hamed and Williams [3].)
with
!;‘....
Fig. 7.-55-year-old man had a colectomy for familial polyposis coli 31 years before anemia was discovered on a routine physical examination. A, Upper gastrointestinal study shows multiple polypoid lesions in second and third portions of duodenum and proximal jejunum (arrows). B, Multiple adenomas involving duodenum and jejunum (arrows) were found in gross specimen,
and a deeply invasive adenocarcinoma discovered
in proximal
jejunum
was also
(arrowhead).
:‘
POLYPOSIS
483
Fibromatosis
Mesenteric fibromatosis is an aggressive fibrous tumor, locally invasive but without evidence of metastases. There is a high rate of occurrence after colectomy as well as recurrence after excision of the fibrous tumor [2]. Histologically, mesentenic fibromatosis comprises proliferating fibroblasts, either packed tightly together or in a myxomatous matrix (Ros et al., presented at the annual meeting of the Society of Gastrointestinal Radiologists, January 1 987). The lesions are vascular, and necrosis is rare. On radiographs, a noncalcified soft-tissue mass may displace bowel loops (Fig. 8). Mucosal irregularities, caused by local invasion, may be evident on barium studies. Sonographic examinations may show either a hyper- or hypoechoic mass (Ros et aI., SGR, January1987). Fibromatosis classically appears as a homogeneous muscle density on CT without evidence of necrosis (Fig. 9) (Ros et al., SGR, January 1987). Skeletal
and Dental
Manifestations
At least 50% of patients with the familial adenomatous polyposis syndromes have osseous involvement [1, 2]. Mul-
HARNED
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484
tiple osteomas are the most common lesions, and the outer table of the skull, angle of the mandible, and frontal sinuses are the most common locations (Fig. 1 0). Radiologically, they appear as smoothly marginated blastic lesions. Osteomas may precede both clinical and nadiologic evidence of colonic polyposis. In the pelvis, the osteomas appear as punctate densities (Fig. 1 1). Long bone involvement is manifested by cortical hyperostosis (Fig. 1 1). Rare cases of osteosarcoma have been reported. A spectrum of dental abnormalities has also been described, including hypercementomas, odontomas, dentigerous cysts, supernumerary teeth, and multiple caries [1].
ET
AL.
AJR:156,
March
1991
and are typically located on the legs, face, scalp, and arms (Fig. 12) [2]. Pigmented lesions of the ocular fundus have been found in 90% of patients with Gardner syndrome who also had other extracolonic manifestations [4]. These lesions may serve as a marker when present bilaterally in people at risk for familial adenomatous polyposis syndromes [4].
Thyroid
Carcinoma
There is an increased prevalence of thyroid carcinoma in these syndromes, with a suggested prevalence in one series of 0.6% [1 2, 5]. Women dominate four to one in the age range of 1 5-35 years. Papillary adenocarcinoma is most common and tends to be multicentnic. Thyroid carcinoma may precede recognition of colonic polyps and may also occur after colectomy [5]. ,
Skin and Eye Multiple of patients
epidermal cysts are present with familial adenomatous
in approximately 65% polyposis syndromes
Fig. 8.-Mesenteric fibromatosis presenting as a noncalcified, midabdominal soft-tissue mass displacing loops of small intestine peripherally.
Fig. 9.-Mesentenc fibromatosis most often appears as a large, homogeneous, musclelike density on CT scans. Absence of areas of decreased density may be of help in diflerentiating mesenteric fibromatosis from lymphoma and leiomyosarcoma, which frequently have large areas of necrosis.
Fig.
10.-Radiographs
of osteomas
in the
adenomatous polyposis syndromes. A, Osteoma, outer table of skull (black arrow) B, Osteoma, angle of mandible (arrow). C, Osteoma, A
frontal
sinus
(arrow).
most
common
and angle
locations
of mandible
(white
arrow).
AJR:156,
March
Fig. I 1.-Less
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EXTRACOLONIC
1991
GASTROINTESTINAL
POLYPOSIS
485
common locations of bone Ic-
sions in patients with familial adenomatous polyposis syndromes. A, Osteomas appear on radiograph as punctate densities of pelvis (solid arrows). Note cortical hyperostosis of proximal femur (open arrow). B, Radiograph shows cortical hyperostosis of fibula (arrows).
B
A Fig. 12.-Epidermal cysts of forehead in a patient with Gardner syndrome.
Fig. 13-13-year-old
Barium
enema
shows
girl with Turcot adenocarcinoma
(arrows)
syndrome. in de-
colon (arrow) and at least two adjacent polyps. She also had a medullary glioblastoma of the spinal cord. (Reprinted with permission from Radin et al. [6].) scending
12
CNS Neoplasms
(Turcot
Syndrome)
Turcot syndrome is rare, presents in the second decade, and is characterized by colonic adenomas and CNS tumors such as glioblastomas and medulloblastomas (Fig. 1 3) [6]. Colonic malignant tumors are common, but patients most often die from the accompanying CNS tumors. Jagelman [2] found 1 0 cases of brain tumors in 1 61 patients with Gardner syndrome and familial polyposis coli. The findings of that study are not conclusive but suggest that Turcot syndrome, or at least CNS neoplasms, may be a legitimate expression of the familial adenomatous polyposis syndromes.
Conclusions Extracolonic manifestations of the familial adenomatous polyposis syndromes (familial polyposis coli and Gardner syndrome) are common, often life-threatening, and should be considered an integral part of these syndromes. Patients with these syndromes are at particular risk from the extracolonic expressions of duodenal/periampullary carcinoma, jejunal and
13
ileal carcinoma, thyroid carcinoma, CNS neoplasms, and mesenteric fibromatosis. Before and after colectomy, radiologists should encourage periodic systemic surveillance of patients with familial adenomatous polyposis syndromes, including examination of the thyroid and entire gastrointestinal tract.
REFERENCES 1 . Ushio K, Sasagawa M, Doi H, et al. Lesions associated with familial polyposis ccli: studies of lesions of the stomach, duodenum, bones and teeth. Gastrointest Radiol 1976;1 :67-80 2. Jagelman DG. Extracolonic manifestations of familial polyposis coli. Cancer Genet Cytogenet 1987:27:319-325 3. Hamed AK, Williams SM. Familial polyposis ccli and periampullary malignancy. Dis Colon Rectum 1982:25:227-229 4. Traboulsi El, Krush AJ, Gardner EJ, et al. Prevalence and importance of pigmented ocular fundus lesions in Gardner’s syndrome. N EngI J Med 1987;316:661 -667 5. Thompson JS, Hamed AK, Anderson JC, Hodson PE. Papillary carcinoma of the thyroid and familial polyposis coli. Dis Colon Rectum 1983:26: 583-585 6. Radin DR. Fortgang FC, Zee CS, Mikity VG, Halls JM. Turcot syndrome: a case with spinal cord and colonic neoplasms. AJR 1984:142:475-476
481
Pictorial
Essay
1 Extracolonic Manifestations Polyposis Syndromes A. K. Harned,1
J. L. Buck,2
W. W. Olmsted,3
of the Familial
R. P. Moser,2’4
The classic prototypes of the gastrointestinal polyposis syndromes are familial polyposis coli and Gardner syndrome. Extracolonic manifestations have been described in both diseases,
and the distinction between them has become less clear. In fact, some authorities have suggested that familial polyposis coli and Gardner syndrome may represent a spectrum of the same disease. In both conditions, extracolonic expressions are the rule rather than the exception, and familiarity with them is essential for accurate diagnosis and correct patient management. In this
pictorial
essay,
we discuss
familial
polyposis
coli and Gardner
syndrome together under the heading familial adenomatous polyposis syndromes. The colonic characteristics of these syndromes will be reviewed briefly, followed by examples of the most common extracolonic manifestations.
and
P. R. Ros5
rectal
mucosectomy
the currently Gastric
Adenomatous
and construction
accepted
of an ileoanal
pouch
Involvement
Studies from Japan and the United States indicate that gastric polyps are present in approximately 20-60% of patients with familial adenomatous polyposis syndromes [1 2]. The fundic gland polyp (or hamartoma) is most common, ,
particularly
in Western
populations,
and differs
from the hyperplastic polyp [1 2]. Fundic gland multiple, small, and involve the gastric fundus sparing the antrum (Fig. 3). There is no potential ,
histologically polyps are and body, for malig-
nancy. Fundic gland polyps may occur also in patients Colonic
polyposis.
Manifestations
They
in middle-aged
The familial adenomatous polyposis syndromes are inherited diseases (autosomal dominant) with a high degree of penetrance. Approximately two thirds of all cases are inherited, with one third occurring spontaneously. Polyps of the colon usually arise in the first or second decade, and generally 1 00 or more polyps should be identified to establish the diagnosis (Fig. 1). Histologically, the polyps are tubular or tubulovillous adenomas. Colonic cancer develops in almost 100% of untreated patients (Fig. 2). Total colectomy with
have the same distribution,
women.
Gastric adenomas
without
but tend to occur
can also occur and
appear to be more prevalent in the Japanese population [1]. These polyps are slightly larger than the hamartomas, may be solitary or multiple, and preferentially involve the antrum. They are premalignant, and a few cases of gastric adenocarcinoma have been reported [1]. In some patients, adenomas and fundic gland polyps may coexist. In general, gastric polyps in patients with familial adenomatous polyposis syndromes should be followed closely, but prophylactic gastrectomy is not recommended.
Received June 19, 1990; accepted after revision September 1 2, 1990. The opinions or assertions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views Department of the Navy, Army, or Defense. Presented at the annual meeting of the American Roentgen Ray Society, San Francisco, May 1988. 1 Department of Radiology, University of Nebraska Medical Center, 600 5. 42nd St., Omaha, NE 68198-1045. Address reprint requests to A. K. Harned. 2 Department of Radiologic Pathology, Armed Forces Institute of Pathology, Washington, DC 20306-6000. 3 Department of Radiology, George Washington University, 901 23rd St., NW. , Washington, DC 20037. 4 Present address: Department of Radiology, Pennsylvania State University, The Milton S. Hershey Medical Center, Hershey, PA 17033. 5 Department of Radiology, University of Florida College of Medicine, Box J-374, JHMC, Gainesville, FL 32610. AJR 156:481-485,
March
1991 0361 -803X/91/1
563-0481
is
therapy.
of the
HARNED
Downloaded from www.ajronline.org by 216.158.243.110 on 10/20/15 from IP address 216.158.243.110. Copyright ARRS. For personal use only; all rights reserved
482
ET
AL.
AJA:156,
March
1991
Fig. 1.-colonic manifestations of familial adenomatous polyposis syndromes (familial polyposis coli and Gardner syndrome). A, Double-contrast colonic examination shows difluse distribution of multiple small sessile p01yps. B, Accompanying gross specimen with sessile adenomas carpeting colon and two larger pedunculated adenomas (arrows).
A
Es
Fig. 2.-Rectal adenocarcinoma in a patient with familial polyposis coli. A, Double-contrast colonic examination shows multiple polyps and rectal adenocarcinoma (arrow). B, Accompanying gross specimen of rectum shows adenocarcinoma (arrow) and sessile adenomas.
4,.
&;
:#{149}
..4 A Fig. 3.-Fundic gland polyps in a 25-year-old woman with familial polyposis coli. Upper gastrointestinal series shows multiple small polyps involving fundus and body (arrows) with sparing of antrum.
Fig. 4.-57-year-old woman presenting with dyspepsia 30 years after colon resection for familial polyposis coli. Upper gastrointestinal study shows multiple small duodenal polyps (arrows).
Duodenal
Involvement
Sixty to one hundred percent of these patients have duodenal polyps, making this site the second most common location for polyps in the familial adenomatous polyposis syndromes (Fig. 4) [1, 2]. Histologically, the polyps are ade-
nomas
[2]. They
tend
to be multiple,
very
small,
and difficult
to detect radiologically. These premalignant adenomas lead to an increased prevalence of duodenal carcinoma. The polyps are prone by colectomy.
to occur after the colon disease Patients should be carefully
larger adenomas
endoscopically
removed.
has been cured monitored and
AJR:156,
March
Periampullary
Downloaded from www.ajronline.org by 216.158.243.110 on 10/20/15 from IP address 216.158.243.110. Copyright ARRS. For personal use only; all rights reserved
EXTRACOLONIC
1991
and Biliary
GASTROINTESTINAL
Involvement
Mesenteric
It has been estimated that up to 1 2% of patients with the familial adenomatous polyposis syndromes will develop penampullary carcinoma (Fig. 5) [2, 3]. This prevalence is second only to that of colonic cancer. Most of the malignant lesions are duodenal adenocarcinomas involving the papilla [1 2]. These peniampullary neoplasms also tend to occur after colectomy. Much less common in these syndromes are carcinomas of the pancreas, gallbladder, and bile ducts (Fig. 6). ,
Jejunal
and Ileal Involvement
In the Japanese literature, jejunal and ileal polyps have been reported in approximately 60% of patients with familial adenomatous polyposis syndromes. The prevalence in Westem populations is unknown. Adenomas are dominant in the jejunum, whereas lymphoid hyperplasia is more common in the ileum. Several cases of carcinoma have been reported. These malignant lesions may also occur after colectomy (Fig. 7).
Fig. weight
5.-58-year-old loss 20 years
man with jaundice and after colectomy for Gardner
syndrome. Upper gastrointestinal ulcerating row).
mass
series shows an
in mid descending
Fig. 6.-49-year-old
woman
duodenum
with
“acute
(ar-
chole-
cystitis” was found to have cholangiocarcinoma of the common bile duct at surgery (arrow). Further studies revealed polyposis of colon and a family history of familial polyposis coli. (Reprinted permission from Hamed and Williams [3].)
with
!;‘....
Fig. 7.-55-year-old man had a colectomy for familial polyposis coli 31 years before anemia was discovered on a routine physical examination. A, Upper gastrointestinal study shows multiple polypoid lesions in second and third portions of duodenum and proximal jejunum (arrows). B, Multiple adenomas involving duodenum and jejunum (arrows) were found in gross specimen,
and a deeply invasive adenocarcinoma discovered
in proximal
jejunum
was also
(arrowhead).
:‘
POLYPOSIS
483
Fibromatosis
Mesenteric fibromatosis is an aggressive fibrous tumor, locally invasive but without evidence of metastases. There is a high rate of occurrence after colectomy as well as recurrence after excision of the fibrous tumor [2]. Histologically, mesentenic fibromatosis comprises proliferating fibroblasts, either packed tightly together or in a myxomatous matrix (Ros et al., presented at the annual meeting of the Society of Gastrointestinal Radiologists, January 1 987). The lesions are vascular, and necrosis is rare. On radiographs, a noncalcified soft-tissue mass may displace bowel loops (Fig. 8). Mucosal irregularities, caused by local invasion, may be evident on barium studies. Sonographic examinations may show either a hyper- or hypoechoic mass (Ros et aI., SGR, January1987). Fibromatosis classically appears as a homogeneous muscle density on CT without evidence of necrosis (Fig. 9) (Ros et al., SGR, January 1987). Skeletal
and Dental
Manifestations
At least 50% of patients with the familial adenomatous polyposis syndromes have osseous involvement [1, 2]. Mul-
HARNED
Downloaded from www.ajronline.org by 216.158.243.110 on 10/20/15 from IP address 216.158.243.110. Copyright ARRS. For personal use only; all rights reserved
484
tiple osteomas are the most common lesions, and the outer table of the skull, angle of the mandible, and frontal sinuses are the most common locations (Fig. 1 0). Radiologically, they appear as smoothly marginated blastic lesions. Osteomas may precede both clinical and nadiologic evidence of colonic polyposis. In the pelvis, the osteomas appear as punctate densities (Fig. 1 1). Long bone involvement is manifested by cortical hyperostosis (Fig. 1 1). Rare cases of osteosarcoma have been reported. A spectrum of dental abnormalities has also been described, including hypercementomas, odontomas, dentigerous cysts, supernumerary teeth, and multiple caries [1].
ET
AL.
AJR:156,
March
1991
and are typically located on the legs, face, scalp, and arms (Fig. 12) [2]. Pigmented lesions of the ocular fundus have been found in 90% of patients with Gardner syndrome who also had other extracolonic manifestations [4]. These lesions may serve as a marker when present bilaterally in people at risk for familial adenomatous polyposis syndromes [4].
Thyroid
Carcinoma
There is an increased prevalence of thyroid carcinoma in these syndromes, with a suggested prevalence in one series of 0.6% [1 2, 5]. Women dominate four to one in the age range of 1 5-35 years. Papillary adenocarcinoma is most common and tends to be multicentnic. Thyroid carcinoma may precede recognition of colonic polyps and may also occur after colectomy [5]. ,
Skin and Eye Multiple of patients
epidermal cysts are present with familial adenomatous
in approximately 65% polyposis syndromes
Fig. 8.-Mesenteric fibromatosis presenting as a noncalcified, midabdominal soft-tissue mass displacing loops of small intestine peripherally.
Fig. 9.-Mesentenc fibromatosis most often appears as a large, homogeneous, musclelike density on CT scans. Absence of areas of decreased density may be of help in diflerentiating mesenteric fibromatosis from lymphoma and leiomyosarcoma, which frequently have large areas of necrosis.
Fig.
10.-Radiographs
of osteomas
in the
adenomatous polyposis syndromes. A, Osteoma, outer table of skull (black arrow) B, Osteoma, angle of mandible (arrow). C, Osteoma, A
frontal
sinus
(arrow).
most
common
and angle
locations
of mandible
(white
arrow).
AJR:156,
March
Fig. I 1.-Less
Downloaded from www.ajronline.org by 216.158.243.110 on 10/20/15 from IP address 216.158.243.110. Copyright ARRS. For personal use only; all rights reserved
EXTRACOLONIC
1991
GASTROINTESTINAL
POLYPOSIS
485
common locations of bone Ic-
sions in patients with familial adenomatous polyposis syndromes. A, Osteomas appear on radiograph as punctate densities of pelvis (solid arrows). Note cortical hyperostosis of proximal femur (open arrow). B, Radiograph shows cortical hyperostosis of fibula (arrows).
B
A Fig. 12.-Epidermal cysts of forehead in a patient with Gardner syndrome.
Fig. 13-13-year-old
Barium
enema
shows
girl with Turcot adenocarcinoma
(arrows)
syndrome. in de-
colon (arrow) and at least two adjacent polyps. She also had a medullary glioblastoma of the spinal cord. (Reprinted with permission from Radin et al. [6].) scending
12
CNS Neoplasms
(Turcot
Syndrome)
Turcot syndrome is rare, presents in the second decade, and is characterized by colonic adenomas and CNS tumors such as glioblastomas and medulloblastomas (Fig. 1 3) [6]. Colonic malignant tumors are common, but patients most often die from the accompanying CNS tumors. Jagelman [2] found 1 0 cases of brain tumors in 1 61 patients with Gardner syndrome and familial polyposis coli. The findings of that study are not conclusive but suggest that Turcot syndrome, or at least CNS neoplasms, may be a legitimate expression of the familial adenomatous polyposis syndromes.
Conclusions Extracolonic manifestations of the familial adenomatous polyposis syndromes (familial polyposis coli and Gardner syndrome) are common, often life-threatening, and should be considered an integral part of these syndromes. Patients with these syndromes are at particular risk from the extracolonic expressions of duodenal/periampullary carcinoma, jejunal and
13
ileal carcinoma, thyroid carcinoma, CNS neoplasms, and mesenteric fibromatosis. Before and after colectomy, radiologists should encourage periodic systemic surveillance of patients with familial adenomatous polyposis syndromes, including examination of the thyroid and entire gastrointestinal tract.
REFERENCES 1 . Ushio K, Sasagawa M, Doi H, et al. Lesions associated with familial polyposis ccli: studies of lesions of the stomach, duodenum, bones and teeth. Gastrointest Radiol 1976;1 :67-80 2. Jagelman DG. Extracolonic manifestations of familial polyposis coli. Cancer Genet Cytogenet 1987:27:319-325 3. Hamed AK, Williams SM. Familial polyposis ccli and periampullary malignancy. Dis Colon Rectum 1982:25:227-229 4. Traboulsi El, Krush AJ, Gardner EJ, et al. Prevalence and importance of pigmented ocular fundus lesions in Gardner’s syndrome. N EngI J Med 1987;316:661 -667 5. Thompson JS, Hamed AK, Anderson JC, Hodson PE. Papillary carcinoma of the thyroid and familial polyposis coli. Dis Colon Rectum 1983:26: 583-585 6. Radin DR. Fortgang FC, Zee CS, Mikity VG, Halls JM. Turcot syndrome: a case with spinal cord and colonic neoplasms. AJR 1984:142:475-476
