Authors
James C Cusack, Jr, MD
Michael J Overman, MD
Robert A Wolff, MD Section Editor
Richard M Goldberg, MD Deputy Editor
Diane MF Savarese, MD
Last literature review version 17.1: January 2009 | This topic last updated: January 18,
2009 (More)
INTRODUCTION A variety of tumors, both malignant and benign, may arise within the
small intestine. Malignant tumors include adenocarcinomas, carcinoids, stromal tumors,
and lymphomas. Benign lesions that may arise in the small bowel include adenomas,
leiomyomas, fibromas, and lipomas.
The diagnosis and staging of small bowel tumors will be reviewed here. The epidemiology,
clinical manifestations, and treatment of the specific types of tumors are discussed
separately. (See "Epidemiology, clinical features, and types of small bowel neoplasms" and
see "Treatment of small bowel neoplasms").
Patients whose symptoms are such that a small bowel tumor is part of the differential
diagnosis should undergo a complete history, physical examination, and screening for fecal
occult blood. A minimum laboratory work-up should include a complete blood count,
measurement of serum electrolytes, and liver function tests.
The specific components of the diagnostic and staging workup are addressed in the
following sections. There is no single method that is best for imaging of the small intestine
in a patient with a suspected small bowel tumor. The choices are radiographic (CT scan,
small bowel series, enteroclysis) or endoscopic (wireless capsule endoscopy, push
enteroscopy, double-balloon endoscopy).
Depending on the clinical scenario, multiple tests may be needed to adequately evaluate
the small intestine. The best testing strategy and sequence of diagnostic tests are not
established, and there is debate as to how much diagnostic workup is adequate to exclude
a small bowel tumor. If the suspicion of a small bowel tumor is high, one school of thought
holds that at least two imaging methods (eg, wireless video capsule endoscopy followed by
double balloon enteroscopy) should be used to exclude a small bowel malignancy.
However, there is no consensus on this issue. (See "Wireless video capsule endoscopy"
and see "Overview of double balloon endoscopy")
UGI/SBFT Upper GI series with small bowel follow through (UGI/SBFT) may show a
mass lesion, mucosal defect, or intussusception. In older series, the sensitivity was
approximately 50 to 60 percent for the detection of advanced small bowel tumors [7-9] . In
one report of 89 patients with small bowel tumors, UGI/SBFT was diagnostic in 57 percent
of malignant tumors but only 25 percent of primary benign tumors.
Upper endoscopy Standard upper endoscopy is capable of reaching only the proximal
duodenum. It may be adequate if a proximal small bowel tumor is suspected.
Wireless video capsule endoscopy Wireless video capsule endoscopy (VCE) provides a
noninvasive means of visualizing the entire small bowel. It has become a standard
diagnostic approach for patients with obscure gastrointestinal bleeding. This relatively new
technology has already supplanted some of the older techniques, such as enteroclysis, in
the workup of small bowel tumors. (See "Wireless video capsule endoscopy").
The utility of VCE in diagnosing small bowel tumors was demonstrated in a retrospective
study of 562 patients who underwent the procedure at Mount Sinai Medical Center from
2001 to 2003 [24] . Indications for endoscopy were obscure gastrointestinal bleeding (79
percent), chronic abdominal pain (5 percent), or search for carcinoid primary (4 percent). A
total of 50 patients were diagnosed with small bowel tumors, of which 48 percent were
malignant. Among patients who were younger than 50 years old undergoing VCE for
obscure gastrointestinal bleeding, nine (13 percent) had a small bowel tumor. There was
one false-positive result (which prompted a negative surgical exploration), but the number
of false negative studies could not be ascertained as information on outcomes among
patients who had a negative VCE was not available.
Information on the false negative rate of VCE was provided in a meta-analysis of 310
patients from 24 studies in which VCE was compared prospectively to a standard
diagnostic workup (push enteroscopy in 220 patients, small-bowel series 140 patients, or
colonoscopy with ileoscopy in 90 patients) [25] . A total of 106 neoplasms were diagnosed,
of which VCE missed 20 (false negative rate 19 percent). However, this was lower than the
miss rate for the standard diagnostic workup method (63 percent) [25]
The main disadvantage of wireless video capsule endoscopy is that it does not permit
tissue sampling. It should generally not be performed in patients in whom small bowel
obstruction is suspected since the capsule may become lodged proximal to the obstruction
and may require laparotomy for retrieval.
Other methods A variety of novel endoscopic methods to visualize the small bowel are
in various stages of development or are available on a limited basis. These include a
single-balloon enteroscope (Olympus Optical Co, Ltd, Tokyo) and the Spirus Discovery SB
system (Spirus Medical Inc, Stoughton, MA). (See "Evaluation of obscure gastrointestinal
bleeding").
Tumor markers The role of tumor markers in the evaluation of a suspected small bowel
tumor is unclear. The majority of small bowel adenocarcinomas are positive for
carcinoembryonic antigen (CEA) by immunohistochemistry [27,28] , and serum CEA was
elevated in 44 percent of patients with metastatic or locally advanced small bowel
adenocarcinoma in one report [29] . However, CEA is neither sufficiently sensitive nor
specific to be used for diagnostic purposes.
Measurement of urinary 5-hydroxyindoleacetic acid (5-HIAA) or serum chromogranin A
(CGA) should not be routine but instead, done only if there is a strong clinical suspicion of
carcinoid.
Diagnostic testing for carcinoid Patients with carcinoids often present with symptoms
similar to those of other small bowel tumors. However, they may also become symptomatic
from hormones secreted by the tumor cells. The presence of carcinoid syndrome is usually
suspected because of otherwise unexplained diarrhea or flushing. (See "Diagnosis of the
carcinoid syndrome and tumor localization" and see "Epidemiology, clinical features, and
types of small bowel neoplasms", section on Carcinoid tumors).
Urinary excretion of 5-HIAA The most useful initial diagnostic test in patients with
suspected carcinoid syndrome is to measure 24-hour urinary excretion of 5-HIAA, which is
the end product of serotonin metabolism (show figure 1). This test has a sensitivity of 75
percent and specificity of up to 100 percent [30] , but is fraught with errors that may be
induced by the ingestion of certain drugs and foods (show table 2).
Most patients with the carcinoid syndrome have urinary 5-HIAA excretion above 100
mg/day (523 micromol/day). In one study, for example, urinary 5-HIAA excretion in patients
with the carcinoid syndrome ranged from 99 to 2070 mg/day (518 to 10826 micromol/day)
[31] . Lower, but still elevated values were seen in patients with metastatic carcinoid
tumors, but not carcinoid syndrome (50 to 260 mg/day [262 to 1360 micromol/day]). There
is a good correlation between tumor mass and urinary 5-HIAA levels; the sensitivity of
urinary 5-HIAA is diminished in patients with nonmetastatic or asymptomatic carcinoid
tumors [32] . (See "Diagnosis of the carcinoid syndrome and tumor localization").
Other biochemical tests Other useful initial diagnostic tests are serum chromogranin
and serum 5-hydroxytryptamine (5-HT, serotonin). Serum chromogranin levels above 32
unit/L have a 75 percent sensitivity and 84 percent specificity for the detection of
neuroendocrine tumors [33] . (See "Diagnosis of the carcinoid syndrome and tumor
localization").
Surgical exploration In the past, despite a thorough history, physical examination, and
complete diagnostic workup, the correct diagnosis of small bowel malignancy was
established preoperatively in only 70 percent of cases, with the remainder diagnosed at
laparotomy [39] . However, improvements in cross-sectional imaging and the development
of techniques such as wireless video capsule endoscopy have reduced the need for
diagnostic laparotomy.
Nevertheless, exploratory laparotomy is the most sensitive diagnostic modality in
evaluating a patient with a high suspicion of having a small bowel neoplasm. Exploration
should be considered for a patient with occult GI bleeding, unexplained weight loss, or
vague abdominal pain and an otherwise unrevealing diagnostic evaluation. Laparoscopy
may also be useful for establishing the diagnosis of malignancy when the workup is
otherwise negative and for obtaining adequate tissue samples if a diagnosis of lymphoma
is suspected.
Adenocarcinoma The most commonly used staging system for small bowel
adenocarcinomas is the TNM system of the American Joint Committee on Cancer (AJCC,
show table 3) [40] . This schema does not apply to carcinoid tumors, lymphomas, or
sarcomas.
Lymphoma The Ann Arbor staging system developed in 1971 for Hodgkin's disease
(HD) was adapted for staging non-Hodgkin's lymphomas (NHLs). This staging system
focuses on the number of tumor sites (nodal and extranodal), location, and the presence or
absence of systemic ("B") symptoms (show table 4). The staging system used for
lymphoma and the diagnostic/staging tests that are recommended for the evaluation of a
patient with a non-Hodgkin lymphoma are discussed in detail elsewhere. (See "Staging and
prognosis of non-Hodgkin lymphoma").
SUMMARY A variety of tumors, both malignant and benign, may arise within the small
intestine. Malignant tumors include adenocarcinomas, carcinoids, stromal tumors
(gastrointestinal stromal tumors [GISTs] and non-GIST soft tissue sarcomas), and
lymphomas. Benign lesions that may arise in the small bowel include adenomas,
leiomyomas, fibromas, and lipomas.
The diagnosis of a small bowel tumor is often made late in the course of the disease,
because these are generally rare conditions, and the symptoms are nonspecific (abdominal
pain, weight loss, nausea and vomiting, occult GI tract bleeding). Early diagnosis requires a
high index of suspicion. (See "Epidemiology, clinical features, and types of small bowel
neoplasms", section on Clinical presentation).
There is no single method that is best for imaging of the small intestine in a patient with a
suspected small bowel tumor. The choices are radiographic (CT scan, small bowel series,
enteroclysis) or endoscopic (upper endoscopy, wireless video capsule endoscopy, push
enteroscopy, double-balloon endoscopy). The best testing strategy and sequence of
diagnostic tests are not established, and there is debate as to how much diagnostic workup
is adequate to exclude a small bowel tumor. (See "Diagnostic evaluation" above and see
"Evaluation of obscure gastrointestinal bleeding").
There are no tumor markers that are sufficiently sensitive or specific for the diagnosis of
any small bowel tumor. (See "Tumor markers" above).
The presence of carcinoid syndrome should be considered when the patient has
suggestive symptoms such as otherwise unexplained diarrhea or flushing. In such cases,
additional diagnostic testing may include biochemical tests of urine and/or serum to detect
elevated levels of bioactive amines and other substances such as chromogranin A and
Octreotide scanning. (See "Clinical features of the carcinoid syndrome" and see
"Diagnostic testing for carcinoid" above).
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