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- •Contents
- •Editors and Contributors
- •Editor in Chief
- •Compile Secretary
- •Review Experts
- •Case Providers
- •1.1.2.2 Physical Examination
- •1.1.2.3 Auxiliary Examination
- •1.1.3 Therapy
- •1.1.3.1 Case Analysis
- •1.1.3.2 Treatment
- •1.1.4 Prognosis
- •1.2.1 Introduction
- •1.2.2 Case Background
- •1.2.2.2 Physical Examination
- •1.2.2.3 Auxiliary Examination
- •1.2.3 Therapy
- •1.2.3.1 Case Analysis
- •1.2.3.2 Treatment
- •1.2.4 Prognosis
- •1.3 Expert Comments
- •References
- •2.1.1 Introduction
- •2.1.2 Case Background
- •Translators
- •1.1.1 Introduction
- •1.1.2 Case Background
- •2.1.2.2 Physical Examination
- •2.1.2.3 Auxiliary Examination
- •2.1.3 Therapy
- •2.1.3.1 Case Analysis
- •2.1.3.2 Treatment
- •2.1.4 Prognosis
- •2.2.1 Case Background
- •2.2.1.2 Physical Examination
- •2.2.1.3 Auxiliary Examination
- •2.2.2 Therapy
- •2.2.2.1 Case Analysis
- •2.2.2.2 Treatment
- •2.2.3 Prognosis
- •2.3 Expert Comments
- •References
- •3.1.1 Introduction
- •3.1.2 Case Background
- •3.1.2.2 Physical Examination
- •3.1.2.3 Auxiliary Examination
- •3.1.3 Therapy
- •3.1.3.1 Case Analysis
- •3.1.3.2 Treatment
- •3.1.4 Prognosis
- •3.2 Expert Comments
- •References
- •4.1.1 Introduction
- •4.1.2 Case Background
- •4.1.2.2 Physical Examination
- •4.1.2.3 Auxiliary Examination
- •4.1.2.4 Primary Diagnosis
- •4.1.3 Therapy
- •4.1.3.1 Case Analysis
- •4.1.3.2 Treatment
- •4.1.4 Prognosis
- •4.2.1 Introduction
- •4.2.2 Case Background
- •4.2.2.2 Physical Examination
- •4.2.2.3 Auxiliary Examination
- •4.2.2.4 Primary Diagnosis
- •4.2.3 Therapy
- •4.2.3.1 Case Analysis
- •4.2.3.2 Treatment
- •4.2.4 Prognosis
- •4.3 Expert Comments
- •References
- •5.1.1 Introduction
- •5.1.2 Case Background
- •5.1.2.2 Physical Examination
- •5.1.2.3 Auxiliary Examination
- •5.1.3 Therapy
- •5.1.3.1 Case Analysis
- •5.1.3.2 Treatment
- •7.1.1 Introduction
- •7.1.2 Case Background
- •7.1.2.2 Physical Examination
- •5.1.4 Prognosis
- •5.2.1 Case Background
- •5.2.1.2 Physical Examination
- •5.2.1.3 Auxiliary Examination
- •5.2.2 Therapy
- •5.2.2.1 Case Analysis
- •5.2.2.2 Treatment
- •5.2.3 Prognosis
- •5.3 Expert Comments
- •References
- •6.1.1 Introduction
- •6.1.2 Case Background
- •6.1.2.2 Physical Examination
- •6.1.2.3 Auxiliary Examination
- •6.1.3 Therapy
- •6.1.3.1 Case Analysis
- •6.1.3.2 Treatment
- •6.1.4 Prognosis
- •6.2 Expert Comments
- •References
- •7.1.2.3 Auxiliary Examination
- •7.1.2.4 Primary Diagnosis
- •7.1.3 Therapy
- •7.1.3.1 Case Analysis
- •7.1.3.2 Treatment
- •7.1.4 Prognosis
- •7.2 Expert Comments
- •References
- •8.1.1 Introduction
- •8.1.2 Case Background
- •8.1.2.2 Physical Examination
- •8.1.2.3 Auxiliary Examination
- •8.1.2.4 Preliminary Diagnosis
- •8.1.3 Therapy
- •8.1.3.1 Case Analysis
- •8.1.3.2 Therapy
- •8.1.4 Prognosis
- •8.1.5.2 Close Assessment Is Key during Preoperative Therapy
- •8.2 Expert Comments
- •References
- •9.1.1 Introduction
- •9.1.2 Case Background
- •9.1.2.2 Physical Examination
- •9.1.2.3 Auxiliary Inspection
- •9.1.3 Therapy
- •9.1.3.1 Case Analysis
- •9.1.3.2 Treatment
- •9.1.3.4 Prognosis
- •9.2 Expert Comments
- •References
- •10: Small Hypermitotic Gastrointestinal Stromal Tumors
- •10.1.1 Introduction
- •10.1.2 Case Background
- •10.1.2.2 Physical Examination
- •10.1.2.3 Auxiliary Examination
- •10.1.3 Therapy
- •10.1.3.1 Case Analysis
- •10.1.3.2 Treatment
- •10.1.4 Prognosis
- •10.2 Expert Comments
- •References
- •11: Mitotic Extremely High Gastrointestinal Stromal Tumors
- •11.1.1 Introduction
- •11.1.2 Case Background
- •11.1.2.2 Physical Examination
- •11.1.2.3 Auxiliary Examination
- •11.1.2.4 Primary Diagnosis
- •11.1.3 Therapy
- •11.1.3.1 Case Analysis
- •11.1.3.2 Treatment
- •11.1.4 Prognosis
- •11.2 Expert Comments
- •References
- •12: Neurofibromatosis Type 1 Associated Gastrointestinal Stromal Tumors
- •12.1.1 Introduction
- •12.1.2 Case Background
- •12.1.2.2 Physical Examination
- •12.1.2.3 Auxiliary Examination
- •12.1.2.4 Preliminary Diagnosis
- •12.1.3 Therapy
- •12.1.3.1 Case Analysis
- •12.1.3.2 Treatment
- •12.1.4 Prognosis
- •12.2.1 Case Background
- •12.2.1.2 Physical Examination
- •12.2.1.3 Auxiliary Examination
- •12.2.1.4 Preliminary Diagnosis
- •12.2.2 Therapy
- •12.2.2.1 Case Analysis
- •12.2.2.2 Treatment
- •12.2.3 Prognosis
- •12.3 Expert Comments
- •References
- •13: Succinate Dehydrogenase Deficient GIST
- •13.1.1 Introduction
- •13.1.2 Case Background
- •13.1.2.2 Physical Examination
- •13.1.2.3 Auxiliary Examination
- •13.1.2.4 Preliminary Diagnosis
- •13.1.3 Therapy
- •13.1.3.1 Case Analysis
- •13.1.3.2 Treatment
- •13.1.4 Prognosis
- •13.2.1 Case Background
- •13.2.1.2 Physical Examination
- •13.2.1.3 Auxiliary Examination
- •13.2.2 Primary Diagnosis
- •13.2.3 Therapy
- •13.2.3.1 Case Analysis
- •13.2.3.2 Treatment
- •13.2.4 Prognosis
- •13.3 Expert Comments
- •References
- •14.1.1 Introduction
- •14.1.2 Case Background
- •14.1.2.2 Physical Examination
- •14.1.2.3 Auxiliary Examination
- •14.1.3 Primary Diagnosis
- •14.1.4 Therapy
- •14.1.4.1 Case Analysis
- •14.1.4.2 Treatment
- •14.1.5 Prognosis
- •14.2 Expert Comments
- •References
- •15.1.1 Introduction
- •15.1.2 Case Background
- •15.1.2.2 Physical Examination
- •15.1.2.3 Auxiliary Examination
- •15.1.2.4 Preliminary Diagnosis
- •15.1.3 Therapy
- •15.1.3.1 Case Analysis
- •15.1.3.2 Treatment
- •15.1.4 Prognosis
- •15.2 Expert Comments
- •References
- •16: Multiple Gastrointestinal Stromal Tumors
- •16.1.1 Introduction
- •16.1.2 Case Background
- •16.1.2.2 Physical Examination
- •16.1.2.3 Auxiliary Examination
- •16.1.2.4 Preliminary Diagnosis
- •16.1.3 Therapy
- •16.1.3.1 Case Analysis
- •16.1.3.2 Treatment
- •16.1.4 Prognosis
- •16.2.1 Case Background
- •16.2.1.2 Physical Examination
- •16.2.1.3 Auxiliary Examination
- •16.2.1.4 Preliminary Diagnosis
- •16.2.2 Therapy
- •16.2.2.1 Case Analysis
- •16.2.2.2 Treatment
- •16.2.3 Prognosis
- •16.3 Expert Comments
- •References
- •17: Hereditary Gastrointestinal Stromal Tumors
- •17.1.1 Introduction
- •17.1.2 Case Background
- •17.1.2.2 Physical Examination
- •17.1.2.3 Auxiliary Examination
- •17.1.2.4 Preliminary Diagnosis
- •17.1.3 Therapy
- •17.1.3.1 Case Analysis
- •17.1.3.2 Treatment
- •17.1.4 Prognosis
- •17.2 Expert Comments
- •References
- •18.1.1 Introduction
- •18.1.2 Case Background
- •18.1.2.2 Physical Examination
- •18.1.2.3 Auxiliary Examination
- •18.1.2.4 Preliminary Diagnosis
- •18.1.3 Therapy
- •18.1.3.1 Case Analysis
- •18.1.3.2 Treatment
- •18.1.3.3 Postoperative Pathology
- •18.1.4 Prognosis
- •18.1.5.3 Adjuvant Therapy
- •18.2 Expert Comments
- •References
- •19.1.1 Introduction
- •19.1.2 Case Background
- •19.1.2.2 Physical Examination
- •19.1.2.3 Preliminary Diagnosis
- •19.1.3 Therapy
- •19.1.3.1 Case Analysis
- •19.1.3.2 Treatment
- •19.1.4 Prognosis
- •19.2 Expert Comments
- •References
- •20: Gastrointestinal Stromal Tumors Progression During Adjuvant Therapy
- •20.1.1 Introduction
- •20.1.2 Case Background
- •20.1.2.2 Physical Examination
- •20.1.2.3 Auxiliary Examination
- •20.1.2.4 Preliminary Diagnosis
- •20.1.3 Therapy
- •20.1.3.1 Case Analysis
- •20.1.3.2 Treatment
- •20.1.4 Prognosis
- •20.2 Expert Comments
- •References
- •21: Gastrointestinal Stromal Tumors Recurrence After Stopping Adjuvant Therapy
- •21.1.1 Introduction
- •21.1.2 Case Background
- •21.1.2.2 Physical Examination
- •21.1.2.3 Auxiliary Examination
- •21.1.2.4 Preliminary Diagnosis
- •21.1.3 Therapy
- •21.1.3.1 Case Analysis
- •21.1.3.2 Treatment
- •21.1.3.3 Postoperative Pathology
- •21.1.4 Prognosis
- •21.2 Expert Comments
- •References
- •22: Low Risk Rectal Gastrointestinal Stromal Tumors Recurrence 12 Years After Surgery
- •22.1.1 Introduction
- •22.1.2 Case Background
- •22.1.2.2 Physical Examination
- •22.1.2.3 Auxiliary Examination
- •22.1.2.4 Preliminary Diagnosis
- •22.1.3 Therapy
- •22.1.3.1 Case Analysis
- •22.1.3.2 Treatment
- •22.1.3.3 Postoperative Pathology
- •22.1.4 Prognosis
- •22.2 Expert Comments
- •References
- •23.1.1 Introduction
- •23.1.2 Case Background
- •23.1.2.2 Physical Examination
- •23.1.2.3 Auxiliary Examination
- •23.1.2.4 Preliminary Diagnosis
- •23.1.3 Therapy
- •23.1.3.1 Case Analysis
- •23.1.3.2 Treatment
- •23.1.4 Prognosis
- •23.2.1 Case Background
- •23.2.1.2 Physical Examination
- •23.2.1.3 Auxiliary Examination
- •23.2.1.4 Preliminary Diagnosis
- •23.2.2 Therapy
- •23.2.2.1 Case Analysis
- •23.2.2.2 Treatment
- •September 2010
- •November 2013
- •December 2015
- •23.2.3 Prognosis
- •23.3 Expert Comments
- •References
- •24.1.1 Introduction
- •24.1.2 Case Background
- •24.1.2.2 Physical Examination
- •24.1.2.3 Preliminary Diagnosis
- •24.1.3 Therapy
- •24.1.3.1 Auxiliary Examination
- •24.1.3.2 Case Analysis
- •24.1.4 Prognosis
- •24.2 Case Review
- •References
- •25.1.1 Introduction
- •25.1.2 Case Background
- •25.1.2.2 Physical Examination
- •25.1.2.3 Auxiliary Examination
- •25.1.2.4 Preliminary Diagnosis
- •25.1.3 Therapy
- •25.1.3.1 Case Analysis
- •25.1.3.2 Treatment
- •25.1.4 Prognosis
- •25.2 Expert Comments
- •25.3.1 Introduction
- •25.3.2 Case Background
- •25.3.2.2 Physical Examination
- •25.3.2.3 Preliminary Diagnosis
- •25.3.3 Therapy
- •25.3.3.1 Case Analysis
- •25.3.3.2 Treatment
- •25.3.4 Prognosis
- •25.4.1 Case Background
- •25.4.1.2 Physical Examination
- •25.4.1.3 Auxiliary Examination
- •25.4.2 Therapy
- •25.4.2.1 Case Analysis
- •25.4.2.2 Treatment
- •25.4.3 Prognosis
- •25.5 Expert Comments
- •References
- •26.1.1 Introduction
- •26.1.2 Case Background
- •26.1.2.2 Physical Examination
- •26.1.2.3 Auxiliary Examination
- •26.1.2.4 Preliminary Diagnosis
- •26.1.3 Therapy
- •26.1.3.1 Case Analysis
- •26.1.3.2 Treatment
- •26.1.4 Prognosis
- •26.2 Expert Comments
- •References
- •27.1.1 Introduction
- •27.1.2 Case Background
- •27.1.2.2 Physical Examination
- •27.1.2.3 Auxiliary Examination
- •27.1.2.4 Preliminary Diagnosis
- •27.1.3 Therapy
- •27.1.3.1 Case Analysis
- •27.1.3.2 Treatment
- •27.1.4 Prognosis
- •27.2 Expert Comments
- •References
- •28.1.1 Introduction
- •28.1.2 Case Background
- •28.1.2.2 Physical Examination
- •28.1.2.3 Auxiliary Examination
- •28.1.2.4 Preliminary Diagnosis
- •28.1.3 Therapy
- •28.1.3.1 Case Analysis
- •28.1.3.2 Treatment
- •28.1.3.3 Postoperative Pathology
- •28.1.4 Prognosis
- •28.2 Expert Comments
- •References
- •29.1.1 Introduction
- •29.1.2 Case Background
- •29.1.2.2 Physical Examination
- •29.1.2.3 Auxiliary Examination
- •29.1.2.4 Preliminary Diagnosis
- •29.1.3 Therapy
- •29.1.3.1 Case Analysis
- •29.1.3.2 Treatment
- •29.1.4 Prognosis
- •29.2 Expert Comments
- •References
- •30.1.1 Introduction
- •30.1.2 Case Background
- •30.1.2.2 Physical Examination
- •30.1.2.3 Auxiliary Examination
- •30.1.3 Therapy
- •30.1.3.1 Case Analysis
- •30.1.3.2 Treatment
- •30.1.4 Prognosis
- •30.2 Expert Comments
- •References
- •31.1.1 Introduction
- •31.1.2 Case Background
- •31.1.2.2 Physical Examination
- •31.1.2.3 Auxiliary Examination
- •31.1.2.4 Preliminary Diagnosis
- •31.1.3 Therapy
- •31.1.3.1 Case Analysis
- •31.1.3.2 Treatment
- •31.1.4 Prognosis
- •31.2 Expert Comments
- •References
- •32.1.1 Introduction
- •32.1.2 Case Background
- •32.1.2.2 Physical Examination
- •32.1.2.3 Auxiliary Examination
- •32.1.2.4 Preliminary Diagnosis
- •32.1.3 Therapy
- •32.1.3.1 Case Analysis
- •32.1.3.2 Treatment
- •32.1.4 Prognosis
- •32.2 Expert Comments
- •References
- •33.1.1 Introduction
- •33.1.2 Case Background
- •33.1.2.2 Physical Examination
- •33.1.2.3 Auxiliary Examination
- •33.1.2.4 Preliminary Diagnosis
- •33.1.3 Therapy
- •33.1.3.1 Case Analysis
- •33.1.3.2 Therapy
- •33.1.4 Prognosis
- •33.2.1 Case Background
- •33.2.1.2 Physical Examination
- •33.2.1.3 Auxiliary Examination
- •33.2.1.4 Preliminary Diagnosis
- •33.2.2 Therapy
- •33.2.2.1 Case Analysis
- •33.2.2.2 Treatment
- •33.2.3 Prognosis
- •33.3.1 Case Background
- •33.3.1.2 Physical Examination
- •33.3.1.3 Auxiliary Examination
- •33.3.1.4 Primary Diagnosis
- •33.3.2 Therapy
- •33.3.2.1 Case Analysis
- •33.3.2.2 Treatment
- •33.3.2.3 Postoperative Pathology
- •33.3.3 Prognosis
- •33.3.4.4 Rhabdomyosarcoma
- •33.4 Expert Comments
- •References

31 Small Intestine Gastrointestinal Stromal Tumor Misdiagnosed asGynecological Tumor
Fig. 31.2 Recurrence after 17months of adjuvant treatment
211
Fig. 31.3 Recurrence after the second surgery
tion. There was no ascites in the abdominal cavity, and no
metastatic nodules in the pelvic cavity or peritoneum were
seen. The tumor was located at the root of the mesentery with
a diameter of about 10cm and was mixed with cysts and solid
masses. The peritoneum at the root of the mesentery where
the mass was located was separated, and part of the peritoneum was removed to completely free the tumor. The tumor
was removed, and the exploration continued. There were
three additional localized nodules of different sizes, which
were removed individually. Postoperative pathology indicated small intestinal GIST, and genetic testing showed exon
11 and 13 mutations of KIT, of which the exon 13 mutation
was V654A.The patient continued to take imatinib 400mg/d
after surgery. The tumor recurred locally 3 months later
(Fig. 31.3), and the patient was commenced on sunitinib
37.5mg/d. The tumor shrank subsequently and the patient is
still under close follow-up (Fig.31.4).
Fig. 31.4 Reexamination of CT 3 months of sunitinib therapy

212
L. Tu et al.
31.1.5 Experience ofDiagnosis andTherapy
This case was initially misdiagnosed as a gynecological
tumor. Due to the limitations of CT and ultrasound, it is
often difcult to determine the source of pelvic tumors [1].
Small bowel GIST are often misdiagnosed as ovarian masses
or uterine broids. Due to different principles of surgery for
gynecological uterine broids and surgical GIST, the gynecologist opened the abdomen for exploration and removed
gynecological uterine broids while protecting the intestinal tract from damage as much as possible. However, most
small intestinal GIST invade the entire layer of the small
intestine; therefore, it is difcult to ensure that the tumor
does not rupture and is completely removed while ensuring
that the small intestine is not damaged. In this case, the
tumor was rst treated as a gynecological tumor and was
removed. The pathological results indicated small intestine
GIST, and intestinal resection was performed, which greatly
affected the patient’s prognosis. Therefore, if the pelvic
mass was suspected of intestinal origins during the gynecological surgery, operation should be performed by gastrointestinal surgeons to remove both the mass and adjacent
intestinal segments, which is better to avoid iatrogenic
tumor rupture.
The preoperative CT scan showed a pelvic mass, which
was large and lobulated, and which would be difcult to
remove surgically. In such cases, a puncture biopsy can be
conducted to obtain a clear pathological diagnosis before surgery. For GIST, preoperative target therapy can be administered, and tumor resection, including removal of the diseased
intestinal segment, can be performed after the tumor has
shrunk [2, 3]. Unfortunately, the correct diagnosis was not
made for this patient before operation and the difculty of the
operation was incorrectly estimated, which also reminds us of
the importance of MDT discussions. For patients with giant
pelvic masses, MDT discussions, including clinicians from
general surgery, urology, obstetrics and gynecology, oncology, radiology, and endoscopy disciplines, should be organized before surgery to develop individualized treatment
plans and ensure that patients receive the best treatment.
After 17 months of taking imatinib, the patient had
tumor recurrence, indicating secondary resistance of imatinib. Most cases of secondary resistance are caused by secondary genetic mutations [4]. Genetic testing of the second
resected tumor showed exon 11 and 13 mutations of KIT,
and the mutation of exon 13 was V654A, which is reported
to result in drug-resistance [5]. The second-line drug should
be taken as soon as possible according to the 2017 expert
consensus. However, because the patient refused to use
second-line treatment after the second operation, the tumor
recurred rapidly after resection, which prompted the guiding role of genetic testing for the subsequent treatment of
patients with secondary resistance. We should choose rea-
sonable medications based on the results of genetic testing,
so as to better improve the patients’ relapse-free and overall
survival times [6].
31.2 Expert Comments
JinboGao
Large GIST and those that originate from the lower small
intestine often fall into the pelvic cavity and adhere to the
uterus or accessories. The symptoms and examination results
are often similar to gynecological diseases, and are easily
confused with some ovarian and uterine tumors, resulting in
misdiagnosis. In this case, a mass approximately 12cm in
size could be felt in the region of the right appendix.
Gynecological ultrasaound suggested a space occupying
lesion in the right pelvic cavity, which was very easy to misdiagnose as a gynecological tumor. Therefore, GIST should
be considered in the differential diagnosis of pelvic masses.
If necessary, multiple ultrasound combined with CT and
enteroscopy should be performed to clarify the nature of a
pelvic mass and improve the preoperative diagnosis rate, so
as to avoid misdiagnosis and miss the best treatment opportunity [7].
The retrospective data of our center showed that among
the 38 GIST misdiagnosed as gynecological tumors in the
past 13years, 33 cases originated from the jejunum. They
were all high-risk according to the modied NIH risk classication after operation. The 5-year disease-free survival
rate and specic survival rate were 37.0% and 48.3%, respectively, which were signicantly lower than other high-risk
female GIST groups, suggesting that the malignant degree of
such GIST was higher than that of ordinary high-risk female
GIST.Therefore, appropriately prolonging the postoperative
adjuvant treatment time of imatinib in this group of patients
may be benecial to their prognosis [8].
References
1. Boyle W, Phillips A, Vella J, Williams A, Ganesan R.Gastrointestinal
stromal tumors (GISTs) as incidental ndings in gynecologi-
cal surgery. Int J Gynecol Pathol. 2022;41(2):186–90. https://doi.
org/10.1097/PGP.0000000000000787.
2. Joensuu H, DeMatteo RP. The management of gastrointestinal
stromal tumors: a model for targeted and multidisciplinary ther-
apy of malignancy. Annu Rev Med. 2012;63:247–58. https://doi.
org/10.1146/annurev- med- 043010- 091813.
3. von Mehren M, Joensuu H. Gastrointestinal stromal tumors.
J Clin Oncol. 2018;36(2):136–43. https://doi.org/10.1200/
JCO.2017.74.9705.
4. Hemming ML, Heinrich MC, Bauer S, George S. Translational
insights into gastrointestinal stromal tumor and current clini-
cal advances. Ann Oncol. 2018;29(10):2037–45. https://doi.
org/10.1093/annonc/mdy309.

31 Small Intestine Gastrointestinal Stromal Tumor Misdiagnosed asGynecological Tumor
213
5. Gounder MM, Maki RG.Molecular basis for primary and secondary tyrosine kinase inhibitor resistance in gastrointestinal stromal
tumor. Cancer Chemother Pharmacol. 2011;67:S25–43. https://doi.
org/10.1007/s00280- 010- 1526- 3.
6. Li J, Ye Y, Wang J, Zhang B, Qin S, Shi Y, He Y, Liang X, Liu X,
Zhou Y, Wu X, Zhang X, Wang M, Gao Z, Lin T, Cao H, Shen L,
Chinese Society of Clinical Oncology Csco Expert Committee
on Gastrointestinal Stromal Tumor. Chinese consensus guidelines
for diagnosis and management of gastrointestinal stromal tumor.
Chin J Cancer Res. 2017;29(4):281–93. https://doi.org/10.21147/j.
issn.1000- 9604.2017.04.01.
7. Liu Y, Shahi M, Miller K, Meyer CF, Hung CF, Wu TC, Vang
R, Xing D. Gastrointestinal stromal tumors mimicking gynecologic disease: clinicopathological analysis of 20 cases.
Diagnostics (Basel). 2022;12(7):1563. https://doi.org/10.3390/
diagnostics12071563.
8. Tao K, Zeng X, Liu W, Wang S, Gao J, Shuai X, Zhang P.Primary
gastrointestinal stromal tumor mimicking as gynecologic
mass: characteristics, management, and prognosis. J Surg Res.
2020;246:584–90. https://doi.org/10.1016/j.jss.2019.09.043.

Castleman Disease Misdiagnosed
asGastrointestinal Stromal Tumor
ChenHuang, ChunZhuang, andYulongHe
32
Keywords
Gastrointestinal stromal tumor · Castleman disease ·
Misdiagnosis
32.1 Case 42 A29-Year-Old Woman
withCastleman Disease
Misdiagnosed asSmall Intestinal GIST
ChenHuang and ChunZhuang
32.1.1 Introduction
GIST can occur at any age, but is more commonly found in
middle-aged and elderly over 50years of age, with no difference in the incidence between men and women. Additionally,
GIST can occur anywhere in the gastrointestinal tract from
the esophagus to the rectum. Some cases are found outside
the GI tract, mainly in the omentum, mesentery and retroperitoneum, and have also been reported in the spleen, bladder, urethra and perineum. It is easy to misdiagnose GIST
because of the variable sites of occurrence and the variety of
imaging features. Surgeons should improve their knowledge
of various rare diseases, consider the possibility of various
diseases in their clinical work, and improve the accuracy of
diagnosis through MDT discussion when necessary [1].
C.Huang · C.Zhuang (*)
Department of Gastrointestinal Surgery, Renji Hospital, Shanghai
Jiaotong University School of Medicine, Shanghai, China
Y.He
Digestive Diseases Center, The Seventh Afliated Hospital of Sun
Yat⁃sen University, Shenzhen, China
e-mail: heyulong@mail.sysu.edu.cn
32.1.2 Case Background
The patient, a 29-year-old woman, was admitted to the
hospital in August 2017 for abdominal pain and bloating,
with exhaustion and decreased defecation frequency. A CT
scan of upper and lower abdomen showed a left midabdominal mass considered to be possible
GIST.Gynecological ultrasound results showed no signicant abnormalities. The patient came to hospital for further
treatment and was admitted with an abdominal spaceoccupying lesion, possibly GIST.
32.1.2.1 Past History andFamily History
The patient was previously healthy and reported no history
of drug allergies. The patient’s parents were alive, and there
was no history of similar disease in the family.
32.1.2.2 Physical Examination
The patient’s vital signs were stable, and the skin mucosa
was not yellowish or pale. The abdomen was at, and no
gastrointestinal pattern or peristaltic waves were observed.
The abdomen was slightly elevated, with mild tenderness, no
rebound tenderness, and no muscle tension. A 5cm diameter
mass on the left side of the abdomen could be palpated, with
medium rmness and moderate mobility. The bowel sounds
were normal.
32.1.2.3 Auxiliary Examination
Enhanced Abdominal CT A left mid-abdominal mass was
observed, 6.0cm×5.3cm in size, considered to be possible
GIST.Partial small bowel pneumatization and uid accumulation, colon pneumatization, and stool accumulation were
also observed (Fig.32.1).
© People’s Medical Publishing House, PR of China 2024
K. Tao, H. Cao (eds.), Clinical Management of Gastrointestinal Stromal Tumor, https://doi.org/10.1007/978-981-99-9392-5_32
215

216
C. Huang et al.
32.1.2.4 Preliminary Diagnosis
Abdominal space-occupying lesions, possible GIST.
32.1.3 Therapy
32.1.3.1 Case Analysis
The patient was a young woman who presented with abdominal pain and distension for 4days and CT revealed a possible abdominal GIST. The patient’s general condition was
good, and the tumor was evaluated to be resectable without
metastasis. It was determined that surgical treatment should
be performed, and postoperative treatment should be guided
according to pathology and genetic test results.
32.1.3.2 Treatment
Laparoscopic resection of small bowel mesenteric tumor
was performed under general anesthesia on August 21,
2017. Intraoperative ndings revealed a 5 cm diameter
spherical mass in the small intestine mesentery 30cm below
the exor ligament with clear borders and medium texture.
The intestinal wall was not involved, but the tumor was
close to the small intestinal mesenteric margin, and the
superior mesenteric arteriovenous trunk. Several abnor-
mally large trophoblastic vessels could be seen on the surface of the tumor and several enlarged lymph nodes could
be seen in the mesenteric root. No metastases were found in
the liver, pelvis, or peritoneum, and no abnormalities were
found in the uterus or bilateral adnexa. The uterus and bilateral adnexa did not show any abnormal occupancy
(Figs.32.2 and 32.3).
32.1.3.3 Postoperative Pathology andGenetic
Testing
Pathological Diagnosis Small intestinal mesenteric
Castleman disease (CD) proliferating cells.
Immunohistochemistry CD20 (+/−), CD79a (+/−), CD3
(+/−), CD5 (−), CD21 (dendritic cells, +), CD23 (dendritic
cells, +), Bcl-2 (+), Bcl-6 (−), CyclinD1 (−), Ki-67 (Li:
30%), κ (+/−), λ (+/−), CD138 (+/−).
32.1.4 Prognosis
The patient was followed up regularly after surgery, and as of
December 2021, no recurrence of metastasis was seen on CT
review.
Fig. 32.1 CT showed a left mid-abdomen space-occupying lesion

32 Castleman Disease Misdiagnosed asGastrointestinal Stromal Tumor
217
Fig. 32.2 Intraoperative laparoscopic exploration
Fig. 32.3 The gross specimen
32.1.5 Experience ofDiagnosis andTherapy
CD is a reactive lymphadenopathy of unknown origin and is
relatively uncommon in clinical practice. The pathology is
characterized by distinct lymphatic follicles, vascular and
plasma cell hyperplasia of varying degrees, and signicant
enlargement of deep or supercial lymph nodes. Some cases
of CD may be associated with systemic symptoms. In most
cases, the results are good after surgical removal of the
enlarged lymph nodes, and CD is clinically classied into
focal and multicentric types [2].
1. Unicentric CD
The median age of onset is 20years old. It can occur in any
part of the lymphatic tissue, but mediastinal lymph nodes are
the most common location, followed by cervical, axillary,
and abdominal lymph nodes, and occasionally extra- nodal
tissues, such as the larynx, vulva, pericardium, intracranial
subcutaneous muscle, lung, and orbits. Most cases have no
systemic symptoms, and masses can exist within the body
for a long time, that is, they have a benign disease course.
2. Multicentric CD
Multicentric type CD is less common than the focal type, and
the median age of onset is 57years. Patients have enlarged
lymph nodes in multiple locations and are prone to supercial lymph nodes. Multicentric type CD is associated with
systemic symptoms (such as fever) and hepatosplenomegaly,
and often manifests with multisystem involvement, such as
nephrotic syndrome, amyloidosis, myasthenia gravis, peripheral neuropathy, temporal arteritis, Schegren’s syndrome
(dry syndrome), thrombotic thrombocytopenic purpura, and
oral and corneal inammatory reactions. Twenty to thirty
percent of patients may develop Kaposi’s sarcoma or B-cell
lymphoma during the course of the disease. A few patients
with concurrent polyneuropathy, organ enlargement (liver,
spleen), endocrinopathy, serum monoclonal immunoglobulin, and skin lesions will constitute clinical signs of POEMS

218
C. Huang et al.
syndrome (polyneuropathy, organomegaly, endocrinopathy,
M-protein, skin changes). In addition, the multicentric type
often has an aggressive clinical course and is prone to concomitant infections [2–5].
Abdominal CD needs to be differentiated from a number
of other tumors rich in blood supply, including GIST, paraganglioma, and nerve sheath tumors. GIST mostly originates from the gastrointestinal tract and show signicant
enhancement on enhanced CT.Paragangliomas are usually
found in the para-aortic region of the sympathetic chain and
exhibit moderate or signicant enhancement on enhanced
CT.Nerve sheath tumors are usually found in the retroperitoneal paraspinal sulcus and typically penetrate the intervertebral foramen with a dumbbell-like appearance. Cystic
changes are more common, but calcication and hemorrhage are rare and can be signicantly enhanced on
enhanced CT; however, the degree of enhancement is lower
than that of clear vascular CD.
The reason for the misdiagnosis in this case is the lack of
awareness of rare diseases, and the rst subjective preference
for the most common disorder, GIST, after CT ndings of
interstitial lobar-derived masses, while ignoring some of the
features that were not consistent with GIST in this case, such as
age of onset, which was not consistent with GIST as this generally occurs in middle-aged and elderly; and multiple lymph
node metastases, which rarely occur with GIST [2, 6–8].
32.2 Expert Comments
YulongHe
Castleman disease is a non-neoplastic lesion caused by
proliferation of lymphoid tissue, also known as vascular follicular hyperplasia. When a tumor is located in the abdomi-
nal or pelvic cavities, it needs to be differentiated from GIST,
lymphoma, and neurogenic tumors. In this case, preoperative
CT suggested GIST, but preoperative cytological examination by ne needle aspiration was not performed, leading to
misdiagnosis. The treatment of CD varies depending on the
type of CD.For focal CD, surgery is preferred, and the prognosis is favorable, while multicentric and plasma cell CD are
prone to recurrence and transformation into lymphoma,
which should be treated with a combination of surgical
resection and postoperative adjuvant chemotherapy.
References
1. Blay JY, Kang YK, Nishida T, von Mehren M. Gastrointestinal
stromal tumours. Nat Rev Dis Primers. 2021;7(1):22. https://doi.
org/10.1038/s41572- 021- 00254- 5.
2. Hoffmann C, Hentrich M, Tiemann M, Rosenwald A, Weber
F, Willenbacher W, Hubel K. Recent advances in Castleman
disease. Oncol Res Treat. 2022;45(11):693–704. https://doi.
org/10.1159/000526640.
3. Wu D, Lim MS, Jaffe ES.Pathology of Castleman disease. Hematol
Oncol Clin North Am. 2018;32(1):37–52. https://doi.org/10.1016/j.
hoc.2017.09.004.
4. Cronin DM, Warnke RA. Castleman disease: an update on
classication and the spectrum of associated lesions. Adv
Anat Pathol. 2009;16(4):236–46. https://doi.org/10.1097/
PAP.0b013e3181a9d4d3.
5. Wang XQ, Zhong NN, Sun Q, Yan SC, Xu GC, Wang YG, Peng LW,
Liu B, Bu LL.Comprehensive analysis of 65 patients with Castleman
disease in a single center in China. Sci Rep. 2022;12(1):8694.
https://doi.org/10.1038/s41598- 022- 12797- y.
6. Han SL, Chen XX, Zheng XF, Yan JY, Shen X, Zhu GB. The
clinicopathological behaviour and surgical treatment of abdominal
Castleman’s disease. Singapore Med J. 2010;51(10):813–6.
7. Abramson JS. Diagnosis and management of Castleman disease.
J Natl Compr Cancer Netw. 2019;17(11.5):1417–9. https://doi.
org/10.6004/jnccn.2019.5037.
8. Dispenzieri A, Fajgenbaum DC. Overview of Castleman disease. Blood. 2020;135(16):1353–64. https://doi.org/10.1182/
blood.2019000931.

Other Primary Malignant Tumors
Misdiagnosed asRecurrent
Gastrointestinal Stromal Tumor
BoNi, LinTu, ChenHuang, XinWu, WenchangYang,
WeizhenLiu, andHuiCao
33
Keywords
Abdominal mass · Recurrence · Gastrointestinal stromal
tumor · Fibromatosis · Rhabdomyosarcoma ·
Misdiagnose
33.1 Case 43 A53-Year-Old Man
withFibromatosis Misdiagnosed
asRecurrent GIST
BoNi and LinTu
33.1.1 Introduction
The diagnosis of GIST mainly relies on histopathology and
immunohistochemical staining [1, 2]. At present, the clinical
protocol of diagnosis for GIST has been increasingly
improved. However, it is common for GIST to be combined
with other kinds of tumors, which is a challenge for clinical
diagnosis and treatment [3, 4]. Especially for postoperative
patients, recurrence and metastasis from primary GIST are
difcult to distinguish from other tumors [5, 6]. These patients
deserve more attention from clinicians to avoid misdiagnosis
and mistreatment. Moreover, it is necessary to make full use
B.Ni · L.Tu (*) · C.Huang · H.Cao
Department of Gastrointestinal Surgery, Renji Hospital, Shanghai
Jiaotong University School of Medicine, Shanghai, China
X.Wu (*)
Department of General Surgery, The First Medical Center, Chinese
PLA General Hospital, Beijing, China
W.Yang · W.Liu (*)
Department of Gastrointestinal Surgery, Union Hospital, Tongji
Medical College, Huazhong University of Science and Technology,
Wuhan, China
e-mail: yangwenchang@hust.edu.cn; liuweizhen@hust.edu.cn
of the combined MDT individualized treatment modeling,
and devise an appropriate treatment and follow-up plan [7–9].
33.1.2 Case Background
In November 2015, the patient, a 53-year-old man, was diagnosed with fundic GIST by gastroscopy (Fig. 33.1) and
underwent laparoscopic local resection. Postoperative pathological examination diagnosed a gastric GIST,
5.2cm×4.3cm×3.0cm in size, mitotic count <5/50 HPF,
and intermediate risk according to modied NIH risk classication. Genetic testing showed a heterozygous deletion
mutation in exon 11 of KIT at codons 557–558, which
encoded tryptophan and lysine amino acids. Adjuvant therapy with 400mg/d imatinib was initiated 3weeks after the
operation. In May 2017, contrast-enhanced CT revealed possible postoperative changes in the stomach and an emerging
mass in the mesogastric region of right lower abdomen with
the possibility of metastases (Fig. 33.2). The patient then
came to Renji Hospital Afliated to Shanghai Jiaotong
University School of Medicine for further treatment and was
admitted with space-occupying lesions in the right lower
abdomen following resection of gastric GIST.
33.1.2.1 Past History andFamily History
The patient had a 10-year history of hypertension which was
well controlled with medication, a 1-year history of coronary
heart disease, and 50% stenosis in coronary angiography,
identied 1 year earlier, controlled by oral aspirin. The
patient reported no history of drug allergies or relevant family history.
33.1.2.2 Physical Examination
The patient had stable vital signs without any positive
abdominal signs.
© People’s Medical Publishing House, PR of China 2024
K. Tao, H. Cao (eds.), Clinical Management of Gastrointestinal Stromal Tumor, https://doi.org/10.1007/978-981-99-9392-5_33
219

220
Fig. 33.1 Endoscopic Ultrasonography indicated the possible diagnosis of GIST
B. Ni et al.
Fig. 33.3 Intraoperative exploration revealed an invasive tumor with a
diameter of 3cm at the mesentery of small intestine
2. Postoperative gastric GIST
3. Coronary heart disease
4. Hypertension grade 2, high-risk
Fig. 33.2 Re-examination of enhanced CT before the secondary
operation
33.1.2.3 Auxiliary Examination
Abdomen CT Postoperative changes of the stomach and an
emerging mass in the mesogastric region of right lower
abdomen with the possibility of GIST metastases.
33.1.2.4 Preliminary Diagnosis
1. Space-occupying lesions in abdominal cavity: possible
recurrence and metastasis of GIST
33.1.3 Therapy
33.1.3.1 Case Analysis
The patient was a middle-aged man and had received resection of gastric GIST.The abdominal CT scan indicated a new
mass possibly as recurrence. Considering this patient was
generally in good health and the new tumor was resectable, it
was determined that surgery should be performed. The postoperative targeted therapy should be scheduled based on the
results of pathological examination.
33.1.3.2 Therapy
On July 24, 2017, laparoscopic exploration and resection of
a small intestinal mesenteric tumor were performed under
general anesthesia. During the operation, no obvious new
mass was found at the resection site of the primary gastric
tumor, but a 3cm tumor was found in the mesentery of small
intestine 2m away from the ileocecal region. The tumor did
not invade the intestinal wall of the small intestine, and there
was not any relapse in the liver or peritoneum (Fig.33.3).
33.1.3.3 Postoperative Pathology andGenetic
Testing
Pathology The small intestinal mesenteric tumor was diag-
nosed as bromatosis-like hyperplasia (4.0cm× 3.5 cm×
2.0 cm, Fig. 33.4), with negative margin and negative
regional lymph node.

33 Other Primary Malignant Tumors Misdiagnosed asRecurrent Gastrointestinal Stromal Tumor
33.2.1 Case Background
The patient, a 69-year-old woman, was admitted to our gynecology department in July 2017 for presentation of a pelvic
mass with abdominal pain and distension for several months,
14years after GIST.A PET-CT showed a right pelvic hypermetabolic lesion, which was considered malignant, and multiple hypermetabolic nodes in the right clavicular area,
perihepatic and subperitoneal area, colonic splenic exure,
left parietal iliac vessels, and pelvic cavity, which were considered to have a high probability of being multiple metastatic lesions. Puncture biopsy of the pelvic mass revealed a
spindle cell tumor, and immunohistochemistry showed
CD117 (+), DOG-1 (+), CD34 (+), Ki-67 (Li: 15%), SMA
(−), S-100 (−) (Fig.33.5). Combined with the clinical history, the patient was considered to have multiple GIST
metastases and Imatinib 600mg/d was administered.
Fig. 33.4 The gross specimen
Immunohistochemistry β-catenin (+), SMA (+/−), CD117
(−), CD34 (−), DOG-1 (−), S-100 (−), Ki-67 (Li: <1%), P53
(+/−).
Genetic Testing Wild type KIT and PDGFRA.
Pathological Diagnosis Desmoid bromatosis
At the end of 2017, CT showed bilateral pleural effusion
and increased abdominal effusion, and symptomatic support
was given. In March 2018, she was treated in the emergency
department for anemia, (Hb 60g/L), and dyspnea, and CT
revealed irregular pelvic and presacral masses with uneven
density, consistent with GIST with necrosis and hemorrhage,
and large abdominopelvic effusion. The patient was given a
blood transfusion, drainage and symptomatic support and
other treatments for symptom relief and started oral sunitinib
37.5mg/d treatment. The patient was admitted to our hospital for further treatment in April 2018 when her abdominal
symptoms worsened, and she developed intermittent fever.
33.1.4 Prognosis
33.2.1.1 Past History andFamily History
The patient recovered smoothly and 400 mg/d imatinib
was scheduled on the 7th day after surgery. Follow-up in
December 2021 revealed no obvious tumor recurrence or
metastasis.
Partial gastrectomy with pancreatic body and tail resection
and splenectomy in August 2003 for gastric GIST. She
reported no history of drug allergies. The parents were
deceased, and there was no family history of similar
disease.
221
33.2 Case 44 A69-Year-Old Woman
withRhabdomyosarcoma
Misdiagnosed asRecurrent GIST
ChenHuang and XinWu
33.2.1.2 Physical Examination
The patient’s vital signs were stable, and she appeared anemic with visible emaciation and a lower abdominal bulge. A
palpable mass, approximately 15 cm in size, was noted to be
hard, with ill-dened borders, non-mobile, tender, without
rebound tenderness, and normal bowel sounds were present.
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