Immunoglobulin G4-related disease (IgG4-RD) is an immune-mediated fibro-inflammatory disorder characterized by specific pathological findings and elevated serum IgG4 level. IgG4-RD in the stomach is rare, and occasionally diagnosed as gastric subepithelial tumor (SET) by endoscopy or computed tomography scan. Two female patients in the age group of 40–50 years were diagnosed with 4 cm sized gastric SET. One underwent laparoscopic gastric wedge resection. Another one had a history of subtotal gastrectomy for early gastric cancer and idiopathic thrombocytopenic purpura with oral steroids administration. She underwent a completion total gastrectomy with splenectomy for the gastric SET and ITP. The pathology showed storiform fibrosis, and IgG4 was positive in immunohistochemistry (IHC) stain. IgG4-RD is known as a medical disease that could be treated with oral steroids. The difficulty in preoperative diagnosis of the disease occasionally causes unnecessary gastric resection. Thus, preoperative diagnostic methods for IgG4-RD such as deep biopsy with IHC stain or magnetic resonance imaging are needed.
Biopsy ; Diagnosis ; Endoscopy ; Female ; Fibrosis ; Gastrectomy ; Gastrointestinal Stromal Tumors* ; Humans ; Immunoglobulin G ; Immunoglobulins ; Immunohistochemistry ; Magnetic Resonance Imaging ; Pathology ; Purpura, Thrombocytopenic, Idiopathic ; Splenectomy ; Steroids ; Stomach Neoplasms ; Stomach*

Management of large-size retrorectal gastrointestinal stromal tumors (GISTs) is complex and challenging from diagnosis to treatment. This may create technical difficulties in surgical access and complete resection of the tumor. The abdominosacral resection has the benefit of improved visualization via the anterior incision, with enhanced exposure of the midrectal area, which makes resecting the tumor completely via the posterior approach easier. We report 2 cases of patients with a retrorectal GIST and neurofibromatosis type 1, one in a 27-year-old woman with a defecation complaint and the other in a 58-year-old woman with a defecation and urination complaint. Based on the anatomical pathology, both patients were diagnosed with a GIST. The tumors were excised via an abdominosacral resection. Retrorectal GISTs are rare, and abdominosacral resection allows complete resection of a large-size retrorectal GIST with low morbidity and an absence of functional impairment. The abdominosacral resection should be considered in certain situations.
Adult ; Defecation ; Diagnosis ; Disease Management ; Female ; Gastrointestinal Stromal Tumors ; Humans ; Middle Aged ; Neurofibromatosis 1 ; Pathology ; Rectal Neoplasms ; Urination

Primary malignant small bowel tumor as a rare kind of intestinal tumor is associated with a poor prognosis. The pathological types were various and complicated, such as adenocarcinoma, neuroendocrine tumor, malignant lymphoma, and malignant stromal tumor. The atypical early stage symptom resulted in difficult diagnosis at early stage, high misdiagnosis rate and lack of standard therapy schemes and means. In the past, X-ray, CT, MRI, and PET-CT were the main examination methods for primary small bowel tumor. However, with the development of radiology, a series of new diagnosis methods, including electronic enteroscopy, capsule endoscopy, multi-slice spiral CT enteroclysis and so on, promotes the diagnosis accurate rate. Surgery is still the most important method in the small bowel tumor treatment, and the alternative of the surgical method should depend on the tumor location, size and relationship with the adjacent organs. Application of the laparoscopic surgery for the small bowel tumor is still in the initial stage. Besides, some researches have confirmed that chemotherapy, radiotherapy, target therapy and endocrinotherapy have effects on the specific kind of small bowel tumor. Therefore this article will review the epidemiology, pathology, diagnosis and treatment of the primary malignant small bowel tumors.
Adenocarcinoma ; diagnosis ; epidemiology ; pathology ; therapy ; Capsule Endoscopy ; Gastrointestinal Stromal Tumors ; diagnosis ; epidemiology ; pathology ; therapy ; Humans ; Intestinal Neoplasms ; diagnosis ; epidemiology ; pathology ; therapy ; Intestine, Small ; diagnostic imaging ; pathology ; Laparoscopy ; methods ; Lymphoma ; diagnosis ; epidemiology ; pathology ; therapy ; Neuroendocrine Tumors ; diagnosis ; epidemiology ; pathology ; therapy ; Tomography, Spiral Computed

OBJECTIVETo elucidate the historic and current diagnosis and treatment status of gastrointestinal stromal tumor (GIST) in the Chinese population based on four high volume databases.

METHODSClinicopathological data of GIST patients with follow-up information between January 1998 and December 2015 from Sun Yat-sen University Cancer Center, Union Hospital of Huazhong University of Science and Technology, Southern Medical University Nanfang Hospital and Guangdong General Hospital were retrospectively analyzed. Kaplan-Meire method was used to draw survival curve. The accumulative survival rate was calculated by life table method. Comparison of survival rate among groups was examined by Log-rank test.

RESULTSA total of 2 610 cases were enrolled into the study, including 667(25.6%) cases from Sun Yat-sen University Cancer Center, 754(28.9%) cases from Union Hospital of Huazhong University of Science and Technology, 692(26.5%) cases from Southern Medical University Nanfang Hospital and 497 (19.0%) cases from Guangdong General Hospital. There were 1 394 male and 1 216 female cases with the ratio of 1.15 to 1.00. The age of patients was from 18 to 95 (median 58.0) years old. Three-year was used as a time stage, then 18 years were divided into 6 stages. New GIST patients increased gradually year by year. There were 13(0.5%) cases during 1998 to 2000, 68(2.6%) cases during 2001 to 2003, 256(9.8%) cases during 2004 to 2006, 517 (19.8%) cases during 2007 to 2009, 814(31.2%) cases during 2010 to 2012, and 942 (36.1%) cases during 2013 to 2015. Primary GIST sites were esophagus in 50(1.9%) cases, stomach in 1 686(64.6%) cases, duodenum in 206 (7.9%) cases, jejunum and ileum in 446 (17.1%) cases, colon and rectum in 133 (5.1%) cases, and non-gastrointestinal tract in 89 (3.4%) cases. GIST lesions of 2 404(92.1%) cases located in the primary sites and relapse/metastasis occurred in 206 cases when consulting. Among 206 relapse/metastasis cases, liver metastasis was found in 126 (61.2%) cases, abdominal cavity/pelvic cavity metastasis in 64 (31.1%) cases, liver plus abdominal cavity/pelvic cavity metastasis in 12 (5.8%) cases, and other site metastasis in 4 (1.9%) cases. Among all the patients, 352 received gene detection, including 1 (0.4%) during 2004 to 2006, 7 (1.4%) during 2007 to 2009, 150 (18.4%) during 2010 to 2012, and 194 (20.6%) during 2013 to 2015. Most of the primary oncogenic mutational site occurred in c-Kit, including 30 (8.5%) cases in exon 9, 242 (68.8%) cases in exon 11, 4 (1.1%) cases in exon 13, 2 (0.6%) cases in exon 17, while 3 (0.9%) cases in PDGFRA exon 12 and 20 (5.7%) cases in PDGFRA 18, besides, no mutations of KIT and PDGFRA were detected in 51 (14.5%) cases. A total of 2 202 cases underwent operation, including 2 038 (92.6%) of radical resection and 164 (7.4%) of palliative resection. Among 2 038 patients undergoing radical resection, 450 (22.1%) cases were very low risk, 593 (29.1%) cases were low risk, 283 (13.9%) cases were moderate risk and 712 (34.9%) cases were high risk according to NIH risk classification. Of 995 patients with moderate and high risk, 550(55.3%) cases received postoperative imatinib adjuvant therapy, whose ratio in above 6 time stages was as follows: 0, 42.8%(12/28), 19.8%(20/101), 9.8% (21/215), 65.7% (176/268) and 85.6% (321/375). Of 206 relapse/metastasis patients, 200 (97.1%) cases received imatinib as the first-line therapy, and 22 (10.7%) received sunitinib as the second-line therapy. A total of 1 743 patients had complete follow-up data and median follow-up time was 35.9 (0.1 to 173.8) months. The 5-year overall survival rates in very low, low, moderate and high risk patients were 100%, 97%, 95% and 78% respectively.

CONCLUSIONThis retrospective study provides the largest data of GIST and indicates the historic changes of clinicopathological characteristics, diagnosis and treatment of GIST for further domestic GIST research.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antineoplastic Agents ; therapeutic use ; China ; Combined Modality Therapy ; Exons ; Female ; Gastrointestinal Stromal Tumors ; diagnosis ; pathology ; therapy ; Humans ; Imatinib Mesylate ; therapeutic use ; Indoles ; therapeutic use ; Liver Neoplasms ; secondary ; Male ; Middle Aged ; Mutation ; Neoplasm Recurrence, Local ; Proto-Oncogene Proteins c-kit ; Pyrroles ; therapeutic use ; Retrospective Studies ; Survival Rate ; Young Adult

OBJECTIVETo investigate and analysis the clinical and pathological characteristic of gastrointestinal stromal tumor (GIST) patients, and to clarify the factors that effect on prognosis.

METHODSThe clinical and pathological features and follow-up of GIST patients who received surgery in Peking Union Medical College Hospital from May 2002 to December 2013 were analyzed retrospectively. The prognosis was evaluated by univariate and multivariate analysis. Kaplan-Meier unvariate analysis and Log-rank test were used to compare the survival rates. Multivariate factors for survival were analyzed by Cox proportional hazards regression model.

RESULTSA total of 558 GIST patients were collected, including 284 males and 272 females. The high incidence was in the elderly and age of 50 to 70 years. Most of the primary tumors are located in stomach (303 cases), followed by the small intestine (118 cases). Surgical procedures included R0 resection in 517 cases, R1 resection in 4 cases, R2 or palliative resection in 37 cases. The recurrence risk was very low in 102 cases, low in 156 cases, moderate in 67 cases and high in 233 cases. Of all the patients, 495 cases completed the follow-up, the follow-up rate was 88.7%. Five year survival rate was 87.4%. Patients who took targeted therapy with moderate and high risk of recurrence had a better prognosis compared with not taking the drug. Univariate analysis revealed that the factors impacting the prognosis were age, tumor size, tumor site and mitotic count. Multivariate analysis showed that tumor size (P=0.01, RR=1.562, 95% CI: 1.452 to 15.664), location (P=0.01, RR=1.552, 95% CI:1.324 to 12.225), mitotic figures (P<0.01, RR=1.415, 95% CI: 2.126 to 7.968) and tumor rupture (P=0.01, RR=1.578, 95% CI: 1.543 to 15.892) were independent prognostic factors.

CONCLUSIONR0 resection combined with targeted therapy is the best treatment of GIST. Tumor size, location, mitosis count and tumor rupture are independent prognostic factors of GIST patients.

Aged ; Beijing ; Female ; Follow-Up Studies ; Gastrointestinal Stromal Tumors ; diagnosis ; pathology ; Humans ; Intestine, Small ; pathology ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Multivariate Analysis ; Neoplasm Recurrence, Local ; Prognosis ; Proportional Hazards Models ; Retrospective Studies ; Stomach ; pathology ; Survival Rate

OBJECTIVE: We aimed to describe radiologic signs and time-course of imatinib-associated fluid retention (FR) in patients with gastrointestinal stromal tumor (GIST), and its implications for management. MATERIALS AND METHODS: In this Institutional Review Board-approved, retrospective study of 403 patients with GIST treated with imatinib, 15 patients with imaging findings of FR were identified by screening radiology reports, followed by manual confirmation. Subcutaneous edema, ascites, pleural effusion, and pericardial effusion were graded on a four-point scale on CT scans; total score was the sum of these four scores. RESULTS: The most common radiologic sign of FR was subcutaneous edema (15/15, 100%), followed by ascites (12/15, 80%), pleural effusion (11/15, 73%), and pericardial effusion (6/15, 40%) at the time of maximum FR. Two distinct types of FR were observed: 1) acute/progressive FR, characterized by acute aggravation of FR and rapid improvement after management, 2) intermittent/steady FR, characterized by occasional or persistent mild FR. Acute/progressive FR always occurred early after drug initiation/dose escalation (median 1.9 month, range 0.3-4.0 months), while intermittent/steady FR occurred at any time. Compared to intermittent/steady FR, acute/progressive FR was severe (median score, 5 vs. 2.5, p = 0.002), and often required drug-cessation/dose-reduction. CONCLUSION: Two distinct types (acute/progressive and intermittent/steady FR) of imatinib-associated FR are observed and each type requires different management.
Adult ; Aged ; Aged, 80 and over ; Antineoplastic Agents/*adverse effects/therapeutic use ; Ascites/pathology/radiography ; Benzamides/*adverse effects/therapeutic use ; Echocardiography/methods ; Edema/pathology/radiography ; Female ; Gastrointestinal Stromal Tumors/drug therapy/pathology/*radiography ; Gastrointestinal Tract/pathology/*radiography ; Heart Failure/radiography ; Humans ; Male ; Middle Aged ; Molecular Targeted Therapy/*adverse effects ; Pericardial Effusion/pathology/radiography ; Peritoneal Neoplasms/diagnosis/radiography/secondary ; Piperazines/*adverse effects/therapeutic use ; Pleural Effusion/pathology/radiography ; Pyrimidines/*adverse effects/therapeutic use ; Radiology ; Retrospective Studies ; Tomography, X-Ray Computed

No abstract available.
Adult ; Antineoplastic Agents/*adverse effects ; Antitubercular Agents/therapeutic use ; Biopsy ; Female ; Gastrointestinal Stromal Tumors/*drug therapy/pathology/surgery ; Humans ; Imatinib Mesylate/*adverse effects ; Lung Diseases, Interstitial/*chemically induced/diagnosis ; Mycobacterium tuberculosis/*isolation & purification ; Protein Kinase Inhibitors/*adverse effects ; Rectal Neoplasms/*drug therapy/pathology/surgery ; Tomography, X-Ray Computed ; Tuberculosis, Pulmonary/diagnosis/drug therapy/*microbiology

Small round cell tumors (SRCTs) are a heterogeneous group of neoplasms composed of small, primitive, and undifferentiated cells sharing similar histology under light microscopy. SRCTs include Ewing sarcoma/peripheral neuroectodermal tumor family tumors, neuroblastoma, desmoplastic SRCT, rhabdomyosarcoma, poorly differentiated round cell synovial sarcoma, mesenchymal chondrosarcoma, small cell osteosarcoma, small cell malignant peripheral nerve sheath tumor, and small cell schwannoma. Non-Hodgkin\'s malignant lymphoma, myeloid sarcoma, malignant melanoma, and gastrointestinal stromal tumor may also present as SRCT. The current shift towards immunohistochemistry and cytogenetic molecular techniques for SRCT may be inappropriate because of antigenic overlapping or inconclusive molecular results due to the lack of differentiation of primitive cells and unavailable genetic service or limited moleculocytogenetic experience. Although usage has declined, electron microscopy (EM) remains very useful and shows salient features for the diagnosis of SRCTs. Although EM is not always required, it provides reliability and validity in the diagnosis of SRCT. Here, the ultrastructural characteristics of SRCTs are reviewed and we suggest that EM would be utilized as one of the reliable modalities for the diagnosis of undifferentiated and poorly differentiated SRCTs.
Chondrosarcoma, Mesenchymal ; Cytogenetics ; Diagnosis ; Gastrointestinal Stromal Tumors ; Genetic Services ; Humans ; Immunohistochemistry ; Lymphoma ; Melanoma ; Microscopy ; Microscopy, Electron ; Microscopy, Electron, Transmission* ; Neurilemmoma ; Neuroblastoma ; Neuroectodermal Tumors ; Osteosarcoma ; Pathology ; Peripheral Nerves ; Reproducibility of Results ; Rhabdomyosarcoma ; Sarcoma, Myeloid ; Sarcoma, Synovial

BACKGROUND/AIMS: Gastric schwannoma (GS), a rare neurogenic mesenchymal tumor, is usually benign, slow-growing, and asymptomatic. However, GS is often misdiagnosed as gastrointestinal stromal tumors (GIST) on endoscopic and radiological examinations. The purpose of this study was to evaluate EUS characteristics of GS distinguished from GIST. METHODS: A total of 119 gastric subepithelial lesions, including 31 GSs and 88 GISTs, who were histologically identified and underwent EUS, were enrolled in this study. We evaluated the EUS characteristics, including location, size, gross morphology, mucosal lesion, layer of origin, border, echogenic pattern, marginal halo, and presence of an internal echoic lesion by retrospective review of the medical records. RESULTS: GS patients comprised nine males and 22 females, indicating female predominance. In the gross morphology according to Yamada's classification, type I was predominant in GS and type III was predominant in GIST. In location, GSs were predominantly located in the gastric body and GISTs were predominantly located in the cardia or fundus. The frequency of 4th layer origin and isoechogenicity as compared to the echogenicity of proper muscle layer was significantly more common in GS than GIST. Although not statistically significant, marginal halo was more frequent in GS than GIST. The presence of an internal echoic lesion was significantly more common in GIST than GS. CONCLUSIONS: The EUS characteristics, including tumor location, gross morphology, layer of origin, echogenicity in comparison with the normal muscle layer, and presence of an internal echoic lesion may be useful in distinguishing between GS and GIST.
Adult ; Aged ; Diagnosis, Differential ; Endosonography ; Female ; Gastric Fundus/pathology ; Gastrointestinal Stromal Tumors/*diagnosis/diagnostic imaging/pathology ; Humans ; Male ; Middle Aged ; Neoplasm Staging ; Neurilemmoma/*diagnosis/diagnostic imaging/pathology ; Retrospective Studies ; Stomach Neoplasms/*diagnosis/diagnostic imaging/pathology

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. Imatinib mesylate is recommended as adjuvant therapy for GIST after surgical resection. However, drug-related adverse events are common. A 74-year-old female with metastatic GIST who was managed with imatinib experienced severe adverse events, including skin rashes, tremor, and alopecia, etc. The imatinib dose was reduced and the size of the metastatic GIST continued to decrease and adverse events showed significant improvement.
Aged ; Antineoplastic Agents/adverse effects/*therapeutic use ; Exanthema/etiology ; Female ; Gastrointestinal Neoplasms/diagnosis/*drug therapy/pathology ; Gastrointestinal Stromal Tumors/diagnosis/*drug therapy/pathology ; Humans ; Imatinib Mesylate/adverse effects/*therapeutic use ; Immunohistochemistry ; Proto-Oncogene Proteins c-kit/metabolism ; Tomography, X-Ray Computed