A rare giant gastrointestinal stromal tumor (GIST) of the stomach traversing the upper abdomen: a case report and literature review

ABSTRACT: This article presents a 66-year-old woman with a huge GIST of stomach that traverses the upper abdomen. With only the predominant abdominal sign featuring a palpable huge mass, but none special physical findings and routine blood as well as biochemical markers, it could hardly judge where the mass drive from upon the images. Furthermore, many important blood vessels had a complex relationship with the mass according to radiological findings. An exploratory laparotomy revealed a huge tumor that protrude from prior wall of stomach fundus, lesser curvature of stomach side, measuring approximately 21 x 34 x 11 cm in diameter and weighing 5.5Kg. A completely resection was decided on the tumor and the department of pathology immunohistochemically characterized it (CD117, CD34, Dog-1, etc) as a GIST of stomach. Preoperatively diagnosis of GISTs is still sometimes puzzling. Hoping the presentation of this rare case and the literature review could benefit others in similar problems.     

儿童胃肠间质瘤治疗进展

胃肠道间质瘤(Gastrointestinal stromal tumors, GIST)是最常见的间叶源性肿瘤。最新统计结果显示,其全球发病率约5~19/106。成人患者临床表现常无特异性,患者多有腹痛、血便、腹胀等症状。GIST主要发生在中老年群体,在儿科极为罕见,因此儿童患者经常被漏诊或误诊。随着近年来基因检测的广泛应用,以及有关儿童GIST研究的深入,发现它代表着一个不同于成人GIST的临床疾病。成人GIST当前主要治疗方式以手术为主,同时根据患者病情应用靶向药物辅助治疗。然而对于儿科患者,一些用于成人肿瘤的治疗方案难以达到理想的治疗效果,甚至会造成不良后果。儿童胃肠道间质瘤的独特生物学特性,决定了它需要独特的治疗方案,以达到最佳的临床疗效。本综述旨在研讨最新文献,提供不同的儿童胃肠道间质瘤的治疗方式。     

Reclassification of gastrointestinal mesenchymal tumors

A retrospective (1985-2005) multicentric evaluation of the pathological diagnoses of GIST (gastrointestinal stromal tumor) in Hungary was performed. A large cohort of 463 patients with abdominal mesenchymal tumors was reevaluated with the help of immunohistochemistry for CD117, CD34, desmin and S100. Prognostic groups have been established based on international criteria. Two hundred fifty five GISTs have been found in 245 patients during the evaluated period. Beside GIST, 81 leiomyogenic and 25 neurogenic tumors were the primary pathological diagnosis and in 74/255 cases the primary diagnosis was a benign tumor. In our cohort high-risk GIST cases were found to be the predominant. Based on our experience, in case of abdominal tumors of uncertain localization, immunohistochemical markers of CD117, CD34, S100 and desmin provide a proper tool for precise identification of the tumor entity including GIST.     

Diagnosis of gastric glomus tumor by endoscopic ultrasound-guided fine needle aspiration biopsy. A case report with cytologic,histologic and immunohistochemical studies

BACKGROUND: The majority of glomus tumor are small, benign neoplasms that arise from modified smooth muscle cells. They usually occur in the dermis or subcutis of the extremities. However, rare cases have been reported in the visceral locations, most often in the stomach. CASE: A 32-year-old woman presented with episodes of right upper quadrant pain. She was found to have a gastric tumor that was biopsied at another hospital, where the diagnosis of gastrointestinal stromal tumor (GIST) was made. Endoscopic ultrasound (EUS) performed at our institution revealed a gastric submucosal tumor that was then biopsied by fine needle aspiration (FNA). Cytology revealed cohesive clusters of uniform, round, small cells with ill-defined cytoplasmic borders and scanty, amphophilic cytoplasm. Nuclei were round, with smooth nuclear membranes and evenly distributed, dusty chromatin. Intermingled with those epithelioid cells were small, short, spindled, normal endothelial cells. Immunohistochemical studies performed on cell block showed that the tumor cells were negative for CD34, CD117, chromogranin, synaptophysin, desmin and AE1/AE3 and were strongly positive for SMA, HHF-35 and collagen type IV. Glomus tumor was diagnosed and later confirmed by histology. CONCLUSION: EUS-guided FNA biopsy is efficient and permits adequate sampling for accurate diagnosis of gastric glomus tumor. Although rare, glomus tumor should be in the differential diagnosis among other gastric lesions, such as well-differentiated adenocarcinoma, epithelioid GIST and carcinoid tumor.     

Primary gastrointestinal stromal tumor of the mesentery

Primary solid tumors of the mesentery are very rare. The authors found a bulky gastrointestinal stromal tumor (GIST) in the mesentery. The stomach and the intestines were tumor-free.     

Spontaneously ruptured gastrointestinal stromal tumor (GIST) of the jejunum mimicking acute appendicitis

Gastrointestinal stromal tumors (GISTs) are characterized with diverse clinical presentations, including acute and chronic gastrointestinal bleeding, abdominal pain, presence of an intra-abdominal mass, anorexia, and intestinal obstruction. A 60-year-old obese woman presented as an acute abdominal emergency with right lower quadrant (RLQ) pain and tenderness, nausea and leukocytosis, all mimicking acute appendicitis. Laparotomy revealed a spontaneously ruptured GIST of the jejunum, which was localized to the RLQ due to postoperative adhesions following previous two cesarean sections and cholecystectomy. Complete surgical resection was performed, followed by an uneventful early postoperative course.     

Signet ring cell lobular carcinoma of the breast presenting in a cervicovaginal smear. A case report

BACKGROUND: The presence of extragenital malignant cells in cervicovaginal smears is a rare and usually late event in a patient with a long history of cancer. This, to the best of our knowledge, is the first case of breast cancer initially diagnosed on a Pap smear. CASE: A 50-year-old woman presented with abdominal distension and weight gain. A Pap smear showed numerous signet ring cells and was diagnosed as signet ring cell adenocarcinoma, most likely metastatic from the breast or stomach. Subsequent evaluation revealed bilateral adnexal masses and inguinal lymphadenopathy, leading to hysterectomy and bilateral salpingo-oophorectomy. The ovaries, corpus and cervix were involved by signet ring cell carcinoma. The metastatic tumor proved to be positive for CK7, CEA, estrogen receptor and progesterone receptors and negative for CK20. Despite the absence of a discrete palpable breast mass, a mammogram was recommended based on these results, and an ensuing breast biopsy showed the presence of an infiltrating lobular carcinoma. CONCLUSION: Lobular carcinoma of the breast may present in a cervicovaginal smear. Correct interpretation of signet ring cells as metastatic, most likely from the breast or stomach, is helpful in guiding management.     

Cytodiagnosis and comparison of nondecidualized and decidualized endometriosis of the abdominal wall. A report of two cases.

We describe two cases of endometriosis of the abdominal wall occurring in young, multiparous women in which the diagnosis was made by fine needle aspiration biopsy. One case illustrates the cytologic features of non-decidualized endometriosis: a biphasic population of stromal and glandular cells. In contrast, the other case showed large, plump stromal cells in a distinctive myxoid background, creating a picture of decidualized endometriosis. The differential diagnoses of palpable masses in the abdominal wall and the importance of clinicopathologic correlation are discussed.     

Dual tumours in the GI tract: synchronous and metachronous stromal (GIST) and epithelial/neuroendocrine neoplasms

Gastrointestinal stromal tumours (GIST) constitute the most frequent group of mesenchymal tumours in the gastrointestinal tract (GI). During the last several decades major advances have been taken in the diagnostics, treatment, and understanding of its pathogenesis. However, much less is known about the either metachronous or synchronous concurrence of GIST and other tumours of different histogenesis. In the present study clinicopathological data of 43 patients with histologically proved gastrointestinal stromal tumour were studied mainly in regard of the occurrence of a secondary neoplasm. Among the 43, 7 cases were found with secondary tumour mainly of epithelial origin. In three cases (cases 3, 5, and 7) GIST concurred with colorectal adenocarcinoma, in one case (case 1) GIST occurred in a patient with a 3-years-history of chronic lymphocytic leukaemia (CLL), in other two (cases 2 and 4) the stromal tumour was combined with in situ adenocarcinoma of the stomach and carcinoid of the pancreas, respectively. In case 6, GIST concurred with a duodenal Brunner gland adenoma. In five cases the stromal tumour and the other neoplasm occurred synchronously, and in four of them, being the stromal tumour clinically silent, GISTs were intraoperative findings. This confirms the importance of surgical intraabdominal control before closure. In one hand the repeated concurrence of GIST and colorectal adenocarcinoma in our series, and on the other hand, that of GIST and adenocarcinoma of the stomach in the literature, may indicate an at least partly common factor, which may be involved in the pathogenesis of these neoplasms.     

Thick calcification from a GIST of the stomach penetrating into pericolic soft tissue - report of a case

Thick calcification is a rare presentation of gastrointestinal stromal tumor (GIST). Penetration into gastric mucosa and pericolic soft tissue has never been reported. We report a case of gastric GIST with cystic degeneration and thick calcification in an 81-year old female, who presented with hematemesis and severe abdominal pain. Thick calcification of this tumor penetrating into pericolic soft tissue was noted and successfully treated by distal gastrectomy and partial colectomy. For gastrointestinal tumors with thick calcification, even with benign behavior, surgical intervention should be considered for both oncological considerations and prevention of catastrophes like perforation or penetration into surrounding soft tissue.     

Aberrant positive metaiodobenzylguanidine (MIBG) scan in a patient with gastrointestinal stromal tumor

¹²³I-metaiodobenzylguanidine (MIBG) scintigraphy is an effective means of diagnosing chromaffin-cell tumors such as pheochromocytoma. We report a very rare case of a 45-year-old patient with large intra-abdominal mass and elevated urinary normetanephrines. ¹²³I-MIBG scintigraphy showed mild MIBG uptake. Although initial findings suggested a pheochromocytoma, histologic examination along with immunohistochemical staining revealed features suggestive of gastrointestinal stromal tumor (GIST).     

A gastrointestinal stromal tumor (GIST) masquerading as an ovarian mass

Background

Malignant gastrointestinal stromal tumors (GIST) are rare mesenchymal tumors originating in the wall of the gastrointestinal tract. Myogenic gastrointestinal stromal tumor, a distinctive morphologic variant is characterized by an unusually prominent myxoid stromal background.

Case presentation

We report a case of myxoid variant of GIST in a 42 years old woman presenting as an epigastric mass associated to an ovarian cyst and elevated CA-125. Histologically, the lesions was composed of a proliferation of spindle cells in an abundant myxoid stroma, without evidence of atypia or anaplasia. Immunohistochemical stains showed strong positive staining with muscle actin, positive staining with CD34 and weak positive staining with CD117, while showed negative for S-100.

Conclusion

At surgery every effort should be made to identify the origin of the tumor. A complete surgical removal of the tumor should be obtained, as this is the only established treatment that offers long term survival.     

Malignant epithelioid gastrointestinal stromal tumors: report of a case with cytologic and immunohistochemical studies

BACKGROUND: Gastrointestinal stromal tumors (GISTs) may exhibit a fusiform, epithelioid or mixed pattern of growth. Only rare articles report the cytologic and immunohistochemical features of malignant epithelioid tumors. CASE: A 57-year-old woman presented with a tumor mass in the small intestine omentum measuring 8 x 7 cm; it was surgically removed. Five years later 2 mesenteric relapses were studied by fine needle aspiration biopsy and later surgically excised. Cytologically the smears contained small clusters of epithelioid and plasmacytoid cells with round nuclei. The presence of nucleoli and occasional nuclear grooves were prominent. Focally the background was myxoid. Histologically the tumor showed an epithelioid pattern with moderate pleomorphism and mitoses in 6 of 50 high-power fields. Immunohistochemical study showed positivity for c-kit (CD117), vimentin, smooth muscle actin and caldesmon, and focally for desmin and cytokeratin. CONCLUSION: This case illustrates the difficulty in making a reliable diagnosis of the epithelioid variant of GIST by cytology alone. The immunohistochemical panel (apart from c-kit) should include smooth muscle markers and cytokeratins because they are more likely to be reactive. A complete cytoimmunohistochemical evaluation is mandatory to make an accurate diagnosis.     

Testicular juvenile granulosa cell tumor: a case report

BACKGROUND: Juvenile granulosa cell tumors of the testis are rare gonadal stromal tumors of the pediatric age. They represent the most common neoplasms of the testis in the first 6 months of life. A testicular cystic mass is detected, or it can appear as an abdominal or inguinal mass. Differential diagnosis for testicular tumors at this age includes teratoma, simple cyst, epidermoid cyst, lymphangioma and testicular torsion. Association with ambiguous genitalia and sex chromosome abnormalities has been reported. Orchiectomy alone is recommended, because no case of metastasis or recurrence has been reported. CASE: We report a case of a 3-month-old male infant with a testicular juvenile granulosa cell tumor mass initially evaluated by fine needle biopsy, which disclosed single or cohesive groups of vimentin, alpha-inhibin and S-100-positive spindle cells with regular nuclei and fine chromatin and inconspicuous nucleoli. Orchiectomy was performed, and histology revealed a juvenile granulosa cell tumor. CONCLUSION: Even though juvenile granulosa cell tumor is the most common neoplasm of the testis in the first 6 months of life, we found no reports describing its cytologic features. In this setting, fine needle aspiration cytology is a useful tool for initial and therapeutic management.     

A case of gastrointestinal stromal tumor with spontaneous rupture in the greater omentum

Background

Although GIST generally occurs in the digestive tract, such as the stomach, and small and small intestine primarily, Omental GIST tumours are very rare.

Case Presentation

A 63-year-old male patient, who recognized an abdominal tumor 1 year before admission, had a slight expansion of the tumor, reduction of the body and malaise, was consulted to our hospital. Abdominal CT and MRI revealed a cystic lesion of 26 cm in diameter with a clear boundary from immediately below the interseptum to the pelvic cavity, and imaged the septum and cystic wall. We considered that the patient had a cystic tumor in the abdomen, of which the primary lesion was unknown, and scheduled surgery. The patient unfortunately deteriorated with shock and sudden pain in the abdomen. Wediagnosed tumor rapture, and emergency surgery was performed. The tumor, weighing 3,600 g, was mostly cystic, and filled with sanguinous fluid and clot. Histologically, the tumor was composed of spindle cells, and was positive for c-KIT (CD117), slightly positive for alpha-smooth muscle actin (SMA), and S-100 protein positive. Based on these findings, the tumor was diagnosed as GIST primarily occurring in the greater omentum.

Conclusion

We experienced a rare case of GIST which originated from the greater omentum. Recently, the prognosis of GIST has been improved since the treatment with Imatinib.It is necessary to consider the diagnosis of GIST on encountering a mass in the greater omentum.

     

Biological significance of chromosomal imbalance aberrations in gastrointestinal stromal tumors

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Current criteria for the diagnosis of malignant GISTs do not always reliably predict patient outcomes. In order to search for genetic markers with prognostic potential, chromosomal imbalance aberrations (CIAs) were analyzed in 28 subjects with GIST using comparative genomic hybridization and correlated with clinicopathological features. Except for a small rectal tumor, CIAs were identified in all GISTs, including 14 from the stomach, 11 from the small intestine, 1 from the esophagus, and 1 from the rectum. Losses were more common than gains. The median number of CIAs in high-risk GISTs was significantly higher than that in low-risk GISTs (5.60±2.59 vs. 3.38±2.55; p<0.05), especially for losses (4.60±1.84 vs. 2.63±2.13; p<0.01). Loss of 14q was the most common CIA in both low-risk and high-risk GISTs, and can be regarded as an early event of GIST development. Losses of 1p and 15q were also very common, often coexisting, and were slightly more frequent in high-risk GISTs than in low-risk GISTs. Other recurrent CIAs, including losses of 10q, 13q, 15q, 18q, and 22q and gains of 5p, 12q, 17q, and 20q were relatively less common in this series. Among these CIAs, losses of 13q, 10q (with minimal overlapping on q11–q22), and 22q were most likely the chromosomal loci potentially harboring the tumor suppressor gene(s) which may be related to early recurrence and/or metastasis during malignant transformation of GISTs.     

Giant gastrointestinal stromal tumor with predominantly cystic changes: a case report and literature review

Background

Gastrointestinal stromal tumors (GISTs) rarely present with predominantly cystic changes. Here, we report a case of giant GIST of the stomach with predominantly cystic changes in a 74-year-old female patient.

Case presentation

The tumor was 10 cm?×?15 cm in size and positive for CD117, H-caldesmon, and DOG-1. Complete surgical resection was performed without regional lymphadenectomy. The patient recovered uneventfully and no recurrence occurred.

Conclusions

The case illustrates that GIST with cystic changes should be considered in the diagnoses of hepatic and pancreatic lesions. Furthermore, immunohistochemistry with CD117, DOG1, and other molecular markers is critical for diagnosis of GIST of the stomach and facilitates optimization of treatments for GIST.

     

PRIMARY CARCINOMA OF THE GALLBLADDER—Review of 173 Cases

One hundred seventy-three cases of primary carcinoma of the gallbladder were analyzed. In the group studied they made 2.11 per cent of all malignant tumors found at autopsy and were found in 1.89 per cent of all cases in which operation was done on the biliary tract. There was no appreciable change in the incidence of this tumor at autopsy during the period studied (1918-1948) at the Los Angeles County Hospital. Sixty-eight per cent of the cases were in females. A particularly high incidence was noted in Mexican females.Upper abdominal pain, loss of weight, nausea and vomiting, jaundice, and palpable mass or enlarged liver were the most common clinical features. Approximately one-third of the patients in whom the lesion was found at operation and one-fifth of all the patients whose records were studied had a history of chronic gallbladder disease.All but two of the 38 patients operated on were dead or had clinical recurrence within two years. One was alive and well 12 years after cholecystectomy.The most common gross appearance, particularly at autopsy, was a large tumor mass replacing the gallbladder and radiating to nearby organs, particularly the liver. In about one-third of the cases the tumor was grossly limited to the gallbladder. Polypoid tumors occurred in only about 10 per cent of the cases and most of the tumors were diffusely growing adenocarcinoma. Perforation appeared in nine cases, usually with fistula to the gastrointestinal tract. All of the tumors were histologically adenocarcinoma, usually of simple glandular structure. No purely squamous cell growth occurred.Gallstones were found in 79.8 per cent of the cases.     

Gastrointestinal stromal tumor in ascitic fluid. A case report

BACKGROUND: There are few published data on the cytologic features of gastrointestinal stromal tumors (GISTs) in ascitic fluid and whether these features may mimic those of other malignancies. CASE: An 80-year-old woman presented with ascitics associated with multiple intraperitoneal masses. Cytologic examination of the ascitic fluid showed numerous three-dimensional clusters of epithelioid cells. These features and the presence of large, intracytoplasmic vacuoles raised a possible diagnosis of adenocarcinoma. However, mucin could not be demonstrated in the vacuoles, and the cells showed immunoreactivity for vimentin and c-kit but not for cytokeratins. Eighteen months earlier the patient had undergone a partial gastrectomy for a GIST, which predominantly comprised vacuolated, epithelioid cells. The immunoprofile of the primary tumor was identical to that of the ascitic fluid cells. CONCLUSION: GIST cells may closely mimic adenocarcinoma cells in ascitic fluid. Distinguishing between the two neoplasms has important clinical repercussions and is aided by histochemical and immunocytochemical studies--in particular, c-kit immunostaining.