Gene expression profiling in sarcomas

Sarcomas are a heterogeneous group of malignant mesenchymal tumors of difficult classification. There is considerable variability in both histological appearance and responsiveness to therapy. Their overall poor clinical prognosis is reflected by the fact that >65% of patients suffering retroperitoneal soft tissue sarcoma die within 5 years [Heslin MJ, et al. Prognostic factors associated with long-term survival for retroperitoneal sarcoma: implications for management. J Clin Oncol 1997;15(8):2832-9]. A greater understanding of the biology of sarcomas is needed in order to increase the potential for identifying new therapeutic targets and strategies. Microarray analysis permits a global approach to gene expression analysis of thousands of genes at the same time and has proven to be useful for further molecular characterization of tumor tissue and cell lines. This article provides a comprehensive review of possible new biomarkers identified in gene expression studies of sarcomas. These markers give new insight into the pathogenesis of sarcomas, such as malignant fibrous histiocytoma [Lee YF, et al. Molecular classification of synovial sarcomas, leiomyosarcomas and malignant fibrous histiocytomas by gene expression profiling. Br J Cancer 2003;88(4):510-5], allow a further subclassifcation of tumors like calponin-positive and calponin-negative leiomyosarcoma, or may help to predict treatment responsiveness and prognosis in patients based on an individual gene expression pattern. In some studies candidate targets for possible new treatment strategies were identified. For instance newly identified markers such as ERBB2 [Allander SV, et al. Expression profiling of synovial sarcoma by cDNA microarrays: association of ERBB2, IGFBP2, and ELF3 with epithelial differentiation. Am J Pathol 2002;161(5):1587-95] and EGFR [Nielsen TO, et al. Molecular characterization of soft tissue tumours: a gene expression study. Lancet 2002;359(9314):1301-7] might lead to the possible therapeutic use of Trastuzumab, Gefitinib or Cetuximab in synovial sarcoma, comparable to the use of tyrosine kinase inhibitor STI (Gleevec) that is the standard treatment today of CD117-positive gastrointestinal stromal tumors.     

Intraperitoneal dedifferentiated liposarcoma： A case report

Dedifferentiated liposarcoma is a variant of liposarcoma with a more aggressive course. Mutations of the p53 gene have been found in different types of soft tissue sarcoma. It is generally accepted that p53 mutations in human malignant tumors are often related to a poor prognosis. In our case, analysis of p53 gene mutation in tumor samples was performed, p53 gene mutation was observed in dedifferentiated tumor tissue samples but not in well-differentiated tumor tissue samples. It has been reported thatp53 gene mutation occurs most commonly in the retroperitoneum and rarely in other anatomic locations. Herein we report a case of dedifferentiated liposarcoma located at intraperitoneum.     

Rectal GIST Presenting as a Submucosal Calculus

This case report presents an incidental finding of a rectal GIST (gastrointestinal stromal tumor) presenting as a submucosal calculus, not previously reported. A 53-year-old man without a significant medical history presented with abdominal pain in the left lower quadrant, and with constipation. Upon rectal examination, a hard submucosal swelling was palpated 4 cm from the anus, at 3 o'clock, in the left rectum wall. X-ray photos, computerized tomography (CT)-scan and a magnetic resonance imaging (MRI) scan clearly showed a calculus. Excision revealed a turnip-like lesion, 3.1 x 2.3 x 1.8 cm. Analysis showed it was a rectal GIST, a rare mesenchymal tumor of the gastrointestinal tract, which expressed CD117 (or c-kit, a marker of kit-receptor tyrosine kinase) and CD34. Calcification is not a usual clinicopathological feature of GISTs [1-3], and although a number of rectal GISTs have been reported [4-9], we have found no cases so far of rectal GIST presenting as a submucosal calculus.In general, GISTs are rare mesenchymal tumors of the gastrointestinal tract (nerve tissue, smooth muscle). Histology and immunohistochemistry discriminate gastrointestinal stromal tumors from leiomyomas and neurinomas. The most important location is the stomach; the rectal location is rare. Usually, the classic signs of malignancy such as cellular invasion and metastasis are missing. A set of histologic criteria stratifies GIST for risk of malignant behavior such as mitotic activity and tumor size, cellular pleomorphism, developmental stage of the cell and quantity of cytoplasma [7,13]. Tumors with a high mitotic activity and size above 5 cm are considered malignant. Recent pharmacological advances such as tyrosine kinase inhibitors have determined c-kit (i.e., CD117) as the most important marker, amongst others. C-kit positive tumors respond extremely well to chemotherapy with Imatinib (Glivec, Gleevec) [10-12].     

Liposarcoma of the pleural cavity

We report a case of pleural liposarcoma in a 58-year-old male patient with a twenty-year history of smoking, who was admitted for chest pain and chronic cough. Pleural liposarcoma is a rare, highly malignant intrathoracic tumor arising from the soft tissue of the pleural cavity. Chest radiograph and CT scan revealed a homogeneous mass with subtotal opacification of the left hemithorax. Tumor diagnosis was based on histopathological examination of a transparietal biopsy and revealed a mixed type liposarcoma. Surgical resection was performed followed by adjuvant irradiation. No recurrence was diagnosed during the follow-up period of ten months and the patient continues to do well at the time of writing this paper.     

Myxoid Liposarcoma in the Abdominal Wall: A Case Report

A liposarcoma is the most common type of soft tissue sarcoma, and most liposarcomas are malignant. The extremities are the most common site for liposarcomas. There are 5 histologic types of liposarcoma, as follows: well differentiated; myxoid; round cell; pleomorphic; and dedifferentiated. Myxoid liposarcomas (MLSs) represent a subgroup of liposarcomas. There has been no report of MLSs in the abdominal wall.We report a rare case of a MLS of a 43-year-old male who presented with tensile force on the abdominal wall. Computed tomography (CT) found a tumor in abdominal wall. There was no other abnormal symptom and the laboratory testing was also unusual.At last, the tumor was successfully excised, which was diagnosed MLSs in pathology. Following standard principles, after complete excision, the patient received radiotherapy. The patient was followed up for 8 month and no disease recurrence was identified.MLSs are rarely seen in the clinic, irrespective of the presenting signs, but also based on histologic features. The aim of this report was to present the differential diagnosis of an abdominal wall mass, and to remind us of MLSs.     

Glomus tumor of the stomach: a case treated by endoscopic submucosal dissection

Glomus tumors, as a type of quite rare neoplasms, originate from modified smooth muscle cells of the glomus body whose function is to regulate blood flow within arteries according to the body temperature. Although these tumors most commonly occur in the peripheral soft tissues, especially in the distal parts of extremities, there have been rare reports of visceral involvement (Lorber et al., 2005) [1]. We report a case of gastric glomus tumor, which was preoperatively diagnosed by ultrasonic endoscopy as a gastric stromal tumor and treated by endoscopic submucosal dissection (ESD).     

Giant lesser sac liposarcoma mimicking infected pancreatic pseudocyst.

The most common site for abdominal liposarcoma is the retroperitoneum. We report a 32-year-old man with lesser-sac myxoid liposarcoma with extensive cystic degeneration. Cystogastrostomy was attempted elsewhere with a misdiagnosis of pancreatic pseudocyst. However, the procedure was abandoned after biopsy, which showed features of liposarcoma. The patient was re-explored at our institute 2 weeks later. Complete excision of the tumor was done. Histology revealed features of myxoid liposarcoma. The patient received adjuvant radiotherapy and is doing well 12 months later.     

Correlation of tumor-cell growth in four semisolid systems

The correlation of the colony growth of cells disaggregated from human melanoma, sarcoma, lung, and ovarian carcinomas were studied in four different semisolid tissue culture assays: (a) the soft agar assay of Pluznik and Sachs; (b) the soft agar assay of Hamburger and Salmon; (c) the soft agar-methyl cellulose assay of Buick et al.; and (d) the methyl cellulose assay of Ogawa et al. There was no colony growth of tumor cells achieved in 15 of 15 cases assayed in Ogawa's methyl cellulose assay. The plating efficiency of the above mentioned tumors was similar in the assays of Pluznik and Sachs, Hamburger and Salmon, and Buick et al. However, the tumor take rate differed among these three systems. The assay of Buick et al. appears potentially useful for analysis of the biology of human tumors.     

Increased cytosol glucocorticoid receptor content of leiomyosarcoma

Glucocorticoid receptor content was determined in cytosol preparations of soft tissue tumors from 42 patients. Leiomyosarcoma had significantly elevated receptors in comparison to malignant melanoma, liposarcoma, malignant fibrous histiocytoma, and invasive desmoid.     

Retroperitoneal giant angiomyolipoma diagnosed post-partum with lymph node involvement

HISTORY AND PRESENTING COMPLAINT: A 30-year-old primipara after a normal pregnancy had delivered a 3340 g child. After an uneventful post-partum period she had noticed her abdomen failing to reduce in size. INVESTIGATIONS, DIAGNOSIS AND TREATMENT: The abdominal sonography discovered a large retroperitoneal tumor. CT and MRI showed a giant tumor which originated from the right kidney. Suspecting the diagnosis of renal liposarcoma the kidney and tumor were excised with removal of enlarged precaval and preaortal lymph nodes. Gross inspection revealed a ca. 3,2 kg myxoid tumor, measuring 27 x 19 x 10 cm. The histological examination of the surgical preparation revealed a retroperitoneal angiomyolipoma. CONCLUSION: This is the first case of a giant retroperitoneal angiomyolipoma with lymph node involvement diagnosed post partum.     

Giant primary liposarcoma of the stomach: a case report

Liposarcoma is the most common soft tissue sarcoma and accounts for 15%–20% of all mesenchymal malignancies. The tumor occurs most frequently in the limbs, retroperitoneum and rarely has a visceral location. We report a case of a gastric liposarcoma in a male patient who was admitted to hospital for abdominal discomfort and feeling fullness lasting for a month. The CT examination revealed a giant epigastric mass (36 cm × 34 cm) involving the wall of the stomach. A subtotal gastrectomy together was performed. The histopathological diagnosis was a myxoïd liposarcoma. The patient did not undergo any adjuvant treatment. He was under close follow up and nine months after surgery he represented with tumor recurrence. We report this case due to the rarity of this tumor in the stomach (fifteen cases reported in the literature).     

Giant-cell tumor of the sacrum

We have presented a case of a patient with sacral giant-cell tumor and reviewed the literature. This is a rare disease originating from the mesenchyme of bone marrow which grows out through the cortex. It is essentially benign but behaves like a malignant tumor in view of frequent recurrences and a high incidence of malignant transformation. Cure can be achieved only by complete extirpation of tumor along with surrounding soft tissue.     

A patient with mediastinal liposarcoma showing dedifferentiation]

A 70-year-old man visited our hospital with fever and general malaise. Chest CT scanning showed a large tumor shadow in the anterior mediastinum. The tumor was resected. It consisted of a portion rich in fat on the anterior mediastinal side and a solid portion on the left thoracic cavity side. Pathological examination demonstrated liposarcoma (myxoid type). The solid portion was considered to have resulted from dedifferentiation of the cystic portion. Mediastinal liposarcoma accounts for less than 1% of all mediastinal tumors. To our knowledge, there have been no previous reports of patients with myxoid-type mediastinal liposarcoma showing dedifferentiation.     

Primary liposarcoma of esophagus： A case report

Liposarcoma is the most common soft tissue sarcoma inadult life while esophageal liposarcoma is an extremelyrare tumor.In the world literature,only 14 cases ofesophageal liposarcomas have been described.We reporta 72-year old male patient who was urgently admittedto our hospital for acute epigastric pain with a burningretrosternal sensation,persistent nausea,vomiting anddysphagia.Barium swallow,upper gastrointestinal(GI)endoscopy,esophageal manometry and CT scan,failedto accurately diagnose the lesion.After surgical resectionof an esophageal polypoid tumor,the histologicalexamination revealed a well-differentiated grade Iliposarcoma.Diagnostic and therapeutic tools were dis-cussed and the results of literature were reviewed.     

Liposarcoma of the stomach： A rare case report

Liposarcoma is the most common soft tissue sarcoma and accounts for 15%-20% of all mesenchymal malignancies. The tumor occurs most frequently in the limbs, retroperitoneum and rarely has a visceral location. We report a case of a gastric liposarcoma in a male patient. A 68 years old male patient was admitted to hospital for abdominal discomfort and fullness lasting for a month. He reported rare episodes of vomiting. The CT examination revealed a large epigastric mass （8 cm × 4 cm） involving the lesser curvature of the stomach, in contact with the pancreas and gallbladder. Fatty areas within the mass were evident. A total gastrectomy together with cholecystectomy was performed. The histopathological diagnosis was a well differentiated liposarcoma. The patient did not undergo any adjuvant treatment, he is under close follow up and two years later he is disease free. We report this case due to the rarity of this tumor in the stomach （nine cases reported in the literature）.     

Giant metastatic cardiac and abdominal liposarcomas causing hemodynamic deterioration

Myxoid liposarcoma usually develops in the retroperitoneum or deep soft tissues of extremities. Synchronous cardiac and abdominal metastases are extremely rare. We describe the case of a 63-year-old man, with a history of a thigh liposarcoma, treated by resection, chemotherapy and postoperative radiotherapy 13 years ago. Patient now presented with an intracardial, a pericardial and an abdominal mass, identified as metastatic myxoid liposarcomas. He eventually underwent successful emergency sternotomy and subsequent laparotomy for tumor resection.     

Familial risk for soft tissue tumors: a nation-wide epidemiological study from Sweden

Purpose Reliable data on familial risks are important for clinical counseling and cancer genetics. However, population-based studies on familial soft tissue tumors are limited, which we will examine. Methods Adjusted standardized incidence ratios (SIRs), calculated from the nation-wide Swedish Family Cancer Database, were used to measure the familial risk. Results There were 17 offspring-parent pairs with concordant soft tissue tumuors, the SIR was increased but not significant. Offspring soft tissue tumors were associated with paternal prostate and endocrine gland tumors and Hodgkin’s disease. Offspring myxosarcoma was associated with paternal endocrine gland tumors. Offspring fibrosarcoma was associated with parental stomach cancer and liposarcoma was associated with parental bladder cancer and maternal breast cancer. Leiomyosarcoma was associated with maternal breast cancer. The associations of myxosarcoma with melanoma and liposarcoma with non-Hodgkin’s lymphoma were noted among siblings. Conclusions The present study showed that familial clustering of soft tissue tumors was limited to specific subtypes. Because of multiple comparisons, some of observed associations may be negative. Aggregation of melanoma and myxosarcoma among siblings may suggest Werner syndrome. A very small proportion of soft tissue sarcomas may be explained by Li–Fraumeni syndrome. Other novel associations, such as offspring liposarcoma with parental bladder cancer, and liposarcoma and non-Hodgkin’s lyhphoma among siblings, may be related to other unidentified familial diseases.     

Extranodal T-cell lymphoma mimicking malignant histiocytosis

We report a case of extranodal T-cell lymphoma with fever, hepatosplenomegaly, pancytopenia, and diffuse sinusoidal infiltration of the spleen, liver, and bone marrow by the tumor cells, mimicking malignant histiocytosis. This is the second case of T-gamma (T-cell suppressor) lymphoma resembling the case reported by Kadin et al. [N Engl J Med 304:648, 1981]. The lack of lymph node involvement in this case supports the theory that this type of lymphoma arises in the spleen. This paper draws attention to the extranodal T-cell lymphoma groups that mimic malignant histiocytosis and the need of immunophenotyping for a correct diagnosis. The causes for the absence of T-cell receptor gene rearrangement in T-cell tumors are discussed.     

Cardiac hemangioma: a report of two cases and review of the literature

Cardiac hemangioma is extremely rare. We encountered two patients with cardiac hemangioma detected by thoracic echocardiography during a medical checkup. In the first case, transthoracic echocardiography revealed a pedunculated tumor in the left ventricle. Selective left coronary angiography demonstrated that the main feeding artery of the tumor arose from the third diagonal branch of the left anterior descending coronary artery. In the second case, thoracic and transesophageal echocardiography showed an oval tumor arising from the right atrium. Both tumors were successfully resected. Histopathological examination revealed that one of the tumors was a capillary hemangioma and the other was a mixed capillary and cavernous hemangioma. After operation, both patients had an uneventful recovery without any complications.