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PubMed2006

A novel EWS-WT1 gene fusion product in desmoplastic small round cell tumor is a potent transactivator of the insulin-like growth factor-I receptor (IGF-IR) gene.

Desmoplastic small round cell tumor (DSRCT) is a primitive sarcoma characterized by a recurrent chromosomal translocation, t(11;22)(p13;q12), which fuses the 5' exons of the EWS gene to the 3' exons of the WT1 gene. EWS-WT1 chimeras are heterogeneous as a result of fusions of different regions of the EWS gene to the WT1 gene. We report here a rare and novel EWS-WT1 variant, EWS-WT1 5/10, in a 6-year-old boy diagnosed with DSRCT and analyze the potential transactivation effect of the fusion oncoprotein. The predicted product is comprised of the N-terminal transactivation domain of EWS and lacks any sequence derived from the WT1 gene product. Nonetheless, the truncated protein was able to stimulate expression of the insulin-like growth factor-I receptor gene, a potent antiapoptotic receptor tyrosine kinase with potentially important roles in DSRCT etiology. These findings raise the possibility that the oncogenic potential of EWS-WT1 fusions is not necessarily a consequence of the fusion protein product per se.

Child↗
PubMed1990

Soft-tissue tumors of the foot: value of MR imaging for specific diagnosis.

We reviewed MR imaging findings in 14 patients with primary soft-tissue tumors of the foot and compared them with surgical and pathologic findings to determine the value of MR imaging in anatomic localization, delineation, and characterization of such lesions. Nine tumors (64%) were benign, and five (36%) were malignant. The anatomic location (compartment, space, relation to specific tendon) and extent of all tumors were accurately shown by MR imaging. Twelve tumors (86%) were correctly characterized as benign or malignant. Eight (89%) of nine benign lesions showed distinctive MR imaging features that correctly suggested a specific diagnosis. These included hemangioma (high T2-weighted intensity and internal septa), ganglion cyst (homogeneous, high T2-weighted weighted intensity and peritendinous location), plantar fibromatosis (nodularity of plantar aponeurosis with low intensity on all sequences), and pigmented villonodular synovitis (low T2-weighted intensity and lower intensity rim). Aggressive fibromatosis (one case) could not be characterized. Four (80%) of five malignant neoplasms had MR imaging findings suggesting soft-tissue sarcoma. Two synovial sarcomas were inhomogeneous and showed extensive peritendinous growth. Two clear cell sarcomas arose at the origin of the plantar aponeurosis and infiltrated adjacent muscle. A small clear cell sarcoma could not be characterized as benign or malignant. MR imaging of the foot is accurate in showing the extent of soft-tissue tumors, which is helpful for surgical planning. Determination of their specific anatomic location may help characterize some tumors. Although our series is small, it appears that MR imaging often suggests a specific diagnosis in certain benign soft-tissue tumors of the foot and may often correctly distinguish benign from malignant tumors.

Adolescent↗
PubMed1996

Cytogenetics and tissue culture of small round cell tumors of bone and soft tissue.

The variety of tumor-specific cytogenetic and genetic alterations among small round cell tumors (Ewing family of tumors, rhabdomyosarcoma, neuroblastoma, and lymphoma) increases the possibility of genotypic diagnosis of them. In Ewing's sarcoma and related peripheral primitive neuroectodermal tumors, a (11;22)(q24;q12) translocation is associated with hybrid transcripts of the EWS gene with the FLIl gene. In alveolar rhabdomyosarcoma, a (2;13)(q35;qt4) translocation is associated with a chimeric gene between PAX3 and FKHR. Specific genetic alterations of the short arm of chromosome 1 and amplification of the MYCN gene are diagnostically useful in neuroblastomas as the immunoglobulin or T-cell receptor gene rearrangements and chromosome translocations in lymphomas. Thus, cytogenetics and genetics provide an essential adjunct to diagnostic surgical pathology in the case of small round cell tumors, which often present substantial diagnostic challenges. Likewise, in vitro culture studies represent another approach in determining histogenetic origin, novel genes, novel mechanisms of gene dysregulation, and the biological characteristics of small round cell tumors.

Bone Neoplasms↗
PubMed2006

Synchronous interdigitating dendritic cell sarcoma and B-cell small lymphocytic lymphoma in a lymph node.

A gradually enlarging axillary mass in a 79-year-old man was excised. The specimen was processed for light microscopy, immunohistochemical studies, and electron microscopy; gene rearrangement studies were also performed. A diagnosis of an interdigitating dendritic cell tumor of the lymph node and a B-cell small lymphocytic lymphoma occurring in the same anatomic location was made. We found that although rare cases of interdigitating dendritic cell tumor with an associated secondary malignancy have been described in the literature, to our knowledge, this is the first report of interdigitating dendritic cell tumor and synchronous neoplasm diagnosed at the same site. A possible relationship between the 2 disorders is also discussed.

Aged↗
PubMed2004

Utility of the immunohistochemical detection of FLI-1 expression in round cell and vascular neoplasm using a monoclonal antibody.

FLI-1 nuclear transcription factor has been proposed as a useful tool in the differential diagnosis of small round cell sarcomas. Recently, FLI-1 has been reported as the first nuclear marker of endothelial differentiation. However, its clinical use has been hampered by major interpretation problems, due to the presence of background staining as well as staining variation between different lots of the same antiserum. In this study, a novel monoclonal antibody raised against the carboxyl terminal of the FLI-1 protein (clone GI146-222, BD Pharmingen) was tested in a series of small round cell and vascular neoplasms. Furthermore, in order to assess FLI-1 specificity, we analyzed its expression in a series of common epithelial and nonepithelial malignancies. In total, 15 Ewing's sarcomas, 10 rhabdomyosarcomas, 5 desmoplastic small round cell tumors, 10 synovial sarcomas, 10 high-grade pleomorphic sarcomas, 10 malignant melanomas, 5 Merkel's carcinomas, 10 colonic adenocarcinomas, 10 breast carcinomas, 10 lung adenocarcinomas, 20 angiosarcomas, 5 epithelioid hemangioendotheliomas, 10 Kaposi's sarcomas and 10 benign hemangiomas, were stained. A strong FLI-1 immunoreactivity was detected in all Ewing's sarcomas and vascular neoplasms, highlighting the high sensitivity of FLI-1 monoclonal antibody. However, 2/5 Merkel's carcinomas and 1/10 malignant melanomas showed a strong nuclear immunostaining, suggesting that FLI-1 may not be so helpful in the differential diagnosis of cutaneous Ewing's sarcoma. In addition, a weak immunoreactivity was found in 3/5 Merkel cell carcinomas, 3/10 synovial sarcomas, 5/10 malignant melanomas, 6/10 lung adenocarcinomas and in 1/10 breast carcinomas. In contrast, all the rhabdomyosarcomas, desmoplastic small round cell tumors, high-grade pleomorphic sarcomas and colonic adenocarcinomas tested were negative. Importantly, in contrast with previous studies, no background staining was observed. Our results indicate that FLI-1 monoclonal antibody can be reliably applied to the differential diagnosis of small round cell neoplasms of soft tissue, and confirm its important role as nuclear marker of endothelial differentiation, mainly helpful in those cases in which technical artifacts are seen by using the traditional membranous and cytoplasmic endothelial markers.

Antibodies, Monoclonal↗
PubMed1992

No alterations in exon 21 of the RB1 gene in sarcomas and carcinomas of the breast, colon, and lung.

Studies of mutant genotypes of the retinoblastoma susceptibility gene (RB1) in different solid tumors have mainly been concentrated on the demonstration of loss of heterozygosity (LOH) at both internal and external polymorphic sites. One reason for this is the complex organization of the gene. The p105RB protein has been shown to interact with both DNA and regulatory cellular proteins and oncoproteins. The amino acids encoded by exon 21 are implicated in several of these interactions. Both point mutations and intragenic deletions involving exon 21 have previously been reported in human tumors. We have examined RB1 exon 21 from a number of human tumor types where significant LOH in or around the RB1 gene has been reported. DNA from 78 primary tumors was amplified using the polymerase chain reaction (PCR) with primers covering exon 21, followed by constant denaturant gel electrophoresis (CDGE). The 78 tumors included 11 breast carcinomas, 30 nonsmall cell lung carcinomas, 6 colon carcinomas, and 31 sarcomas. The small cell lung cancer cell line NCI-H209, previously shown to harbour a point mutation in codon 706: TGT- greater than TTT (Cys- greater than Phe), was detected using CDGE. Apart from this control mutant cell line, we did not detect any mutations in the examined region in any of the tumors.

Base Sequence↗
PubMed2003

UQCRH gene encoding mitochondrial Hinge protein is interrupted by a translocation in a soft-tissue sarcoma and epigenetically inactivated in some cancer cell lines.

We previously reported the identification of a novel zinc-finger gene, designated ZSG, fused to Ewing sarcoma gene (EWS) by a submicroscopic paracentric inversion of 22q12 in a small round cell sarcoma presenting a translocation t(1;22)(p34;q12). We report here the molecular cloning and characterization of the breakpoint in 1p34, which encompasses the gene coding for mitochondrial Hinge protein ubiquinol-cytochrome C reductase hinge gene (UQCRH). All the three breakpoints, two on 22q12 and one in 1p34, interrupt different genes: EWS, ZSG and UQCRH. We determined the genomic structure of UQCRH, characterized its splicing variants and identified a transcribed processed pseudogene. The analysis of UQCRH expression in normal tissues and cancer cell lines revealed absent expression of UQCRH in two ovarian and one breast cancer cell lines and reduced expression in a further breast carcinoma cell line. CpG island methylation upstream exon 1 was detected in all the three cell lines with absent expression. Moreover, treatment with demethylating agent 5-azacytidine restored UQCRH expression in OAW42 ovarian cancer cells. These data provide preliminary evidence of the inactivation of UQCRH gene in cancer either by structural rearrangements or epigenetic mechanisms.

Antineoplastic Agents↗
PubMed1996

Predictors of survival in malignant tumors of the sternum.

From 1930 to 1994, 54 patients with primary malignant tumors of the sternum were seen. Fifty patients were first seen with a mass, and one half of them also had pain in the sternal region. Two patients had no symptoms at presentation. Among 39 solid tumors were 26 chondrosarcomas, 10 osteosarcomas, 1 fibrosarcoma, 1 angiosarcoma, and 1 malignant fibrous histiocytoma. Of these, 25 were low-grade and 14 were high-grade tumors. Among 15 small cell tumors were 8 plasmacytomas, 6 malignant lymphomas, and 1 Ewing's sarcoma. Partial or subtotal sternectomy was done in 37 patients and total sternectomy in 3. Of the remaining 14 patients, 3 had local excision; 10 had external radiation or chemotherapy without operation, or both; and 1 had no treatment. All but one patient treated by wide resection (N = 40) had some form of skeletal reconstruction of the chest wall defect. Thirty-one (78%) underwent repair with Marlex mesh, and in 25 this was combined with methyl methacrylate. The skin edges were closed per primum in 32 patients; 8 required muscle, omentum, or skin flaps. Resection in chondrosarcomas yielded a 5-year survival (Kaplan-Meier) of 80% (median follow-up, 17 years). The 5-year survival in osteosarcomas was 14%. Resection was curative in 64% of low-grade sarcomas but in only 7% of high-grade sarcomas. In small cell tumors, resection and radiation were helpful for local control; all failures were a result of distant metastases. We conclude that primary sarcomas of the sternum though uncommon are potentially curable by wide surgical excision. With rigid prostheses to repair the skeletal defects, the surgical complication rates are low. Overall survival after complete surgical resection is related to tumor histologic type and grade.

Bone Cements↗
PubMed2005

A general aspect on soft-tissue sarcoma and c-kit expression in primitive neuroectodermal tumor and Ewing's sarcoma. Is there any role in disease process?

OBJECTIVE: Within soft-tissue sarcoma, primitive neuroectodermal tumors have been shown to cover a wide spectrum of small round cell sarcomas, including Ewing's sarcomas (ES) and primitive neuroectodermal tumors (PNET). The role of the stem cell factor/kit pathway has been investigated in different human tumors especially in chronic myelocytic leukemia and gastrointestinal stromal tumor and an autocrine loop has been assumed in small cell lung carcinoma, and recently in ES and PNET. Our aim is to investigate the c-kit expression in ES and PNET and also to assessed if c-kit has any role in disease process. METHODS: We thoroughly searched the archives of the Department of Pathology, Faculty of Medicine, Cukurova University Turkey, between 2000 and 2004; and found 14 ES and 14 PNET paraffin embedded tissues. We carried out the detection of the c-kit expression by immunohistochemical staining. RESULTS: The patient's median age was 23.7 +/-14.6 (12 male and 16 female). Five were diagnosed as metastatic disease whereas 23 were diagnosed as non-metastatic disease at admission. The mean follow up period was 38.9 +/- 22.3 months. The main localization of the disease was lower extremity (32.1%), and others were as follows: head and neck 25%, thorax and abdomen 14.3%, pelvic and upper extremity 7.1% (11 were localized skeletal and 17 were extraskeletal). According to treatment modalities, 10 were treated with surgery alone, 11 with surgery and chemotherapy, and 7 with surgery, radiation therapy and also with chemotherapy. The primary tumor was lower than 5 cm in its dimension in 21 patients. While in 5 patients, tumor was more than 5 cm but did not exceed 10 cm, it was >10 cm in 2 patients. The c-kit expression was positive in 7 patients both cytoplasmic and membranously, whereas 8 patients were positive cytoplasmically. In 5 PNET patients, c-kit expression were stained immunohistochemically in over 50% and in 3 of ES patients. There was no significant correlation between c-kit expression and gender, localization, metastatic status, treatment modalities and tumor. Although in survival analysis, patients treated with surgery alone lived longer, while >50% of patients treated with c-kit expression lived for a shorter period. CONCLUSION: We suggest that therapy with tyrosine kinase inhibitor for PNET and ES patients may be an alternative in addition to standard therapy modalities, especially in patients non-responsive to standard therapy.

Adolescent↗
PubMed1996

Soft tissue small round cell tumors: morphological parameters.

Soft tissue small round cell tumors (SRCTs) comprise a heterogeneous group of neoplasms that predominate in childhood and adolescence and share similar morphological features, consisting of dense cellular proliferation of small round cells with a primitive appearance. Rhabdomyosarcomas, peripheral neuroepitheliomas, Ewing's sarcomas, and lymphomas/leukemias are the prototypic SRCT; other recently described tumors that should be added to the list are the desmoplastic SRCT and the rhabdoid tumor of soft tissues. In addition, several other primary soft tissue neoplasms and metastatic tumors have occasionally been considered in the differential diagnosis of SRCT. The precise identification of a given SRCT is important because of its clinical relevance. However, it may be difficult because the diagnostic criteria are sometimes subtle and several histologic and immunohistochemical features are not specific and/or may be simulated by different tumor types. We discuss the morphological clues that in our opinion are most useful for their diagnosis, the criteria for distinguishing between peripheral neuroepithelioma and Ewing's sarcoma, and the main diagnostic pitfalls.

Diagnosis, Differential↗
PubMed2001

Identification of syt-ssx fusion transcripts in both epithelial and spindle cell components of biphasic synovial sarcoma in small tissue samples isolated by membrane-based laser microdissection.

In order to confirm the presence of SYT-SSX fusion gene in epithelial and spindle cell components of synovial sarcoma, we performed a nested reverse transcriptase-polymerase chain reaction (RT-PCR) using microbeam microdissection of membrane-mounted native tissue (MOMeNT) technique applied on formalin-fixed, paraffin-embedded tumor specimens from two biphasic synovial sarcomas and a control tissue of adamantinoma. Small targeted portions of either an epithelial or spindle cell component of the tumor tissue were microdissected together with the supporter membrane, by using an ultraviolet (337-nm) pulsed laser microbeam coupled into a robot-stage microscope with infinity optics. The SYT-SSX fusion transcript was detected in epithelial and spindle cell components of both biphasic synovial sarcomas, but not in the control tissue. Southern blot analysis also confirmed that the detected messages were derived from the SYT-SSX fusion gene. In conclusion, the microbeam MOMeNT is a useful method for isolating selected small portions from tissue sections. The SYT-SSX fusion gene is present in both cellular components of biphasic synovial sarcoma and is involved in oncogenesis of the synovial sarcoma rather than in morphologic epithelial differentiation. Therefore, in spite of the variable proportions of each component, our results confirm that the synovial sarcoma is of monoclonal origin.

Adult↗