Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myxoid liposarcomas harbor a unique and specific t(12;16)(q13,p11) chromosomal translocation. The breakpoint has recently been identified, and involvement of the TLS/FUS gene on chromosome 16 and the CHOP gene on chromosome 12 was demonstrated. We report a case of a 45-year-old woman who developed multiple malignant lipomatous tumors of unknown origin and myxoid/round cell histology at different locations. To examine the diagnostic potential of this translocation and to develop a hypothesis on the origin of the tumors, we used cytogenetic and molecular cytogenetic methods (reverse transcription polymerase chain reaction, RT-PCR). We identified a chimeric RNA transcript in the second recurrence in the thigh/groin, as well as in another tumor in the mediastinum, which has an additional sequence of 33 bp, known as fusion transcript type III. Cytogenetic analysis of another tumor in retroperitoneal space revealed a rare type of unbalanced translocation der(16)t(12;16). We hypothesize that these tumors are metastases rather than multicentric tumors. The detection of the chimeric message in the present case is not only useful for differential diagnosis, but also for analyzing the origin of multiple neoplasms.
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PMID:A rare chimeric TLS/FUS-CHOP transcript in a patient with multiple liposarcomas: a case report. 1034 49

Due to modern examination techniques such as multidetector computed tomography and high-field magnetic resonance imaging, the detection rate of renal neoplasms is continually increasing. Even though tumors exceeding 4 cm in diameter rarely metastasize, all renal lesions that are possible neoplasms should be treated. Traditional treatment techniques include radical nephrectomy or nephron-sparing resection, which are increasingly performed laparoscopically. Modern thermal ablation techniques such as hyperthermal techniques like radiofrequency ablation RFA, laser induced thermal ablation LITT, focused ultrasound FUS and microwave therapy MW, as well as hypothermal techniques (cryotherapy) may be a useful treatment option for patients who are unfit for or refuse surgical resection. Cryotherapy is the oldest and best known thermal ablation technique and can be performed laparoscopically or percutaneously. Since subzero temperatures have no antistyptic effect, additional maneuvers must be performed to control bleeding. Percutaneous cryotherapy of renal tumors is a new and interesting method, but experience with it is still limited. Radiofrequency ablation is the most frequently used method. Modern probe design allows volumes between 2 and 5 cm in diameter to be ablated. Due to hyperthermal tract ablation, the procedure is deemed to be safe and has a low complication rate. Although there are no randomized comparative studies to open resection, the preliminary results for renal RFA are promising and show RFA to be superior to other thermal ablation techniques. Clinical success rates are over 90 % for both, cryo- and radiofrequency ablation. Whereas laser induced thermal therapy is established in hepatic ablation, experience is minimal with respect to renal application. For lesions of more than 2 cm in diameter, additional cooling catheters are required. MR thermometry offers temperature control during ablation. Microwave ablation is characterized by small ablation volumes and plays a role as a coagulation tool during resection. Focused ultrasound is the only non-invasive method, but it is still experimental.
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PMID:[Percutaneous thermal ablation of renal neoplasms]. 1633 85

Low-grade fibromyxoid sarcomas are uncommon deep soft tissue neoplasms first described by Evans in 1987. They exhibit a deceptively benign appearance, with a whorled or linear arrangement of spindle-shaped cells showing few to absent mitoses. A characteristic, but not specific, feature is the presence of areas of myxoid stroma. Recurrences are common, and late metastases have been recorded. A closely related but morphologically distinct tumor, the so-called hyalinizing spindle cell tumor with giant rosettes, has also been described; both neoplasms share the same cytogenetic abnormality, a balanced translocation resulting in a FUS/CREB3L2 fusion gene. Because of similar clinical behavior and the common cytogenetic abnormality, some authors prefer to consider both lesions as a single entity within the spectrum of low-grade sarcomas.
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PMID:Low-grade fibromyxoid sarcoma: a brief review. 1694 25

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor of low malignant potential and uncertain differentiation. Only three genetically investigated cases of AFH have been reported. Two of them displayed a FUS-ATF1 fusion gene and one showed an EWSR1-ATF1 chimera. Using RT-PCR analysis, we have identified the EWSR1-ATF1 fusion transcript, and delineated the genomic breakpoints, in two new cases of AFH. Previously, the EWSR1-ATF1 fusion protein has been suggested to activate expression of the MITF-M transcript, and therefore the expression pattern of the MITF gene was studied. The MITF-M transcript was not detected in either AFH, in line with the finding that the co-activator SOX10 was not expressed. Thus, of the five AFH that have been molecularly analyzed to date, two have displayed a FUS-ATF1 fusion gene and three have shown an EWSR1-ATF1 chimera. There is no apparent correlation between the type of fusion gene and clinicopathologic features. Nonetheless, RT-PCR for these fusion transcripts remains a valuable diagnostic adjunct in the distinction between AFH and other soft tissue tumors or metastases that may simulate it.
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PMID:Fusion genes in angiomatoid fibrous histiocytoma. 1718 28

MRgFUS (MR guided Focused Ultrasound) being one of the non-surgical ablation techniques. We have already achieved favorable results in the past clinical study of MRgFUS to local treatment. New twenty one cases of invasive/noninvasive ductal carcinoma of the breast were treated by MRgFUS. Core needle biopsy led to the definitive diagnosis. All the patients were positioned prone in the treatment, using the therapeutic apparatus such as Signa Excite 1.5 T for MRI and ExAblate 2000 version 2.6/4.1 for FUS. Irradiation was not applied to all the 21 cases after MRgFUS. Axillary lymph node metastases were examined by dissection or sentinel lymph node biopsy. Recurrence or abnormal area of residual cancer was treated with Re-MRgFUS or ablated by usual surgery. All the 21 cases were from women patients. Median age is 54 years (range: 34-72). Median diameter of tumor is 15 mm (range: 5-50). As for the numbers of treatment, 17 patients were treated once, and 4 patients twice. Median period of observation is 14 months (range: 3-26). One case of recurrence of pure mucinous carcinoma was experienced. No evidences of recurrence were obtained through MRI for the rest of 20 cases. Skin burns were found in 2 cases. The patient had dimple on the skin immediately above tumor. In conclusion, MRgFUS is a good mean as local control of breast cancer, but the indicated case must be selected strictly. And it needs to observe longer the patients who ware treated by MRgFUS alone.
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PMID:The evolving non-surgical ablation of breast cancer: MR guided focused ultrasound (MRgFUS). 1724 95

The clinical course of myxoid/round cell liposarcoma (MRCL) is characterized by frequent local recurrences and metastases at unusual sites. MRCLs carry specific translocations, t(12;16) or rarely t(12;22), linking the FUS or the EWSR1 gene with the DDIT3 gene, respectively. Nine FUS/DDIT3 and three EWSR1/DDIT3 variants of fusion transcripts have been described thus far. In search of prognostic markers for MRCL, we analyzed the translocation types of 31 patients and related them to the event free and overall survival. Using break-apart FISH and RT-PCR combined with DNA sequencing, we detected FUS/DDIT3 fusions in 30 sarcomas, while an EWSR1/DDIT3 translocation was identified in one tumor. FUS/DDIT3 type II (exons 5-2) was most commonly detected (20 cases), followed by type I (7-2) (7 cases) and type III (8-2) (3 cases). A single tumor carrying a t(12;22) translocation expressed a hitherto unknown EWSR1-DDIT3 fusion transcript (13-3) linking the complete RNA-binding domain of EWSR1 with a short piece of the 5'-UTR and the entire open reading frame of the DDIT3 gene. Interestingly, five of six patients with type I (7-2) FUS/DDIT3 fusions displayed local recurrences and/or metastatic spread within the first 3 years, generally requiring chemotherapeutical treatment (median disease-free survival 17 months). In contrast, 9 of 13 patients with type II FUS/DDIT3 translocations remained at 3 years disease-free (median disease-free survival 75 months). Since the total number of patients is still limited, further studies are required to verify a putative association of type I FUS/DDIT3-fusion transcripts with a prognosis of MRCL.
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PMID:Relevance of translocation type in myxoid liposarcoma and identification of a novel EWSR1-DDIT3 fusion. 1764 82

Liposarcomas typically occur in middle aged to older adults. Altogether, approximately 50 bona fide liposarcomas have been reported in children and adolescents, most of which have represented myxoid liposarcomas, with a good prognosis. We undertook a retrospective study of 82 liposarcomas occurring in patients below 22 years of age. Clinicopathologic and follow-up information was obtained. Fluorescence in situ hybridization for FUS, EWSR1, CHOP (DDIT3), and MDM2 was performed in 30 cases. The tumors occurred in 28 males and 54 females (5 to 22 y of age) and involved many locations. Fifty-six cases were typical myxoid liposarcomas, including 2 with round cell areas. The tumors were grade 1 (56 cases) and grade 3 (2 cases). Thirty-seven of 38 patients with follow-up are alive without disease and 1 is alive with disease (median 59 mo follow-up duration, range: 8 to 108 mo). Six cases showed myxoid liposarcoma with spindled growth ("spindle cell myxoid liposarcoma"); these arose in 5 females and 1 male (median age 14 y) and involved the thigh in 40% of cases. All were grade 1. Follow-up (4 of 6 patients) showed local recurrences in 2 cases and metastases in 1 case. Twelve tumors consisted of conventional myxoid liposarcoma and pleomorphic liposarcoma ("pleomorphic myxoid liposarcoma"); these arose in 4 males and 8 females (10 to 22 y of age) and often involved the mediastinum. Tumor grades were 2 (4 cases) and 3 (8 cases). Follow-up (10 patients) showed 7 dead of disease, 1 alive with disease, and 2 disease free. Four atypical lipomatous tumors were seen including 2 with low-grade dedifferentiation. Two local recurrences were seen; all patients are disease free. Two conventional pleomorphic liposarcomas were seen; 1 patient with follow-up is disease free. FUS-CHOP and EWSR1-CHOP rearrangements were identified by fluorescence in situ hybridization in 15/23 and 2/23 conventional myxoid liposarcomas, respectively, and in no other tumors. Amplification for MDM2 was absent in all cases. We conclude that conventional myxoid liposarcoma is by far the most common subtype of liposarcoma in young patients, with an excellent prognosis. Two apparently novel subtypes of liposarcoma, termed pleomorphic myxoid liposarcoma and spindle cell myxoid liposarcoma comprise considerable percentages of liposarcomas in this age group and should be distinguished from conventional myxoid liposarcoma and conventional pleomorphic liposarcoma. Pleomorphic myxoid liposarcoma and spindle cell myxoid liposarcoma most likely represent high-grade and low-grade variants of myxoid liposarcoma, respectively. Additional study of such cases will be necessary for definitive classification.
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PMID:Liposarcomas in young patients: a study of 82 cases occurring in patients younger than 22 years of age. 1919 81

Low-grade fibromyxoid sarcoma (LGFMS) is a rare neoplasm that commonly arises in the deep soft tissues of the lower extremities, particularly in the thigh. LGFMS occurs preferentially in young male adults. The microscopic appearance of LGFMS exhibits bland fibroblastic spindle cells with a whorled or linear arrangement in fibrous and myxoid areas. Although LGFMS has a deceptively benign histologic appearance, local recurrence and late metastases have frequently been reported. Diagnosis of LGFMS is still difficult because of its characteristic bland-looking histologic features that can be confused with other benign or low-grade fibromyxoid lesions. Although immunohistochemical staining can offer an overview of the differential diagnosis of myxoid tumors of soft tissue, it is sometimes limited for diagnosis of LGFMS. However, recent cytogenetic and molecular analyses have provided significant improvements in the diagnosis of LGFMS. Such analyses have demonstrated that most cases of LGFMS have a characteristic t(7,16)(q33;p11) translocation, resulting in the FUS-CREB3L2 fusion gene. We report a 29-year-old female who presented with a LGFMS located in the soleus muscle of her left lower leg. Preoperative imaging suggested the possibility of an intramuscular histiocytoma of the left soleus muscle. In conclusion, diagnosis of LGFMS can be challenging in routine practice in surgical pathology because of its bland-looking features. The immunohistochemical and ultrastructural findings were consistent with the fibroblastic properties of LGFMS. Cytogenetic and/or molecular genetic analyses can be used as ancillary diagnostic tools for LGFMS.
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PMID:Intramuscular low-grade fibromyxoid sarcoma: a case report. 1960 40

Low-grade fibromyxoid sarcoma (LGFMS) is a rare, low-grade malignant soft tissue tumor that is often mistaken for either benign or more malignant tumor types. Commonly, this tumor affects young adults and typically arises in the deep proximal extremities or trunk with frequent recurrences and can metastasize to the lungs many years later. Most cases have a recurrent balanced translocation involving chromosomes 7 and 16, t(7;16)(q32-34;p11), which leads to the fusion of the FUS and CREB3L2 genes. However, supernumerary ring chromosomes have been identified in a subset of FUS/CREB3L2-positive LGFMS, but it has not yet been formally demonstrated that such ring chromosomes harbor the FUS/CREB3L2 fusion gene. Here, we report the genetic findings of a supernumerary ring chromosome from an LGFMS from a 77-year-old man. Chromosome banding analysis revealed a supernumerary ring chromosome, and further studies with fluorescence in situ hybridization and reverse transcriptase-polymerase chain reaction (RT-PCR) showed that the ring contained material from chromosomes 7 and 16, that the FUS gene was present in two rearranged copies, and that it expressed the FUS/CREB3L2 fusion gene. Moreover, an assessment of previously reported cases showed that tumors with ring chromosomes relapsed more often than tumors with a balanced t(7;16), suggesting that ring formation in LGFMS is correlated with tumor progression.
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PMID:Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcoma. 2047 19

Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue tumor that typically involves the deep soft tissues of the extremities. However, LGFMS has been described in other locations including the head and neck, retroperitoneum, and mesentery. Translocations involving the FUS gene located at 16p are considered to be highly specific for the diagnosis of this tumor when present in conjunction with the appropriate morphologic appearance. We report 4 cases of LGFMS arising in the small bowel. The patients' ages (3 female, 1 male) ranged from 52 to 71 years (median, 61 y). None of the patients had a history of soft tissue sarcoma. An intramural tumor was presented in all cases, ranging from 4.5 to 14.5 cm in greatest diameter (mean, 10 cm). Microscopically, the tumors consisted of an admixture of hypocellular, heavily collagenized zones and more cellular myxoid nodules, containing a greater number of neoplastic cells arranged around characteristic curvilinear vessels. By immunohistochemistry, all tumors were positive for vimentin and negative for smooth muscle actin, CD117, CD34, and S100 protein. Fluorescence in situ hybridization for rearrangement of the FUS locus at 16p11 was positive in 3 informative cases. Follow-up information was available in 3 cases; 2 patients are alive without disease and another patient died of disease. We conclude that LGFMS should be included in the differential diagnosis of fibrous or myxoid spindle cell tumors of the gastrointestinal tract. On the basis of limited follow-up, the natural history of enteric LGFMS seems to be similar to that of LGFMS in other locations, with potential for late metastases.
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PMID:Low-grade fibromyxoid sarcoma of the small intestine: report of 4 cases with molecular cytogenetic confirmation. 2167 41


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