Showing papers on "Clear-cell sarcoma published in 2012"

Tumors With EWSR1-CREB1 and EWSR1-ATF1 Fusions: The Current Status

Abstract: EWSR1-CREB1 and EWSR1-ATF1 are gene fusions of which one or both have now been consistently described in 5 histopathologically and behaviorally diverse neoplasms: angiomatoid fibrous histiocytoma, conventional clear cell sarcoma (of tendons and aponeuroses), clear cell sarcoma-like tumor of the gastrointestinal tract, hyalinizing clear cell carcinoma of the salivary gland, and primary pulmonary myxoid sarcoma. Some of the tumors in this group have been described only recently, and others have been the subject of recent genetic insights contributing to their characterization. These neoplasms are all rare; yet, the increasing frequency with which EWSR1-CREB1 and EWSR1-ATF1 fusions are being described in separate entities is noteworthy. The additional molecular mechanisms by which tumors with such variable morphologic, immunohistochemical, and clinical phenotypes are generated are yet to be understood. We review the clinicopathologic and molecular features of this group of neoplasms unified by the presence of EWSR1-CREB1 and EWSR1-ATF1 genetic fusions.

Malignant gastrointestinal neuroectodermal tumor: Clinicopathologic, immunohistochemical, ultrastructural, and molecular analysis of 16 cases with a reappraisal of clear cell sarcoma-like tumors of the gastrointestinal tract

Abstract: The clinical, histologic, immunophenotypic, ultrastructural, and molecular features of a distinctive gastrointestinal tumor are described. Sixteen patients, 8 women and 8 men aged 17 to 77 years (mean age, 42 y; 63% less than 40 y) presented with abdominal pain, intestinal obstruction, and an abdomi

Clear cell sarcoma (malignant melanoma) of soft parts: a clinicopathologic study of 52 cases.

Abstract: Clear cell sarcomas are aggressive, rare soft tissue tumors and their classification among melanoma or sarcoma is still undetermined due to their clinical, pathologic, and molecular properties found in both types of tumors. This is a retrospective study of 52 patients with CCS seen between April 1979 and April 2005 in two institutions. The EWS-ATF-1 fusion transcript was studied in 31 patients and an activating mutation of the BRAF or NRAS gene was researched in 22 patients. 30 men and 22 women, with a mean age of 33 were studied. Forty-three tumors (82.69%) were located in the extremities, specially the foot (19 tumors). Median initial tumor size was 4.8 cm (1 to 15 cm). Necrosis involving more than 50% of the tumor cells was found in 14 cases (26.92%). High mitotic rate (>10) was found in 25 cases (48.07%). The EWS/ATF-1 translocation was found in 28 (53.84%) of 31 patients studied, and mutation of BRAF or NRAS was found in only 2 of 22 patients analyzed cases (3.84%). Among the tumor-associated parameters, only tumor size (>4 cm) emerged as a significant prognostic factor. Forty-nine patients had a localized disease at diagnosis (94.23%) and underwent surgical resection immediately (90%) or after neoadjuvant chemotherapy (CT) (10%). Various CT regimens were used in 37 patients (71.15%) with no significant efficacy. The 5- and 10-year OS rates were 59% and 41%, respectively. Tumor size was the only emerging prognosis factor in our series. Complete surgical resection remains the optimal treatment for this aggressive chemoresistant tumor.

Management of Soft Tissue Sarcoma

Abstract: Preface Introduction 1. General Description 2. Natural History - Importance of Size, Site, Histopathology 3. General Statement as to Efficacy of Surgery / Chemotherapy / Radiation Therapy Part I. Management by Histopathology - Introduction 4. Gastrointestinal Stromal Tumor (GIST) 5. Liposarcoma 6. Leiomyosarcoma 7. Undifferentiated Pleomorphic Sarcoma (UPS) (Malignant Fibrous Histiocytoma - MFH) / Myxofibrosarcoma 8. Synovial Sarcoma 9. Malignant Peripheral Nerve Sheath Tumor (MPNST) / Triton Tumor 10. Desmoid Tumor / Deep-Seated Fibromatosis (Desmoid-type Fibromatosis) 11. Solitary Fibrous Tumor / Hemangiopericytoma 12. Fibrosarcoma and its Variants 13. Vascular Sarcomas 14. Epithelioid Sarcoma 15. Sarcomas more Common in Children 16. Radiation Induced Sarcoma 17. Alveolar Soft Part Sarcoma 18. Clear Cell Sarcoma / Melanoma of Soft Parts 19. Desmoplastic Small Round Cell Tumor 20. Extraskeletal Myxoid Chondrosarcoma 21. Other Uterine Sarcomas 22. Extraskeletal Osteogenic Sarcoma 23. Sustentacular Tumors of Lymph Tissue 24. Uncommon / Unique Sites Part II. Benign and Less Aggressive Lesions - Introduction 25. Mostly Benign / Rarely Metastasizing 26. Benign Tumors 27. Reactive Lesions 10. Desmoid Tumor / Deep-Seated Fibromatosis (Desmoid-type Fibromatosis) 11. Solitary Fibrous Tumor / Hemangiopericytoma 12. Fibrosarcoma and its Variants 13. Vascular Sarcomas 14. Epithelioid Sarcoma 15. Sarcomas more Common in Children 16. Radiation Induced Sarcoma 17. Alveolar Soft Part Sarcoma 18. Clear Cell Sarcoma / Melanoma of Soft Parts 19. Desmoplastic Small Round Cell Tumor 20. Extraskeletal Myxoid Chondrosarcoma 21. Other Uterine Sarcomas 22. Extraskeletal Osteogenic Sarcoma 23. Sustentacular Tumors of Lymph Tissue 24. Uncommon / Unique Sites Part II. Benign and Less Aggressive Lesions - Introduction 25. Mostly Benign / Rarely Metastasizing 26. Benign Tumors 27. Reactive Lesions 2. Natural History - Importance of Size, Site, Histopathology 3. General Statement as to Efficacy of Surgery / Chemotherapy / Radiation Therapy Part I. Management by Histopathology - Introduction 4. Gastrointestinal Stromal Tumor (GIST) 5. Liposarcoma 6. Leiomyosarcoma 7. Undifferentiated Pleomorphic Sarcoma (UPS) (Malignant Fibrous Histiocytoma - MFH) / Myxofibrosarcoma 8. Synovial Sarcoma 9. Malignant Peripheral Nerve Sheath Tumor (MPNST) / Triton Tumor 10. Desmoid Tumor / Deep-Seated Fibromatosis (Desmoid-type Fibromatosis) 11. Solitary Fibrous Tumor / Hemangiopericytoma 12. Fibrosarcoma and its Variants 13. Vascular Sarcomas 14. Epithelioid Sarcoma 15. Sarcomas more Common in Children 16. Radiation Induced Sarcoma 17. Alveolar Soft Part Sarcoma 18. Clear Cell Sarcoma / Melanoma of Soft Parts 19. Desmoplastic Small Round Cell Tumor 20. Extraskeletal Myxoid Chondrosarcoma 21. Other Uterine Sarcomas 22. Extraskeletal Osteogenic Sarcoma 23. Sustentacular Tumors of Lymph Tissue 24. Uncommon / Unique Sites Part II. Benign and Less Aggressive Lesions - Introduction 25. Mostly Benign / Rarely Metastasizing 26. Benign Tumors 27. Reactive Lesions 10. Desmoid Tumor / Deep-Seated Fibromatosis (Desmoid-type Fibromatosis) 11. Solitary Fibrous Tumor / Hemangiopericytoma 12. Fibrosarcoma and its Variants 13. Vascular Sarcomas 14. Epithelioid Sarcoma 15. Sarcomas more Common in Children 16. Radiation Induced Sarcoma 17. Alveolar Soft Part Sarcoma 18. Clear Cell Sarcoma / Melanoma of Soft Parts 19. Desmoplastic Small Round Cell Tumor 20. Extraskeletal Myxoid Chondrosarcoma 21. Other Uterine Sarcomas 22. Extraskeletal Osteogenic Sarcoma 23. Sustentacular Tumors of Lymph Tissue 24. Uncommon / Unique Sites Part II. Benign and Less Aggressive Lesions - Introduction 25. Mostly Benign / Rarely Metastasizing 26. Benign Tumors 27. Reactive Lesions

Discovered on gastrointestinal stromal tumours 1 (DOG1) expression in non‐gastrointestinal stromal tumour (GIST) neoplasms

Abstract: Hemminger J & Iwenofu O H (2012) Histopathology 61, 170–177 Discovered on gastrointestinal stromal tumours 1 (DOG1) expression in non-gastrointestinal stromal tumour (GIST) neoplasms Aims: To further characterize discovered on GIST1 (DOG1) antibody clone K9 expression in a broad range of mesenchymal and epithelial tumours. Methods and results: Formalin-fixed paraffin-embedded sections of various tumours were stained with the anti-DOG1 monoclonal antibody clone K9. The tumours (n = 187) included: gastrointestinal stromal tumours (GISTs) (n = 20); malignant melanoma (n = 19); schwannoma (n = 10); neurofibroma (n = 10); leiomyosarcoma (n = 10); low-grade fibromyxoid sarcoma (n = 5); angiosarcoma, (n = 10); epithelioid sarcoma (n = 5); clear cell sarcoma (n = 3); synovial sarcoma (n = 10); malignant peripheral nerve sheath tumour (MPNST) (n = 12); alveolar soft part sarcoma (n = 3); chordoma (n = 5); pleomorphic undifferentiated sarcoma (n = 5); perineurioma (n = 4); granular cell tumour (n = 6); acinic cell carcinoma (n = 5); adenocarcinoma, lung (n = 5), colon (n = 10), endometrioid (n = 10), prostate (n = 10) and renal cell (n = 10). Nineteen of 20 GISTs expressed DOG-1 and 12 of 20 were diffusely positive (≥95%) with moderate to strong intensity. There was focal, predominantly luminal staining of colorectal (three of 10), endometrioid (four of 10) and acinic cell carcinomas (four of five). One case each of spindle cell/desmoplastic melanoma (2+), schwannoma (trace) and MPNST (2+) showed DOG-1 expression. Conclusions: Our study supports that DOG-1 is a highly sensitive and specific marker for GISTs and also highlights hitherto unrecognized and unusual patterns of expression in non-mesenchymal neoplasms.

Detection of specific genetic abnormalities by fluorescence in situ hybridization in soft tissue tumors.

Abstract: For the detection of chromosome translocations/chimeric genes and specific genetic abnormalities in soft tissue tumors, we conducted fluorescence in situ hybridization (FISH) analysis on 280 cases of soft tissue and other tumors using formalin-fixed paraffin-embedded tissue sections. The detection rate of the FISH split-signal was 84% (129/154 cases) for the translocation-associated soft tissue tumors, such as Ewing's sarcoma/primitive neuroectodermal tumor, synovial sarcoma, alveolar rhabdomyosarcoma, myxoid liposarcoma, clear cell sarcoma and so forth. Positive split-signals from EWSR1, SS18 and FOXO1A probes were detected in 3% (2/64) of various histological types of carcinoma, lymphoma, melanoma, meningioma and soft tissue tumors. In FISH using the INI1/CEP22 probe, the INI1 deletion signal was detected in 100% (9/9) of epithelioid sarcoma. In well-differentiated and dedifferentiated liposarcomas, detection of MDM2 amplification signals in FISH using the MDM2/CEP12 probe were both as high as 85% (11/13) and 100% (13/13), respectively. In other adipocytic and non-adipocytic tumors requiring differentiation from these types, detection was only 13% (5/39), and CEP12 polysomy was frequently detected. As these results demonstrate the high sensitivity and specificity of FISH, we concluded FISH to be a useful pathological diagnostic adjunct for definite and differential diagnosis of soft tissue tumors.

Cutaneous clear cell sarcoma: report of three cases of a potentially underestimated mimicker of spindle cell melanoma.

Abstract: :Clear cell sarcoma is a unique soft tissue tumor with distinct microscopic features that include a nested or fascicular pattern of spindle cells accompanied by larger wreath-like giant cells scattered throughout. It harbors a unique EWSR1-ATF1 gene fusion secondary to a t(12;22)(q13;q12) tr

Intra-abdominal clear-cell sarcoma: a report of 3 cases, including 1 case with unusual morphological features, and review of the literature.

Abstract: Clear-cell sarcoma (CCS) is a soft-tissue neoplasm that morphologically resembles cutaneous malignant melanoma but has a distinct molecular profile. Gastrointestinal and intra-abdominal CCSs are very rare. Here, the authors present 3 cases of intra-abdominal CCS and review the literature. Of these cases, 2 involved the small bowel, and 1 involved the peritoneum. Cases 1 and 3 had the characteristic CCS morphology, but case 2 was morphologically unusual and therefore difficult to diagnose. It had relatively small cells with less prominence of clear cells; many pseudoglandular structures were also present. It also showed aberrant expression of epithelial membrane antigen (EMA). The other 2 cases also involved some diagnostic uncertainty and were therefore referred to specialized centers. The authors wish to emphasize the importance of molecular studies in making a conclusive diagnosis of intra-abdominal CCS.

Sarcoma spreads primarily through the vascular system: are there biomarkers associated with vascular spread?

Abstract: Sarcomas are a heterogeneous group of tumors with specific molecular characteristics and currently classified on the basis of their tissue of origin and histologic appearance. Except for epithelioid sarcoma, clear cell sarcoma, angiosarcoma and rhabdomyosarcoma, which may spread to regional lymph nodes, the other histotypes spread via the vascular system to the lungs most of the time. A variety of molecular approaches, including gene expression profiling, have identified candidate biomarkers and generated insights into sarcoma biology. The comprehension of the pathogenesis of this malignancy according to the mesenchymal stem cell hypothesis parallels the description of several molecular pathways deregulated in sarcoma. Individuation of vascular spread biomarkers is actually focused on the study of factors involved both in hemostasis and angiogenesis. Interestingly the microenvironment of sarcomas showed the very same mesenchymal origin of the surrounding stromal cells. The presence of circulating tumor cells and miRNAs in blood samples of sarcoma patients represents the possibility not only to better stratify patients group according to the prognosis but also to tailor new individualized therapy. So, it could be predicted that some genes expressed in a specific sarcoma might have prognostic significance or therapeutic targeting potential and molecular targets can be identified in the tumor or in the tumor microenvironment. Therefore the initial evaluation of a sarcoma patient should include in-depth genetic evaluation including karyotyping and c-DNA/protein expression profiling. The chemokine signaling demonstrated to be deeply implicated in sarcoma development as well as to have a significant role in development of metastatic disease, especially in directing tumor cells towards the preferential sites of metastases in sarcoma, lung and bone. It is unsolved if the blood stream is a more favorable environment compared to lymphatic or if lymph nodes are more efficient in destroying metastatic sarcoma cells. But the comprehension of the regulatory mechanisms of the behavior of mesenchymal malignant tumors is at its dawn.

Clear Cell Sarcoma of the Ileum: Report of a Case and Review of the Literature

Abstract: Introduction.Clear cell sarcoma of the gastrointestinal tract (CCS-GI) is an extremely rare and aggressive tumor, which often mimics other neoplastic processes. Because of this feature, its real incidence may have been underestimated, especially in the past when genetic tests were less available than nowadays. To date, less then 30 cases have been described in the literature on the GI tract.Case presentation.We report the case of a 69-year-old woman who presented with active rectal bleeding. After a negative colonoscopy, the patient underwent a video-capsule endoscopy. The latter detected an ileal mass that was surgically resected. The microscopic appearance was consistent with a malignant mesenchymal neoplasm; immunohistochemistry was positive for S100 protein, CD56, and INI1. Fluorescence in situ hybridization showed a translocation involving the EWSR1 (Ewing sarcoma 1) gene region. All these findings were consistent with a CCS-GI.Conclusion.Herein we present a case of CCS-GI, discuss its clinical and p...

Clear cell sarcoma of the gastrointestinal tract presenting as a second malignant neoplasm following neuroblastoma in infancy

Abstract: To the Editor: Clear cell sarcoma of the gastrointestinal tract (GI CSS) in children is extremely rare with only four cases reported in the literature [1–4]. Two of these reports describe CCS presenting as a second malignant neoplasm (SMN) following prior therapy for acute leukemia [1,2]. We are reporting the first published case of GI CCS presenting as an SMN from a survivor of neuroblastoma in infancy. A 15-year-old Caucasian male presented with fevers, myalgias, night sweats, and weight loss. His past medical history was significant for neuroblastoma diagnosed at 2 months of age with disease localized to the liver. The tumor was hyperdiploid with a non-amplified MYCN. He received local radiotherapy (450 cGy) followed by chemotherapy as per Pediatric Oncology Group study 9243: cyclophosphamide (7,350 mg/m), doxorubicin (245 mg/ m), cisplatin (180 mg/m), and etoposide (400 mg/m). He went into complete remission and was well until his most current presentation. He was thin with pallor. No abdominal masses were palpated. Laboratory studies revealed iron deficiency anemia and an elevated ESR. An initial computed tomography (CT) scan

Selected unusual tumors of the stomach: a review.

Abstract: Several unusual stomach tumors have been recently described. In addition, some tumors that are often encountered in other sites may rarely occur as primary gastric tumors. The diagnostic surgical pathologist needs to be aware of some of these lesions to prevent misdiagnosis. This overview discusses the key clinical features, pathology, immunohistochemistry, and relevant molecular findings of multiple minute gastrointestinal stromal tumors and interstitial cell of Cajal hyperplasia, nerve sheath tumors (schwannoma and perineurioma), gastroblastoma, granular cell tumor, glomus tumor, plexiform angiomyxoid myofibroblastic tumor, and primary clear cell sarcoma of the gastrointestinal tract that occur as primary gastric neoplasms.

Specificity and sensitivity of INI-1 labeling in epithelioid sarcoma. Loss of INI1 expression as a frequent immunohistochemical event in synovial sarcoma.

Abstract: INI1 antigen is a product of the INI-1/SMARCB1 gene localized on chromosome 22q. It is well known that INI1 gene inactivation or loss of INI1 antigen expression is observed in epithelioid sarcomas; however, there are only few reports concerning specificity and sensitivity of immunohistochemical INI1 labeling as a marker of this neoplasm. That is why we decided to test 99 soft tissue sarcomas for the presence of the INI1 gene product. More specifically, the analyzed group consisted of 33 synovial sarcomas, 14 fibrosarcomas, 8 desmoid tumors, 8 DFSPs, 5 MPNSTs, 9 epithelioid sarcomas, 11 Ewing sarcomas/PNETs, 9 rhabdomyosarcomas and 2 clear cell sarcomas. Additionally, 7 malignant melanomas and 9 adenocarcinomas were included into the study. Positive staining with an antibody against the INI-1 gene product was observed in all studied cases of MPNST, Ewing sarcoma/PNET, rhabdomyosarcoma, malignant melanoma, clear cell sarcoma, and adenocarcinoma. On the contrary, none of 9 epithelioid sarcomas was labeled. The loss of INI1 expression was also detected in 7 (21.2%) synovial sarcomas, confirmed cytogenetically or by FISH. Considering the lack of reaction with INI-1 antibody as a diagnostic test for epithelioid sarcoma we estimated that its sensitivity reached 100% and specificity - 83.5% (p < 0.0001).

MUM-1 expression differentiates tumors in the PEComa family from clear cell sarcoma and melanoma.

Abstract: PEComas are mesenchymal neoplasms composed of perivascular epithelioid cells (PEC) and include a spectrum of tumors. PEComas and malignant melanoma share common morphological, immunohistochemical, and ultrastructural features, such as epithelioid cell morphology and melanocytic immunophenotype. Melanocytic markers commonly expressed in PEC tumors include HMB-45, Melan-A/MART-1, tyrosinase, microphthalmia transcription factor (MITF), and occasionally, S100. Given this morphological and immunophenotypical overlap, the differential diagnosis between a PEComa and malignant melanoma can represent a challenge. Additional diagnostic difficulty is the differentiation of melanoma and PEComa from clear cell sarcoma that is indistinguishable from melanoma based on the immunohistochemical profile. Recent studies have shown that MUM-1, a known lymphocyte marker shows positive immunostaining in nevi and melanomas, its expression in PEComas and clear cell sarcoma, however, has not been previously addressed. In this study, the authors analyzed MUM-1 expression using immunohistochemistry in PEComas (n = 8), the PEComa family members, angiomyolipomas (n = 13), and clear cell sarcomas (n = 11) and compared the staining pattern with malignant melanomas (n = 25), both primary (n = 14) and metastatic (n = 11). It was found that 92.3% of primary melanomas and 81.3% of metastatic melanomas were MUM-1 positive. In contrast, MUM-1 was only weakly positive in only 25% of PEComas and negative in all angiomyolipomas. MUM-1 expression was noted in 72.7% of clear cell sarcomas. The study demonstrated differential MUM-1 expression between PEComas and other true melanocytic tumors and suggested that the addition of MUM-1 to the usual panel of melanocyte markers could be a helpful adjunctive study to aid in the differential diagnosis between these entities.

Cutaneous clear cell sarcoma: A rare aggressive tumor with potential diagnostic challenge

Abstract: Clear cell sarcoma is a deep-seated, exceedingly rare aggressive tumor, typically involving the tendons and aponeuroses with melanocytic differentiation and a distinct genetic background. A primary dermal location is rarer. It exhibits histological, immunohistochemical, and ultrastructural similarities with the more common primary (or metastatic) malignant melanoma causing major diagnostic confusion. We describe a case of primary cutaneous clear cell sarcoma arising in the right lower extremity of a 40-year-old male patient.

Clear-cell sarcoma of the soft tissue--a rare diagnosis with a fatal outcome.

Abstract: IPACH I., MITTAG F., KOPP H.-G., KUNZE B., WOLF P. & KLUBA T. (2012) European Journal of Cancer Care21, 412–420 Clear-cell sarcoma of the soft tissue – a rare diagnosis with a fatal outcome Clear-cell sarcomas account for less than 1% of all soft tissue tumours. They most often occur in middle-aged adults as a deeply located lesion with predilection to the tendons and aponeuroses. The aim of the present study was to show possible influencing factors on the outcome after surgical treatment in a detailed case series. We reviewed the medical records of 11 patients with the diagnosis of a clear-cell sarcoma of the soft tissue. These cases were analysed with regard to age, gender, localisation, tumour size, recurrence free survival and overall survival. A minimum follow up of 12 months was achieved. The mean age at the point of diagnosis was 47.9 years. Metastases occurred after a mean of 19.2 months. In the cases with a tumour diameter >5 cm, metastases occurred earlier. When treated in a specialist centre, metastases occurred later. Patients died a mean of 18.4 months after developing metastatic disease. Patients with tumour size >5 cm at the point of primary diagnosis died earlier than patients with a tumour size <5 cm. It is important to detect clear-cell sarcomas as soon as possible and the final surgical treatment should be performed in a centre familiar with the treatment of soft tissue tumours not only to prolong overall survival, but also to treat the patient in a multiprofessional team.

Soft Tissue and Bone

Abstract: Various benign and intermediate lesions of soft tissues and bones are listed in the first section. Special interest topics are adipocytic tumors, fibroblastic/myofibroblastic lesions, muscle tumors, schwannoma, and Langerhans cell histiocytosis. A selection of sarcoma from soft tissue and bone is presented in the ‘malignant section’ including relevant immunocytochemical and molecular genetic tests.

A rare case of primary clear cell sarcoma of the pubic bone resembling small round cell tumor: an unusual morphological variant

Abstract: Background: Clear cell sarcoma (CCS) and malignant melanoma share overlapping immunohistochemistry with regard to the melanocytic markers HMB45, S100, and Melan-A. However, the translocation t(12; 22)(q13; q12) is specific to CCS. Therefore, although these neoplasms are closely related, they are now considered to be distinct entities. However, the translocation is apparently detectable only in 50%–70% of CCS cases. Therefore, the absence of a detectable EWS/AFT1 rearrangement may occasionally lead to erroneous exclusion of a translocation-negative CCS. Therefore, histological assessment is essential for the correct diagnosis of CCS. Primary CCS of the bone is exceedingly rare. Only a few cases of primary CCS arising in the ulna, metatarsals, ribs, radius, sacrum, and humerus have been reported, and primary CCS arising in the pubic bone has not been reported till date. Case presentation: We present the case of an 81-year-old man with primary CCS of the pubic bone. Histological examination of the pubic bone revealed monomorphic small-sized cells arranged predominantly as a diffuse sheet with round, hyperchromatic nuclei and inconspicuous nucleoli. The cells had scant cytoplasm, and the biopsy findings indicated small round cell tumor (SRCT). Immunohistochemical staining revealed the tumor cells to be positive for HMB45, S100, and Melan-A but negative for cytokeratin (AE1/AE3) and epithelial membrane antigen. To the best of our knowledge, this is the first case report of primary CCS of the pubic bone resembling SRCT. This ambiguous appearance underscores the difficulties encountered during the histological diagnosis of this rare variant of CCS. Conclusion: Awareness of primary CCS of the bone is clinically important for accurate diagnosis and management when the tumor is located in unusual locations such as the pubic bone and when the translocation t(12; 22)(q13; q12) is absent.

Clear cell sarcoma expressing a novel chimerical transcript EWSR1 exon 7/ATF1 exon 6

Abstract: Clear cell sarcoma harbours recurrent translocation, resulting in EWSR1/ATF1 or less commonly EWSR1/CREB1 fusion. To date, six types of EWSR1/ATF1 fusion have been reported, of which three are in-frame and encode functional proteins. We present a reverse transcription - polymerase chain reaction analysis of a tumour near the hallux of the right foot. The sequencing of obtained fragments revealed the presence of a novel chimerical transcript—the in-frame fusion between EWSR1 exon 7 and ATF1 exon 6 that represents the fourth in-frame type of EWSR1/ATF1 fusion identified in clear cell sarcomas.

Pediatric clear cell sarcoma of the kidney with atriocaval thrombus.

Abstract: Clear cell sarcoma of the kidney (CCSK) is an uncommon neoplasm that accounts for almost 3 % of pediatric renal tumors. Cavoatrial tumor thrombosis is very rare and because of poor response to chemotherapy, invasive surgical interventions such as open heart surgery may be indicated. A 6-year-old girl with CCSK of right kidney was treated with neoadjuvant chemotherapy. According to poor chemosensitivity, surgical intervention was planned. Right atriotomy was done, but intra-atrial part of tumor was very firm and unsuctionable; so the procedure was completed by laparotomy and en bloc resection of tumoral kidney and its cavoatrial extension through a limited venotomy on inferior vena cava. Although radical resection of CCSK with intracaval involvement should be considered as a multidisciplinary approach and intensive care and supports should be provided, atriocaval tumor in growth in CCSK is firm, non friable and non-adherent, and tumor en bloc resection may be possible through a limited venotomy via primary abdominal approach.

Primary sarcoma of the anterior cruciate ligament - a case report.

Abstract: Clear cell sarcoma of tendons and aponeuroses (CCSTA) is a rare, aggressive soft tissue malignancy, which is found in intimate association with tendon, aponeurosis or fascia. It has not previously been reported in association with intraarticular ligaments. We report the first case of an intraarticular CCSTA, in this case of the anterior cruciate ligament and describe the diagnostic and treatment challenges of intraarticular tumours of the knee.