Chromosomal Abnormalities in Clear Cell Sarcoma: Implications for Histogenesis (original) (raw)
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A rare case of primary clear cell sarcoma of the leg in an elderly
2014
Clear cell sarcoma (CCS) is an aggressive, rare soft sarcomas. Also called malignant melanoma of soft of melanin, ultra structural evidence of melanosomes, and immunohisto melanoma associated antigen HMB DNA ploidy analysis reveals that CCS has a diploid or lesser degree of an melanoma. This paper reports on a clear cell sarcoma occurring at a very old age in upper part of leg. consisted of round to spindle cells with clear cytoplasm and multinucleated giant cells. Both S100 and HMB45 were positive. DNA analysis by Flow Cytometry showed a diploid pattern of growth. tumor. The case supports the contention that delineate CCS. Wide excision with negative margins remains the mainstay of treatment.
Cancer Genetics and Cytogenetics, 1994
Cytogenetic ana/ysis was performed on a primary tumor and a metastatic lesion of a clear cell sarcoma of tendons and aponeuroses (CCS), a rare soft tissue neoplasm of uncertain histopathologic origin. Clonal chromosomal abnormalities resulting in two related clones were found in both tumors. The karyotype was near-triploid with several structural and numerical changes, comprising a tier(15;22) (ql0;ql0/. Including the present case, 14 of 15 cases of CCS have had structural or numerical aberrations of chromosome 22 and nine of them (65%) displayed o similar or identical t(12;22)(q13-14;q12-13). Our findings suggest that in the absence of specific t(12;22), other abnormcdities of chromosome 22 may be significant. In addition, increased doses of chromosome 8 found in 70% of the tumors strongly suggest a significant role for this chromosome in the development of clear cell sarcoma. From the
Clear Cell Sarcoma: A Case Report and Review of Literature
International Journal of Hematology-Oncology and Stem Cell Research, 2018
Clear cell sarcoma (CCS), a deep-rooted tumor with a predilection for lower extremities, has a proclivity to involve the tendons and aponeuroses. This sarcoma is seen predominantly around the foot and ankle region. Diagnosis is mainly finalized using histological and immunohistochemical assessment. The main treatment strategy is surgery followed by chemotherapy. An erratic challenge is posed by histological similarity and immunohistochemical overlap to the diagnosis and distinguishing of clear cell sarcoma from primary or metastatic malignant melanoma (MM) which is more common. Here, we described a CCS case located in the left leg of a 37-year-old male patient.
Clear Cell Sarcoma of Soft Tissue: A Rare Malignancy Entity
Scholars Journal of Medical Case Reports
Clear cell sarcoma (CCS) of soft tissue or soft tissue melanoma is a rare malignant tumor in young adults, preferentially affecting the lower limbs. We report a new observation of a 17-year-old patient, without a significant history, consulted for a nodular lesion of the left ankle, painless, appeared 06 months before, evolving in a context of general impairment. The clinical examination found a purplish nodule, about 2/2 cm, hard, fixed, associated with multiple nodular lesions along the homolateral lower limb, with the presence of homolateral inguinal lymphadenopathy. There was no associated motor or vascular disorder. The nodule ultrasound showed a mass of soft tissue, hypoechogenic, heterogeneous. The computed tomography of the ankle revealed a lesional process of the medial face infiltrating the tendon and ligament structures and encompassing the posterior tibial artery. Histological examination showed round cell malignant tumor proliferation. The immuno-histochemical supplement showed an expression of the S100 protein and monoclonal antibody HMB-45 by tumor cells. The biopsy of an inguinal node affirmed its metastatic nature. The anatomo-clinical confrontation allowed to retain the diagnosis of clear cell sarcoma. The extension assessment made of a chest-abdominal-pelvic computed tomography showed metastatic lymph nodes intra and retroperitoneal. The patient was given chemotherapy (ifosfamide-adriamycin). Sarcoma with clear soft tissue cells or melanoma of the soft parts is a rare malignant tumor. It occurs most often in young adults at the lower limbs. It is a firm subcutaneous mass, slowly progressive, well limited, usually deep attached to tendon and aponeurotic structures. The positive diagnosis is based on histology coupled with immunohistochemistry. It can be helped by molecular biology in case of doubt diagnosis with melanoma. Its poor prognosis requires early and adequate management.
Oncology in Clinical Practice, 2019
Clear cell sarcoma (CCS), also referred as to melanoma of soft tissues, is a rare malignant tumour of soft tissues. This tumour harbors the characteristic features of soft tissue sarcoma (STS) and is a slowly growing, painless tumour, which then acquires an aggressive course. CCS is characterized by a translocation t(12; 22)(q13; q12), which in addition to the diagnostic implications may be important for targeted treatment in the future. CCS occurs mainly on the limbs, most often shin (in feet and ankle area) in the tendons and aponeurosis, often at a young age. CCS is characterized by high potential to develop metastases in regional lymph nodes (about 30% of cases). In the diagnostic process one should consider performing a sentinel node biopsy with possible subsequent radical lymphadenectomy in the case of metastases detection. Treatment of localized disease is limited to radical local excision with complementary radiotherapy. Due to the resistance to classical chemotherapy and the presence of characteristic molecular abnormalities, trials of molecular targeted therapies in this group of cancers are ongoing. In clinical trials, MET inhibitors, tyrosine kinase inhibitors (TKI)-sunitinib and pazopanib were evaluated. CCS was also one of the subtypes of tumours evaluated in the CREATE clinical trial with crizotinib.
Surgical Case Reports, 2020
Clear cell sarcoma is a rare mesenchymal tumor with melanocytic differentiation, firstly described by Enziger in 1965. It accounts for less than 1% of all soft tissue sarcomas and occurs predominantly in the extremities of adults. Primary clear cell sarcoma of bone is even rarer; current literature consists of only 13 cases with a mean age of presentation of 45-year-old, ranging from 18 to 81. Because of the overlapping expression of melanocytic markers, the differential diagnosis should be addressed with metastatic malignant melanoma and metastasis from clear cell sarcoma of soft parts. Essential for the diagnosis is the evidence of translocations t (12;22) or t (2;22) resulting respectively in EWSR1/ATF1 and EWSR1-CREB1 gene fusion. Clinical history and radiological assessment could help discriminate between bone or soft parts origin. We report an unusual case of clear cell sarcoma of distal femur involving a 13-year-old patient. Histological sections showed a malignant neoplasm c...
Clear cell sarcoma (CCS), (malignant melanoma of soft tissues) is an aggressive, rare soft tissue tumour that occurs predominantly in the extremities of young adults. The treatment of CCS includes surgical excision, adjuvant radiotherapy or chemoterapy according to tumor dissemination. Here we present a 31-year-old male with an advanced stage of CCS that was located in the deep of the sole of right foot. Since CCS is extremely rare, there doesn’t exist any standart of care for advanced stage disease. For the treatment, a review of the literature was done and subsequently we decided to perform a bioimmunochemotherapy protocol for the patient which has been thought to work better in these tumors compared to conventional chemotherapeutics alone, and he received a combination treatment of cisplatin, dacarbazine, interleukin-2, interferon-α-2b. After three cycles of treatment, he showed partial response. Although the regimen is quite toxic, it seems to be effective for advanced CCS.
The Journal of molecular diagnostics : JMD, 2002
Clear cell sarcoma (CCS), also known as melanoma of soft parts, is an uncommon deep soft tissue tumor presenting typically in the lower extremities of young adults. Previous cytogenetic studies have established the specificity of the recurrent t(12;22)(q13;q12), resulting in a EWS-ATF1 fusion, for CCS. The prevalence of the EWS-ATF1 fusion in CCS remains unclear, since most genetically confirmed CCS have been reported as isolated cytogenetic or molecular diagnostic case reports. We therefore studied histologically confirmed CCS from 12 patients for the presence of EWS-ATF1 by reverse-transcriptase polymerase chain reaction (RT-PCR), using RNA extracted from either frozen (four cases) or formalin-fixed paraffin-embedded (eight cases) material. All primary tumors were located in the deep soft tissues of the extremities. Histologically, 10 cases had a typical epithelioid nested appearance. Most or all cases showed immunostaining for HMB45 (12 of 12), S-100 protein (10 of 12), and MITF ...
Clear Cell Sarcoma or Malignant Melanoma of Soft Parts
Cancer Genetics and Cytogenetics, 1998
Malignant melanoma of soft parts, also termed clear cell sarcoma (CCS), is a rare malignancy of neural crest origin which is different from cutaneous malignant melanoma. Although a translocation involving chromosomes 12 and 22 is characteristic of clear cell sarcoma and not malignant melanoma, there are a paucity of methods to differentiate the two. Therefore, a study of microsatellite instability (MIN) was undertaken to determine if mechanisms of DNA mismatch repair can differentiate these malignancies. MIN has been described in a variety of malignancies including 25% of malignant melanomas. Paraffin-embedded neoplastic and non-neoplastic cells were obtained from 11 individuals (five males; six females; age range from seven to 60 years) with CCS. Isolated DNA was PCR amplified at 17 separate microsatellite loci using radioactive-labeled primers. Tumor tissue was compared to normal tissue for each analysis. No MIN was detected. Loss of heterozygosity was detected in only one patient at a single locus (IFNA). The lack of MIN in clear cell sarcoma further defines the distinction between this tumor and malignant melanoma. Clinically, local recurrence and metastasis were indicators of poor outcome. The size of the tumor was not a significant prognostic indicator. Local recurrence, satellitosis, or nodal metastasis was not proven to be uniformly fatal. Utilization of chemotherapy and/or radiation demonstrated no obvious survival advantage. The histologic parameters of mitotic rate and the presence of necrosis were not prognostic. Limb-preserving surgical procedures were as effective as amputation for local disease control. The actuarial survival rate was calculated to be 48% at five years.