Primary mediastinal clear cell sarcoma: a case report and review of the literature

Jin, Long; Sui, Yuxia; Zhu, Haili; Chen, Zhizhong; Liu, Shuguang

doi:10.1186/s13000-016-0594-z

Cited by 7 publications

(4 citation statements)

References 16 publications

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“…Cases of CCS developing in the kidney, torso, penis, and in the region of the head and neck or mediastinum were also described. The primary location in the skin is extremely rare with several isolated cases described so far and only one published series of cases of 12 and pooled analysis of 23 patients [9][10][11].…”

Section: Epidemiologymentioning

confidence: 99%

Clear cell sarcoma

et al. 2019

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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.

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Section: Epidemiologymentioning

confidence: 99%

Clear cell sarcoma

et al. 2019

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“…Clear cell sarcoma, originally called “malignant melanoma of soft parts” due to its melanocytic differentiation, is a rare, aggressive soft tissue sarcoma usually arising in the lower extremities at 20–40 years of age with only three mediastinal primaries previously reported [ 1 ]. Most cases of CCS are characterized by a t(12;22)(q13;q12) translocation, resulting in fusion of the Ewing’s sarcoma gene, EWS, with the ATF1 transcription factor [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

“…CCS shares striking histological and immunohistochemical similarities with cutaneous melanoma, often containing melanin pigment and expressing melanocyte differentiation antigens including S-100, HMB-45, and Melan-A [ 5 ]. Like melanoma and in contrast to most sarcomas, CCS is thought to derive from neural crest, spreads to regional lymph nodes in up to 50% of patients, and is frequently associated with in transit metastases [ 1 , 2 , 5 ]. CCS carries a high risk of hematogeneous dissemination with 5-year overall survival of 50–60% for localized disease and poor response to chemotherapy [ 1 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

“…Like melanoma and in contrast to most sarcomas, CCS is thought to derive from neural crest, spreads to regional lymph nodes in up to 50% of patients, and is frequently associated with in transit metastases [ 1 , 2 , 5 ]. CCS carries a high risk of hematogeneous dissemination with 5-year overall survival of 50–60% for localized disease and poor response to chemotherapy [ 1 , 5 ]. Thus, modern authors have classified CCS as a melanoma subtype [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

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Complete response of mediastinal clear cell sarcoma to pembrolizumab with radiotherapy

2017

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BackgroundClear cell sarcoma (CCS) is a rare, aggressive soft tissue sarcoma thought to derive from neural crest and characterized by a 12;22 translocation. The resulting fusion protein directly activates expression of the melanocyte master transcription factor and drives the same down-stream pathways in CCS and melanoma leading to significant clinical parallels between these malignancies. Striking success of immune checkpoint blockade in melanoma has promoted interest in immunotherapy of CCS.Case presentationWe report the first complete clinical response of a bulky chest wall recurrence of mediastinal CCS in a young woman to anti-PD1 checkpoint blockade with pembrolizumab combined with standard fractionation radiotherapy to enhance regional control and potentially boost the systemic immune response. The treatment was well tolerated with grade 2 skin toxicity within the range expected with radiation alone. Significant reduction in tumor bulk occurred after only 2 radiation fractions and complete response was achieved at 50 Gray.ConclusionThe complete clinical response observed in our patient suggests synergy between concurrent radiotherapy and PD1 blockade in CCS. This case and the striking parallels between CCS and melanoma indicate the need for prospective trials of immune checkpoint blockade combined with radiotherapy in this rare malignancy.

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