Melanoma Of Soft Parts Research Articles

Clear Cell Sarcoma of Tendon and Aponeuroses with Excessive Melanin Production – An Unusual Presentation

Clear cell sarcoma of tendons and aponeuroses also called as malignant melanoma of soft parts is a rare tumor of neural crest origin with 70% of them possessing balanced translocation t(12; 22). Approximately 50% of the tumor produces melanin which often shows focal pigmentation or needs special stains to demonstrate melanin. Production of excessive melanin by this tumor is very unusual and very few case reports are available in literature. We report a case of Clear cell sarcoma with excessive melanin production in a 50-year-old female patient involving the left popliteal fossa.

Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation

We present a case of clear cell sarcoma (CCS) on the left large toe of an 80-year-old female. CCS, also known as “melanoma of soft parts,” is a rare soft tissue neoplasm that exhibits melanocytic differentiation. Most cases occur on the distal extremities of young female adults. CCS shares histopathologic and immunohistochemical features with malignant melanoma that cause diagnostic difficulties distinguishing between these entities; therefore, cytogenetic studies of specific translocations are paramount in obtaining the correct diagnosis. The majority of CCS cases reveal a t(12;22)(q13;q12) EWSR1/ATF1 translocation, while a rare subset of CCS demonstrate a t(2;22) (q32:q12) EWS/CREB1 translocation. Our patient presented with a 50-year history of a nodule on the dorsum of her left large toe, with increasing size and tenderness over the past nine months. Histopathology and immunoperoxidase staining indicated CCS as a differential diagnosis. Cytogenetic analysis revealed a translocation in t(2;22) (q32;q12) resulting in the EWSR1/CREB1 gene, confirming a diagnosis of CCS. The translocation, histologic location, and long-standing clinical course exhibited in this case are exceptionally rare, and we hope to inform dermatologists of an uncommon presentation of CCS in an unexpected age group.

Primary Clear Cell Sarcoma of the Breast: A Case Report

Abstract Casestudy: Clear cell sarcoma (CCS), also known as malignant melanoma of soft parts, is a primary soft tissue neoplasm exhibiting evidence of melanocytic differentiation. It is an uncommon aggressive tumor that arises in tendons and aponeuroses of the distal extremities. Here, we report the first case of primary CCS of the breast. The patient was a 43-year-old female who presented with a left breast mass and underwent surgical resection at an outside hospital. No history of melanoma or any other malignancies was reported. Grossly, it was described as a 2 x 1.5 x 1.5 cm, well-demarcated, white nodular mass. Microscopic examination showed a malignant neoplasm composed of short spindle cells with ill-defined, eosinophilic cytoplasm and ovoid nuclei with finely stippled chromatin and exhibiting moderate pleomorphism. The lesional cells were arranged in short interlacing fascicles with abundant collagen, with brisk mitotic activity (>15/10 HPF). The differential diagnosis included spindle cell carcinoma, myoepithelial carcinoma and melanocytic neoplasm. The tumor cells were immunoreactive for S-100 protein, SOX10, Mart-1, HMB45 and MiTF, but negative for multiple cytokeratins (including high and low molecular weight keratins), p63, EMA, CEA, Caldesmon, smooth muscle myosin, calponin, desmin, ERG, and CD31, thus confirming melanocytic origin. EWSR1 gene rearrangement was detected by fluorescence in situ hybridization analysis using break-apart probes. Overall, the histomorphology combined with the immunophenotype and cytogenetic characteristics, was most consistent with a CCS. To our knowledge, no primary CCS of the breast has been previously reported in the English language literature.

Prognostic Factors for Survival in Patients with Clear Cell Sarcoma: An Analysis of the Surveillance, Epidemiology, and End Results (SEER) Database.

BackgroundClear cell sarcoma (CCS) of soft tissue, or malignant melanoma of soft parts, is a rare disease. We aimed to identify prognostic factors linked to patient survival in CCS by analyzing demographic and clinical features using the Surveillance, Epidemiology, and End Results (SEER) database. This study aimed to identify prognostic factors associated with CCS that would be of clinical value.Material/MethodsWe collected data from patients diagnosed with CCS between 1973 and 2009 from the SEER database. The Kaplan-Meier method and Cox regression analysis were performed to identify prognostic factors for patient survival.ResultsA total of 175 patients with CCS were identified from the SEER database. The 5-year survival rate was 62.9%, and the 10-year survival rate was 51.3%. Patients with CCS with local stage, and with tumor size ≤3 cm were more likely to have good survival rates.ConclusionsThe findings from this study showed that the identifiable prognostic factors in patients with CCS were stage and tumor size. Local stage and tumor size ≤3 cm were favorable prognostic factors for patient survival in CCS.

Clear cell sarcoma of right knee with bone marrow metastasis: A case report and review of literature.

Clear cell sarcoma (CCS) of the soft tissue is an extremely rare malignant tumor which was first described by Dr Franz M Enzinger in 1965. Soft tissue sarcomas comprise only 1% of malignant tumors and clear cell sarcoma is the rarest among these. It is closely associated with tendons, aponeurosis and fascial structures of extremities. Histomorphologically and immunohistochemically it resembles amelanotic melanoma and was earlier called as malignant melanoma of soft parts. But it is a unique soft tissue tumour with uninvolved overlying skin and characteristic chromosomal translocation. The characteristic histopathological features along with immunohistochemical positivity for S-100p, Melan-A and HMB-45 help in differentiation of this tumour from other lesions like fibrosarcoma and MPNST. The common site of metastasis includes lymph nodes, lungs, skin, liver, heart and brain. We present a rare case of an 18-year-old boy with clear cell sarcoma of right knee, which had lymph node metastasis at presentation and found to have bone marrow metastasis during the course of the disease. DOI: 10.21276/apalm.2017.1107

A Rare Case of Clear Cell Sarcoma (Malignant Melanoma of Soft Parts) Diagnosed in Pleural Effusion Cytology

A Rare Case of Clear Cell Sarcoma (Malignant Melanoma of Soft Parts) Diagnosed in Pleural Effusion Cytology

Clear Cell Sarcoma (Malignant Melanoma of Soft Part): A Rare Soft Tissue Sarcoma

Clear cell sarcoma is a rare malignant neoplasm usually presenting as soft tissue mass in foot of young adult. Ultrastructural studies reveal neuroectodermal origin with melanocytic differentiation. Thus it is considered as malignant melanoma of soft parts. Though the prognosis is apparently better as compared to the conventional melanoma, local recurrences and metastases are frequently seen. Large tumor size and extent of necrosis are factors for poor prognosis. A case of clear cell sarcoma with classical presentation is reported.

Clear Cell Sarcoma of the Wrist: MRI Findings with Diffusion-Weighted Image and Histopathologic Correlation

Clear cell sarcoma (CCS, malignant melanoma of soft parts) is a rare neoplasm accounting for 1% of all soft tissue sarcomas (1). Young adults between the ages of 20 and 40 are most commonly involved (1). CCS is intimately associated with or in a tendon, ligament, or aponeurosis. Suggestive features of diagnosis best seen on MR imaging include a mass having components not only surrounding but within a tendon, ligament, or aponeurosis. Herein, we describe a case of CCS of the dorsum of the wrist closely abutting the tendons with MRI-histopathologic correlation including diffusionweighted imaging.

Mucosal melanoma: correlation of clinicopathologic, prognostic, and molecular features.

Although the presence of the t(12;22)(q13;q12) translocation (the defining molecular feature of malignant melanoma of soft parts/clear cell sarcoma) in cutaneous melanoma has been investigated, no large-scale studies have been performed among mucosal melanoma (MucM). In this study we assessed the prevalence of the EWSR1 rearrangement in primary MucM, and analyzed gross and microscopic features with their potential impact on diagnosis and prognosis. Overall, 132 specimens from 84 patients were included. A total of 55 cases had an intramucosal component. Survival of MucMs of the head and neck was associated with two independent factors: size and histology. Tumors more than 3 cm in greatest dimension had an average survival of 12.75 months; those 3 cm or less had an average survival of 38.3 months (P=0.035). Purely epithelioid tumors had an average worse survival of 16.8 months (P=0.028). A cut-off value of 1 mm for Breslow depth provided a statistically significant difference in survival at both 3 and 5 years (P=-0.02) by multivariate analysis in the gynecologic tract. At the molecular level three cases had a EWSR1 rearrangement by fluorescent in-situ hybridization, but only one with an intramucosal component. None of the 58 cases tested by PCR showed the presence of the EWSR1 rearrangement. With the exception of vulvar melanomas, the prognosis of mucosal-associated melanomas was poor and there was a suggestion that spindle morphology may be more favorable. Our study also showed that the EWSR1 rearrangement was very uncommon among MucM. Though 'clear cell sarcoma' is embedded in the sarcoma literature, the synonym 'melanoma of soft parts' has considerable justification in light of our evolving understanding of the molecular genetics in the family of malignant melanomas.

Malignant melanoma of soft parts with osteoclast-rich giant cells: A rare tumor of the jejunum

Malignant melanoma of soft parts with osteoclast-rich giant cells: A rare tumor of the jejunum

Two cases of clear cell sarcoma with different clinical and genetic features: cutaneous type withBRAFmutation and subcutaneous type withKITmutation

Clear cell sarcoma (CCS), also known as malignant melanoma of soft parts, is a rare malignancy constituting approximately 1% of all soft-tissue sarcomas. It occurs predominantly in the lower extremities of young adults, manifesting as a deep, painless, slow-growing mass. CCS is sometimes confused with other types of melanoma because of its melanocytic differentiation. Although BRAF and KIT mutations are well-known melanocytic tumour-promoting mutations frequently found in cutaneous melanoma, they are rare or absent in CCS. We present two cases of CCS with different clinical and genetic features. Both female patients, aged 25 and 20 years, presented with a palpable nodule on a lower extremity. Biopsies of both tumours revealed features diagnostic of CCS. Each tumour cell was positive for S100 protein and HMB-45. However, one patient's tumour was localized to the dermis, with many multinucleated giant cells, whereas the other was located in the deep subcutaneous fat layer near bone. Fluorescence in situ hybridization demonstrated the presence of a characteristic Ewing sarcoma RNA-binding protein (EWSR)1 gene rearrangement in both cases. Reverse-transcription polymerase chain reaction (PCR) and sequencing of the PCR product revealed an EWSR1-activating transcription factor 1 type 1 fusion transcript in both cases. In addition, we detected BRAF mutation in the dermal type and KIT mutation in the subcutaneous type. It is of interest that the BRAF and KIT mutations are known to be very rare in CCS. On the basis of our observations, we suggest that mutation inhibitors may be useful in selected patients with mutated CCS lineages.

Clear cell sarcoma of the jejunum: a case report

BackgroundClear cell sarcoma (CCS), also known as malignant melanoma of soft parts, is a rare type of soft tissue sarcoma which exhibits morphological, immunohistochemical and ultrastructural similarity with malignant melanoma. It is rarely localized in the intestine and the natural history of this tumor is not yet clear.Case reportA 49-year-old woman presented with diffuse abdominal colicky pain and vomitus over the previous seven days. An X-ray of the abdomen revealed obstruction of the small intestine. The patient underwent contrast enhanced abdominal computerized tomography (CT), which confirmed the obstruction at the jejunum and an associated circumferential wall thickening extending about 3 cm in length, causing concentric narrowing of the lumen. At laparotomy, a mass was recognized at the level of the jejunum in the small intestine, which caused almost complete obstruction of the lumen. At the point of obstruction, adhered loops of small intestine were found. A segmental small bowel resection was performed with 5 cm clear margins and its respective mesenteric lymph nodes.ResultsHistological examination of the specimen revealed a tumor (3×3×2cm) with epithelioid cell characteristics and eosinophilic or clear cytoplasm and focal translucent nuclei. Immunohistochemistry was positive for S100, epithelial membrane antigen (EMA) and synaptophysin. The tumor was pankeratin AE1/AE2, GFAP, HMB45 and MART-1/Melan-A negative. Twelve lymph nodes were retrieved and were free of neoplastic infiltration. Cytogenetic examination revealed translocation of the EWSR1 gene. The patient had an uncomplicated postoperative course and left the hospital seven days after her admission in good general condition. After 20 months of follow-up the patient remains asymptomatic without any clinical or radiological evidence of recurrence.ConclusionCCS sarcoma can be rarely localized in the jejunum. Due to its morphological similarity to malignant melanoma, cytogenetic examination is necessary for its diagnosis. Wide resection of the tumor and its respective lymph nodes was associated with a 20-month disease free survival in this patient.

Superficial paramucosal clear cell sarcoma of the soft parts resembling melanoma in a 13‐year‐old boy

Clear cell sarcoma (CCS) of tendons and aponeuroses, also known as melanoma of soft parts, represents an aggressive rare malignancy that is characterized by a nested or fascicular pattern of spindled cells and a pathognomonic reciprocal translocation, t(12;22)(q13;q12), that results in the fusion of EWSR1 and ATF1 genes. Numerous recent studies have recognized the importance of a cutaneous CCS variant that can mimic a broad spectrum of entities, including spindle cell melanoma, spindle cell squamous carcinoma, cutaneous leiomyosarcoma and atypical fibroxanthoma. We report a case of a 13-year-old boy with cutaneous CCS who presented with a few months history of an asymptomatic papule on the lower lip that was suggestive of a mucocele. Biopsy of the lesion showed a wedge shaped neoplasm arranged in nests and fascicles of epithelioid- to oval-shaped cells with pale cytoplasm, open chromatin and prominent nucleolus. The superficial component was closely opposed to the basal epithelium resembling the junctional nests of a melanocytic neoplasm. The process extended into and involved the striated muscle of the lip. The cells expressed S-100, CD99 and synaptophysin by immunohistochemistry, and there was focal HMB-45 and microphthalmia transcription factor (MiTF) positivity as well. Fluorescence in situ hybridization confirmed the presence of the t(12;22) (ESWR1-ATF1) translocation.

Hypoxia-induced transcriptional repression of the melanoma-associated oncogene MITF

Microphthalmia-associated transcription factor (MITF) regulates normal melanocyte development and is also a lineage-selective oncogene implicated in melanoma and clear-cell sarcoma (i.e., melanoma of soft parts). We have observed that MITF expression is potently reduced under hypoxic conditions in primary melanocytes and melanoma and clear cell sarcoma cells through hypoxia inducible factor 1 (HIF1)-mediated induction of the transcriptional repressor differentially expressed in chondrocytes protein 1 (DEC1) (BHLHE40), which subsequently binds and suppresses the promoter of M-MITF (melanocyte-restricted MITF isoform). Correspondingly, hypoxic conditions or HIF1α stabilization achieved by using small-molecule prolyl-hydroxylase inhibitors reduced M-MITF expression, leading to melanoma cell growth arrest that was rescued by ectopic expression of M-MITF in vitro. Prolyl hydroxylase inhibition also potently suppressed melanoma growth in a mouse xenograft model. These studies illuminate a physiologic hypoxia response in pigment cells leading to M-MITF suppression, one that suggests a potential survival advantage mechanism for MITF amplification in metastatic melanoma and offers a small-molecule strategy for suppression of the MITF oncogene in vivo.

Clear Cell Sarcoma of the Knee. A Report of Two Rare Cases

Clear cell sarcoma of soft tissue is a rare type of soft tissue sarcoma. It is derived from melanoblast-like cells located within subcutaneous tissue, tendon and aponeuroses. The tumour is also known as malignant melanoma of soft parts because it has similar morphology to malignant melanoma. Unlike malignant melanoma, however, it is not associated with a cutaneous lesion. We report here two cases of this tumour occurring in young adults.

Soft tissue tumors: Malignant melanoma of soft parts

Review on Soft tissue tumors: Malignant melanoma of soft parts, with data on clinics, and the genes involved.

Clear cell sarcoma of the nuchal region with metastasis in stomach

Clear cell sarcoma/malignant melanoma of soft parts is a rare malignant tumor that originates from the neural crest. It is most common in young men in the lower limbs, grows slowly in the form of deep localized nodes around the tendons, fascia, and aponeurosis. Prognosis is poor, local recurrences and metastases are common. We present a case of a 53-year-old patient who sought medical attention due to the presence of a tumefaction in the nuchal neck region, followed by pain, heightened sensitivity, and numbness in his right hand. After excision, histological examination, and application of immunohistochemical and histochemical methods, malignant melanoma of soft tissues was diagnosed. Fourteen months after the excision of the neck tumor, a metastatic stomach disease was diagnosed. Larger tumors with necrosis, expressed pleomorphisam, and increased mitotic activity give metastases before local recurrence. Diagnosis is set using immunohistochemical methods after surgical excision of the tumor and the prognosis of the disease depends on the size of tumor and complete surgical excision.

Cutaneous Clear Cell Sarcoma: Insights from a Rare Entity

Clear cell sarcoma (CCS) of tendons and aponeuroses (aka malignant melanoma of soft parts) was first described 45 years ago. As the name implies, these lesions frequently affect tendons and aponeuroses of the distal extremities in adolescents and young adults. Both CCS and melanoma involve melanosomes and positivity for the markers S-100, HMB-45, Melan-A, and MITF-1. The authors of this study focus on how the clinicopathologic findings and cutaneous presentation of CCS …

Malignant melanoma of soft parts arising from Tenon’s capsule

Malignant melanoma of soft parts arising from Tenon’s capsule

Correlation between KIT expression and KIT mutation in melanoma: a study of 173 cases with emphasis on the acral-lentiginous/mucosal type

The role of immunohistochemistry in the assessment of KIT status in melanomas, especially acral lentiginous/mucosal, is not well established. Although the reported prevalence of KIT mutations in acral lentiginous/mucosal melanomas is relatively low, detection of mutations in KIT can have profound therapeutic implications. We evaluated the efficacy of immunohistochemistry to predict mutations in KIT. One hundred seventy-three tumors, comprising primary and metastatic melanomas (141 acral lentiginous/mucosal, 5 nodular, 4 lentigo maligna, 3 superficial spreading, 2 uveal, 1 melanoma of soft parts, 8 metastases from unclassified primaries, and 9 metastases from unknown primaries) were studied. Immunohistochemical expression of KIT using an anti-CD117 antibody and KIT mutational analysis by gene sequencing of exons 11, 13, and 17 were performed. Eighty-one percent of acral lentiginous/mucosal melanomas, primary and metastatic, showed KIT expression by at least 5% of the tumor cells. The overall frequency of activating KIT gene mutations in acral lentiginous/mucosal melanomas was 15% (14 out of 91 cases), being the L576P mutation in exon 11 the most frequently detected (4 of 14 cases). Cases showing less than 10% positive tumor cells were negative for KIT mutations. Eighty-two percent (12 of 14) of cases positive for KIT mutation showed KIT expression in more than 50% of the cells. An association between immunohistochemical expression of KIT and mutation status was found (P=0.007). Immunohistochemical expression of KIT in less than 10% of the cells of the invasive component of acral lentiginous/mucosal melanomas appears to be a strong negative predictor of KIT mutation and therefore can potentially be used to triage cases for additional KIT genotyping.