Clear cell sarcoma in unusual sites mimicking metastatic melanoma

Obiorah, Ifeyinwa E.; Özdemirli, Metin

doi:10.5306/wjco.v10.i5.213

Cited by 11 publications

(12 citation statements)

References 23 publications

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“…Clear cell sarcoma is an rare aggressive malignant neoplasm with morphologic and immunohistochemical similarities to malignant melanoma. Although both malignant melanoma and clear cell sarcoma display melanin pigment and melanocytic markers, the 2 disorders are genetically distinct 64. Cases of malignant melanoma may contain BRAF mutations,65 whereas clear cell sarcoma lacks this mutation66 and characteristically exhibits the reciprocal translocation t(12;22)(q13;q12) resulting in a rearrangement of the EWS RNA binding protein 1 ( EWSR1 ) gene.…”

Section: Nonsalivary Clear Cell Neoplasms In Differential Diagnosismentioning

confidence: 99%

Clear Cell Neoplasms of Salivary Glands: A Diagnostic Challenge

Skálová

Leivo²,

Hellquist³

et al. 2022

Advances in Anatomic Pathology

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This review focuses on the heterogenous group of clear cell neoplasms of salivary glands and attempts to identify major differential diagnostic features. Within the head and neck region, clear cells are found most commonly in salivary gland tumors, but may also be seen in tumors of squamous or odontogenic epithelial origin, primary or metastatic carcinomas, benign or malignant melanocytic lesions, or benign or malignant mesenchymal tumors. Clear cells occur fairly commonly among a wide variety of salivary gland neoplasms, but mostly they constitute only a minor component of the tumor cell population. Clear cells represent a major diagnostic feature in two salivary gland neoplasms, epithelial-myoepithelial carcinoma and hyalinizing clear cell carcinoma. In addition, salivary gland neoplasms composed predominantly of clear cells could also include clear cell variants of other salivary neoplasms, such as mucoepidermoid carcinoma and myoepithelial carcinoma, but their tumor type-specific histologic features may only be available in limited nonclear cell areas of the tumor. Diagnosing predominantly clear cell salivary gland tumors is difficult because the immunoprofiles and morphologic features may overlap and the same tumor entity may also have a wide range of other histologic presentations. Many salivary gland tumors are characterized by tumor type-specific genomic alterations, particularly gene fusions of the ETV6 gene in secretory carcinoma, the MYB and MYBL1 genes in adenoid cystic carcinoma, the MAML2 gene in mucoepidermoid carcinoma, the EWSR1 gene in hyalinizing clear cell carcinoma, and others. Thus, along with conventional histopathologic examination and immunoprofiling, molecular and genetic tests may be important in the diagnosis of salivary gland clear cell tumors by demonstrating genetic alterations specific to them.

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Section: Nonsalivary Clear Cell Neoplasms In Differential Diagnosismentioning

confidence: 99%

Clear Cell Neoplasms of Salivary Glands: A Diagnostic Challenge

Skálová

Leivo²,

Hellquist³

et al. 2022

Advances in Anatomic Pathology

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“…CCS most commonly affects adolescents and young adults [1]. Few reports have shown that CCS predominantly affects females, and recent literature has shown that CCS is equally distributed among both genders [2, 4, 7, 8, 11]. CCS of a primary dermal origin is extremely rare, and it has been reported in remarkably few case studies and series.…”

Section: Discussionmentioning

confidence: 99%

“…Immunohistochemical analysis in CCS is positive for HMB45 in 90% of the cases, for microphthalmia transcription factor (MITF) in 71%, for S100 protein in 64%, and for Melan-A markers in 43% [1]. A cytogenic hallmark for CCS diagnosis is a reciprocal translocation, t(11.21)(q13;q12), which results in EWSR1/ATF1 chimeric transcription [3, 4, 14].…”

Section: Discussionmentioning

confidence: 99%

Clear Cell Sarcoma of the Foot in an 18-Year-Old Female

Albeshri

Ashour

2019

Case Reports in Orthopedics

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We report a case of an 18-year-old female without a relevant medical history who presented with an 8-month history of a left foot mass. It started as a small nodule that progressively increased in size over time. The mass then became ulcerative with foul-smelling discharge. There was no palpable left inguinal or other lymph nodes upon physical examination. Histological examination of the biopsy confirmed a diagnosis of clear cell sarcoma. Clear cell sarcoma is a rare soft tissue neoplasm. However, early diagnosis is crucial to prevent metastasis and worsened prognosis. Clear cell sarcoma has an extremely poor prognosis once metastasis occurs, and to the best of our knowledge, only fewer than 100 cases have been reported in the literature.

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“…Clear cell sarcoma of soft tissue (CCS-ST) is a distinctive entity that has a predilection for the distal extremities of young to middle-aged adults. This rare tumor type can also arise in some unusual sites, including the head and neck region, 1,2 pleura, 3,4 trunk, 5 retroperitoneum, 6 penis, 7,8 bone, 9,10 and visceral organs. 11 In 2003, Zambrano et al 12 reported a small series of 6 gastrointestinal (GI) tumors sharing morphological features in common with CCS-ST but showing essential differences, particularly the absence of expression of melanocytic markers or ultrastructural evidence of melanocytic differentiation.…”

Section: Introductionmentioning

confidence: 99%

Primary Clear Cell Sarcoma of the Ileum: A Case Report With Next-Generation Sequencing Analysis

Zhu

Zhang

et al. 2021

Int J Surg Pathol

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As the concept of clear cell sarcoma–like tumor or malignant gastrointestinal neuroectodermal tumor (CCS-LT/MGNET) has been widely accepted, primary CCS of the gastrointestinal tract (CCS-GI) is becoming a rare entity. In this article, we describe a case of primary CCS-GI that occurred in the ileum of a 65-year-old male to further illustrate its rare occurrence. Similar to CCS of soft tissue (CCS-ST), the tumor was composed of spindled to epithelioid cells displaying fascicular, nested, or pseudopapillary arrangement. The tumor cells had large round to ovoid nuclei with vesicular chromatin and prominent nucleoli, containing eosinophilic to pale cytoplasm. In contrast to CCS-LT/MGNET, immunohistochemical study also showed variable positivity of HMB45, melan A, and MiTF besides the strong and diffuse staining of S100 protein and SOX10. Fluorescence in situ hybridization (FISH) using fusion probes identified EWSR1 and ATF1 genes rearrangement. Next-generation sequencing (NGS) analysis further revealed EWSR1 exons9/8- ATF1 exon4 and ATF1 exon3- EWSR1 exon11 fusion genes. CCS-GI and CCS-LT/MGNET possibly represent 2 related entities of the same spectrum, which differentiate along 2 different pathways.

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Clear cell sarcoma in unusual sites mimicking metastatic melanoma

Cited by 11 publications

References 23 publications

Clear Cell Neoplasms of Salivary Glands: A Diagnostic Challenge

Clear Cell Neoplasms of Salivary Glands: A Diagnostic Challenge

Clear Cell Sarcoma of the Foot in an 18-Year-Old Female

Primary Clear Cell Sarcoma of the Ileum: A Case Report With Next-Generation Sequencing Analysis

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