Epithelioid sarcoma: An immunohistochemical analysis of 112 classical and variant cases and a discussion of the differential diagnosis

Miettinen, Markku; Fanburg‐Smith, Julie C.; Virolainen, Martti; Shmookler, Barry M.; Fetsch, John F.

doi:10.1016/s0046-8177(99)90247-2

Cited by 283 publications

(234 citation statements)

References 25 publications

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“…Clinically, like epithelioid fibrous histiocytoma, epithelioid sarcoma typically presents as a nodule on the extremities of young adults, and although it tends to arise in deeper dermis and subcutis, it may involve superficial dermis, where it is usually less sharply circumscribed than epithelioid fibrous histiocytoma. 28,29 The tumor cells of epithelioid sarcoma are variably epithelioid and spindled in appearance, with abundant pink cytoplasm and vesicular nuclei with small nucleoli, and although relatively uniform, they show greater nuclear atypia than epithelioid fibrous histiocytoma. In addition to EMA, the tumor cells of epithelioid sarcoma also express cytokeratins and CD34, and loss of INI1 (SMARCB1) expression is seen in 490% of cases.…”

Section: Discussionmentioning

confidence: 99%

ALK rearrangement and overexpression in epithelioid fibrous histiocytoma

et al. 2015

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Epithelioid benign fibrous histiocytoma, also known as 'epithelioid cell histiocytoma,' has traditionally been considered a morphologic variant of cutaneous fibrous histiocytoma (dermatofibroma). In addition to its characteristic epithelioid cytomorphology, several phenotypic differences suggest that epithelioid fibrous histiocytoma may differ biologically from other variants. Recently, ALK rearrangement was described in two cases of epithelioid fibrous histiocytoma and separately in two cases reported as 'atypical' fibrous histiocytoma (with epithelioid features), with corresponding ALK expression detectable by immunohistochemistry. The goals of this study were to determine the frequency of ALK expression by immunohistochemistry in epithelioid fibrous histiocytoma, to determine its value for the diagnosis of epithelioid fibrous histiocytoma among variants and other histologic mimics, and to evaluate ALK gene rearrangement in epithelioid fibrous histiocytoma. ALK protein expression was evaluated in whole tissue sections from 33 epithelioid fibrous histiocytomas, 41 other cases of fibrous histiocytoma (11 conventional and 10 each cellular, atypical, and aneurysmal types), 10 cutaneous syncytial myoepitheliomas, and 5 atypical fibroxanthomas, using a mouse anti-ALK monoclonal antibody. Fluorescence in situ hybridization (FISH) was performed using break-apart probes. In total, 29/33 (88%) cases of epithelioid fibrous histiocytoma showed diffuse cytoplasmic ALK expression. Staining was moderate to strong in intensity in all cases except one, which showed diffuse weak expression. All other tumor types were negative for ALK expression. FISH demonstrated ALK rearrangement in all ALK-immunoreactive cases evaluated (n = 13), and not in one ALK expression-negative epithelioid fibrous histiocytoma successfully examined. In conclusion, the majority of epithelioid fibrous histiocytomas demonstrate ALK expression and ALK gene rearrangement. ALK expression is not seen in other variants of fibrous histiocytoma, providing a useful diagnostic tool to distinguish epithelioid fibrous histiocytoma from most histologic mimics. The expression of ALK suggests that epithelioid fibrous histiocytoma is a biologically distinct tumor type, unrelated to conventional fibrous histiocytoma and histologic variants. Modern Pathology (2015) 28, 904-912;

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Section: Discussionmentioning

confidence: 99%

ALK rearrangement and overexpression in epithelioid fibrous histiocytoma

et al. 2015

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“…PMHs are negative for CD34. A distinctive membranous CD31 reactivity as noted in the PMH is absent in the epithelioid sarcoma [19]. While the PMH expresses strong nuclear reactivity for INI 1, the epithelioid sarcoma is negative for this marker [4].…”

Section: Differential Diagnosismentioning

confidence: 99%

Pseudomyogenic Hemangioendothelioma: A Vascular Tumor Previously Undescribed in the Oral Cavity

Rawal

Anderson

Dodson

2016

Head and Neck Pathol

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“…9 Another helpful discriminating marker is CD34, which is at least in 50% of epithelioid sarcomas positive. 20,23,24 Although genetic aberrations in INI1, located on 22q11, are reported in epithelioid sarcoma, EWSR1 rearrangements are never described. 19,22,25,26 On histomorphological grounds, extraskeletal myxoid chondrosarcomas and ossifying fibromyxoid tumors may also enter the differential diagnosis.…”

Section: Ewsr1 In Cutaneous Myoepitheliomamentioning

confidence: 99%

EWSR1 gene rearrangement occurs in a subset of cutaneous myoepithelial tumors: a study of 18 cases

et al. 2011

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Cutaneous myoepithelial tumors form a clinicopathological spectrum ranging from mixed tumor to myoepithelioma and myoepithelial carcinoma. Recently, EWSR1 rearrangement has been described in a subset of soft tissue myoepithelial tumors, whereas the cutaneous counterparts showed this aberration in a minority of cases. This raises the question whether cutaneous myoepithelial tumors have comparable genetic alterations. We examined 18 cases of cutaneous myoepithelial tumors arising in 7 female and 11 male patients (age range, 34-86 years; mean, 58 years). Eight mixed tumors occurred at the head, and one at the scrotum. Six myoepitheliomas arose at the extremities, and one case each at the back and head. One myoepithelial carcinoma occurred at the cheek. The tumor size ranged from 0.3 to 1.7 cm (mean, 1.0 cm). All mixed tumors and three myoepitheliomas were limited to the dermis. Four myoepitheliomas and the myoepithelial carcinoma involved the subcutis. Mixed tumors and myoepitheliomas were composed of myoepithelial cells with a variable cytomorphology, architecture and stromal background. Ductal structures were seen by definition in mixed tumors. The myoepithelial carcinoma represented an infiltrative dermal neoplasm consisting of atypical spindle cells. Immunohistochemically, all cases tested were positive for EMA and calponin, whereas S100, CK, ASMA and GFAP were expressed in 90%, 80%, 78% and 50% of the cases tested, respectively. By fluorescent in situ hybridization analysis, 7 out of 16 cases (44%) exhibited EWSR1 rearrangement. Four of them were mixed tumors, two were myoepitheliomas and one was a myoepithelial carcinoma, confirming that these lesions represent a spectrum of dermal myoepithelial tumors. Follow-up information, available for five patients (including the patient with a myoepithelial carcinoma), revealed no evidence of disease in all cases (range, 6-72 months). Our study provides a genetic relationship of myoepithelial tumors of the skin with their counterparts in soft tissue, bone and visceral localization by sharing EWSR1 rearrangement.

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Epithelioid sarcoma: An immunohistochemical analysis of 112 classical and variant cases and a discussion of the differential diagnosis

Cited by 283 publications

References 25 publications

ALK rearrangement and overexpression in epithelioid fibrous histiocytoma

ALK rearrangement and overexpression in epithelioid fibrous histiocytoma

Pseudomyogenic Hemangioendothelioma: A Vascular Tumor Previously Undescribed in the Oral Cavity

EWSR1 gene rearrangement occurs in a subset of cutaneous myoepithelial tumors: a study of 18 cases

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