Spindle cell‐predominant epithelioid fibrous histiocytoma

Murigu, Timothy; Bhatt, Nidhi; Miller, Keith; Palmer, Abigail; Melegh, Zsombor

doi:10.1111/his.13484

Cited by 6 publications

(5 citation statements)

References 11 publications

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“…Kazakov et al had described a case series of EFH with variable histopathological findings including two cases with predominant spindle cell morphology without epithelioid cells: one case with small spindle cells on a sclerotic background (similar to our case 1), and a case with dense, predominantly spindle cells, particularly similar to our case 2 6 (Table 1). Two cases of EFH reported by Murigu et al were cellular and predominantly spindled in close resemblance to our case 2 as well 7 . All reported cases of EFH with spindle cells show female predominance and predilection for acral and trunk region.…”

Section: Discussionsupporting

confidence: 84%

“…Diagnosis of EFH harboring purely spindle cells may be difficult on histopathology alone, as they may have overlapping features with other soft tissue neoplasms. Fusion partners rearranged with ALK gene were identified only in a few EFH with some spindle cell morphology 6,7 . In this present series, we report three cases of EFH with exclusive spindle cell morphology, all expressing ALK by immunohistochemistry (IHC) and exhibit ALK rearrangement by FISH and NGS studies.…”

Section: Introductionmentioning

confidence: 70%

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Spindle cell variant of epithelioid cell histiocytoma (spindle cell histiocytoma) with ALK gene fusions: Cases series and review of the literature

Kazlouskaya

Jedrych

et al. 2020

J Cutan Pathol

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Background Epithelioid fibrous histiocytoma (EFH) is an uncommon dermal neoplasm expressing anaplastic lymphoma kinase (ALK) protein. Rarely a histopathological variant of this entity exhibits exclusively spindle cells. We report three cases of EFH that do not completely fulfill phenotypic criteria featuring spindle cell morphology and expressing ALK protein. We also analyze the fusion partner genes rearranged with ALK in these cases. Methods ALK expression and rearrangement status were evaluated by immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and next generation sequencing based gene fusion analysis. Results Three cases, all from females between 25 and 55 years old, have been biopsied from back, left arm, and thumb. All three cases showed tumor with exclusively spindle cell morphology without any epithelioid cells. The tumor cells exhibited strong ALK expression by IHC and FISH study confirmed ALK gene rearrangement in all three cases. DCTN1‐ALK fusion was identified in two cases. Conclusion EFH is not always purely epithelioid and its spindled cell variant, spindle cell histiocytoma, should be included in the differential diagnosis of superficial dermal spindled cell neoplasms. ALK immunostain is a useful diagnostic marker for this entity and further studies may be useful to investigate whether DCTN1‐ALK fusion mutations are specific to EFH with spindled cell features.

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Section: Discussionsupporting

confidence: 84%

Section: Introductionmentioning

confidence: 70%

Spindle cell variant of epithelioid cell histiocytoma (spindle cell histiocytoma) with ALK gene fusions: Cases series and review of the literature

Kazlouskaya

Jedrych

et al. 2020

J Cutan Pathol

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“…Morphological variants of EFH include the (1) cellular, 6 (2) perineurioma-like, 7 (3) spindle cell, 3,8,9 (4) granular cell, [10][11][12] (5) hemorrhagic, 13 and ( 6) chondroblastoma-like 14 subsets of the lesion. An overview of these variants is provided in Table 1.…”

Section: Discussionmentioning

confidence: 99%

Epithelioid Fibrous Histiocytoma With Chondroblastoma-Like Features: A Report of a Rare Entity and Discussion of Related Diagnostic Challenges

Wright

Archibald

Fontaine

et al. 2021

The American Journal of Dermatopathology

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Epithelioid fibrous histiocytoma (EFH) is an uncommon benign skin lesion. It is distinct from FH by virtue of its recurrent anaplastic lymphoma kinase (ALK) gene rearrangements and immunohistochemical expression of ALK protein. It often poses a challenge in interpretation. Clinically, it is characterized by a fleshcolored papule/nodule on an extremity of a young to middle-aged individual. Microscopically, it is represented by a circumscribed dermal papule/nodule composed of sheets of plump epithelioid cells, forming whorled aggregates around numerous intralesional vessels. Immunohistochemistry, notably ALK positivity and relevant negative stains, serves to distinguish EFH from its morphological mimics. Rare examples of chondroblastoma-like EFH and EFH with osseous metaplasia are recorded in the literature. Our case is of a 58-year-old man who attended an oculoplastic surgeon because of an exophytic cutaneous nodule on the right upper eyelid. The lesion was excised. Microscopically, it displayed morphological and immunohistochemical features of EFH. Of interest, discrete foci of chondro-osseous change, including chondroblastoma-like pericellular calcification, osteoid formation, and osteoclast-like giant cells, were noted throughout the lesion. A diagnosis of EFH with chondroblastomalike features was made. Of interest, the changes observed in this EFH serve to link the previously reported examples of pure chondroblastoma-like EFH and EFH with osseous metaplasia. This morphological variant of EFH adds to the existing diagnostic challenge presented by these lesions, particularly in the distinction from other calcifying tumors of the skin.

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“…2 In recent years, new morphologic variants have been described, including those which show a spindled and chondroblastoma-like morphology. 3–8…”

Section: Introductionmentioning

confidence: 99%

“…2 In recent years, new morphologic variants have been described, including those which show a spindled and chondroblastoma-like morphology. [3][4][5][6][7][8] The defining molecular feature of EFH is the presence of anaplastic lymphoma kinase (ALK) gene fusions 9,10 which lead to hyperactive ALK signaling. At least 14 different ALK fusion partners have been described to date (summarized in Table 1).…”

Section: Introductionmentioning

confidence: 99%

A Novel Fusion Partner, SP100, Drives Nuclear Dot Localization of ALK in Epithelioid Fibrous Histiocytoma

Russell‐Goldman

Dong

Laga

et al. 2023

The American Journal of Dermatopathology

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Epithelioid fibrous histiocytoma (EFH) is a distinctive benign cutaneous neoplasm composed of uniform epithelioid cells, often with binucleated cells. EFH are characterized by the presence of anaplastic lymphoma kinase (ALK) gene rearrangements with a variety of binding partners. These rearrangements result in the overexpression of ALK, which can be detected using immunohistochemistry. Cytoplasmic ALK expression is by far the most common pattern encountered. Here, we describe a case of EFH with a distinctive intranuclear dot-like ALK expression pattern. Subsequent next-generation DNA sequencing revealed a novel SP100::ALK gene fusion. Speckled protein-100 (SP100) is a constituent of nuclear dots, also known as promyelocytic leukemia bodies, which are still poorly understood membraneless subnuclear structures. Thus, this novel ALK fusion partner seems to explain this distinctive pattern of ALK localization. We examined ALK expression patterns in 11 other cases of EFH, but all showed typical cytoplasmic localization. This study expands the morphologic and molecular spectrum of EFH, provides a dramatic illustration of the ability of fusion partners to control protein localization, and implies that tumorigenic ALK signaling may occur at a variety of subcellular locations.

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Spindle cell‐predominant epithelioid fibrous histiocytoma

Cited by 6 publications

References 11 publications

Spindle cell variant of epithelioid cell histiocytoma (spindle cell histiocytoma) with ALK gene fusions: Cases series and review of the literature

Spindle cell variant of epithelioid cell histiocytoma (spindle cell histiocytoma) with ALK gene fusions: Cases series and review of the literature

Epithelioid Fibrous Histiocytoma With Chondroblastoma-Like Features: A Report of a Rare Entity and Discussion of Related Diagnostic Challenges

A Novel Fusion Partner, SP100, Drives Nuclear Dot Localization of ALK in Epithelioid Fibrous Histiocytoma

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