Loss of retinoblastoma in pleomorphic fibroma: An immunohistochemical and genomic analysis

Hinds, Brian; Pérez, A.D. Agulló; LeBoit, Philip E.; McCalmont, Timothy H.; North, Jeffrey P.

doi:10.1111/cup.12965

Cited by 26 publications

(32 citation statements)

References 19 publications

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“…Although deletion of RB1 locus was first described in retinoblastomas, it has also been observed in small cell lung, prostate, breast, and urothelial carcinomas 3 . Among mesenchymal entities pleomorphic lipoma/spindle cell lipoma, 4 cellular angiofibroma, 5 mammary type myofibroblastoma and pleomorphic fibroma characteristically exhibit loss of Rb1 6,7 …”

Section: Introductionmentioning

confidence: 99%

Acral fibromyxoma with loss of Rb1 by immunohistochemistry and fluorescence in situ hybridization: A diagnostically exploitable marker

2020

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Acral fibromyxoma (AF) is a slow growing benign soft tissue tumor with predilection to subungal and periungal region of the hands or feet. CD34 is consistently expressed whereas very recently loss of Rb1 expression was described as a possible driver molecular event for this entity. Herein we present two additional cases of AF with loss of Rb1 expression by IHC and subsequent confirmation of loss of the RB1 gene locus by fluorescence in situ hybridization (FISH). We hope to raise awareness in dermatopathology community of this new discovery, which can be diagnostically exploitable for this distinct and probably underreported neoplasm.

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Section: Introductionmentioning

confidence: 99%

Acral fibromyxoma with loss of Rb1 by immunohistochemistry and fluorescence in situ hybridization: A diagnostically exploitable marker

2020

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“…Other adipose S‐100‐positive neoplasms should be taken into account: sclerotic lipoma, a lipoma variant with adipocytes interspersed between a whorled fibrotic stroma; pleomorphic liposarcoma, a rare variant of liposarcoma characterized by pleomorphic lipoblasts; and finally, pleomorphic lipoma, a benign entity that shares with PF the features of negative immunostaining and loss of expression of Rb1 on fluorescence in situ hybridization. This is the reason why some authors have postulated that PF could be a variant of pleomorphic lipoma …”

Section: Discussionmentioning

confidence: 99%

Giant cutaneous pleomorphic fibroma: an unusual presentation

Garbayo-Salmons¹,

Casulleras‐González²,

Agut-Busquet³

et al. 2018

Clin Exp Dermatol

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“…As the characteristic of spindle cell/pleomorphic lipoma is loss of RB1 due to chromosome 13 aberration, a lack of RB1 loss by FISH in our case was considered an argument against this diagnosis. However, interestingly an article in early online release in the journal has recently found abnormal negative RB1 immunohistochemical staining and loss of RB1 by comparative genomic hybridization in pleomorphic fibroma, suggesting that perhaps pleomorphic fibroma represents another member of the same family of neoplasms (or a variant of pleomorphic lipoma with limited fat). Yet in our case, we identified neither RB1 locus deletion by FISH nor abnormal negative staining using immunohistochemistry.…”

Section: Discussionmentioning

confidence: 99%

Pleomorphic fibroma of the skin with MDM2 immunoreactivity: A potential diagnostic pitfall

et al. 2017

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Pleomorphic fibroma is a rare benign cutaneous neoplasm characterized by spindle-shaped cells and multinucleated giant cells scattered throughout collagenous stroma. These morphologic features can lead to diagnostic confusion, including atypical lipomatous tumor as one consideration. In contrast to atypical lipomatous tumor, previous studies have found pleomorphic fibroma to be negative for MDM2 immunohistochemical staining and MDM2 gene amplification. Here, we present a case of pleomorphic fibroma of skin with nuclear MDM2 immunoreactivity in the absence of MDM2 gene amplification, underscoring the superiority of fluorescence in situ hybridization as a diagnostic test in this differential diagnosis. The RB1 locus is also explored for differential diagnosis with pleomorphic/spindle cell lipoma and related entities. Figure 1E). The immunohistochemical staining for S100, neurofilament and CD68 was negative and CD31and D2-40 highlighted scattered vessels and rare lymphatic channels, respectively. Clinical and morphologic features were consistent with pleomorphic fibroma; however, the positivity of a subset of the spindle-shaped cells and pleomorphic cells for MDM2 was suggestive of an atypical lipomatous tumor. To further establish the diagnosis, we examined the 12q15 region for MDM2 gene amplification using FISH, which was negative ( Figure 1F), arguing against consideration of atypical lipomatous tumor. We further evaluated the status of RB1

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Loss of retinoblastoma in pleomorphic fibroma: An immunohistochemical and genomic analysis

Abstract: We report recurrent loss of RB1 on chromosome 13q in pleomorphic fibromas, confirmed by both protein expression loss and loss of 13q by aCGH. This result indicates pleomorphic fibroma shares the same genetic abnormalities as spindle cell and pleomorphic lipomas.

Cited by 26 publications

References 19 publications

Acral fibromyxoma with loss of Rb1 by immunohistochemistry and fluorescence in situ hybridization: A diagnostically exploitable marker

Acral fibromyxoma with loss of Rb1 by immunohistochemistry and fluorescence in situ hybridization: A diagnostically exploitable marker

Giant cutaneous pleomorphic fibroma: an unusual presentation

Pleomorphic fibroma of the skin with MDM2 immunoreactivity: A potential diagnostic pitfall

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