Penile pseudomyogenic hemangioendothelioma/epithelioid sarcoma-like hemangioendothelioma with a novel pattern of SERPINE1-FOSB fusion detected by RT-PCR – Report of a case

Ide, Yoshihiro; Tsukamoto, Yoshitane; Ito, Takaaki; Watanabe, Takahiro; Nakagawa, Noboru; Haneda, Takashi; Nagai, Makoto; Yamanishi, Kiyofumi; Hirota, Seiichi

doi:10.1016/j.prp.2015.02.003

Cited by 31 publications

(11 citation statements)

References 24 publications

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“…Most patients presented with multiple small painless or painful nodules which were rarely suspected as vascular lesions by clinicians. The clinical diagnosis embraced a wide variety of disease, including cutaneous cyst, sebaceous cyst, mosquito bite, abscess, nodular fasciitis, keratoacanthoma, spiradenoma, dermatofibroma, leiomyoma, neuroma, hemangioma and angiosarcoma [2, 7, 12–15]. In our case, the lesion was originally considered Bartholin gland cyst, vulvar hematoma or papilloma.…”

Section: Discussionmentioning

confidence: 98%

“…With regard to site, over half of PMHE occurred in the lower extremities, including foot, leg, knee and thigh. About 17% occurred in the upper extremities, including forearm, hand, finger, upper arm, wrist and axilla; 15% in the trunk, including abdominal wall, chest wall, back and pelvis; 6% in the head and neck region, including face, oral cavity and neck; and exceedingly unusual site like the penis [12]. To date, occurrence of PMHE in the vulva has not been reported thus far.…”

Section: Discussionmentioning

confidence: 99%

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Primary pseudomyogenic hemangioendothelioma of the vulva: a rare location for a rare entity

Sun

Wang

2019

Diagn Pathol

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Background: Pseudomyogenic hemangioendothelioma (PMHE) is a recently described vascular neoplasm which typically occurs in the lower extremities of young to middle-aged adults. Case presentation: We present here a unique case of PMHE arising primarily in the vulva of a 51-year-old woman who presented with a painful vulvar nodule. Clinically, it was thought as Bartholin gland cyst, vulvar hematoma or papilloma. On surgery, two nodules were found with one located in the superficial dermis and the other in the deep subcutis. Histologically, these two nodules showed similar features, composed of fascicles or sheets of plump spindled to epithelioid cells with eosinophilic cytoplasm. Given the morphological resemblance to a myogenic tumor, the lesion was initially diagnosed as a rhabdomyosarcoma by the referring pathologist. However, a comprehensive reevaluation of the submitted slides made us reconsider a PMHE, which was subsequently confirmed by immunohistochemical study. Conclusion: This case demonstrates that PMHE can also develop in the female external genitalia albeit extremely rare. This disease should be included in the differential diagnostic list of vulvar tumors with spindled to epithelioid morphology and cytokeratin-positive immunophenotypes.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Primary pseudomyogenic hemangioendothelioma of the vulva: a rare location for a rare entity

Sun

Wang

2019

Diagn Pathol

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“…Walther et al also demonstrated that FOSB mRNA expression in PHE cases was significantly higher than other soft tissue tumor cases, and predicted that SERPINE1-FOSB fusion provided a promoter that allowed the strong expression of FOSB [ 9 ]. Ide et al have recently reported a rare penile PHE case with SERPINE1-FOSB fusion detected by RT-PCR [ 10 ], and demonstrated strong nuclear expression of FOSB on IHC in the tumor cells. In our study, only PHE cases showed diffuse and strong positivity for FOSB, while cases of EHE, AS, KS and ES exhibited limited or no expression of FOSB on IHC.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic utility of FOSB immunohistochemistry in pseudomyogenic hemangioendothelioma and its histological mimics

et al. 2016

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BackgroundPseudomyogenic hemangioendothelioma (PHE) is an unusual vascular tumor of intermediate malignancy that rarely metastasizes and tends to arise in the lower limbs of young adults and children. Histologically, PHE shows fascicular proliferation of eosinophilic spindle cells and/or epithelioid cells showing “pseudomyogenic” morphology. Immunohistochemically, PHE is usually positive for vimentin, cytokeratin, CD31 and ERG.MethodWe examined FOSB immunohistochemistry (IHC) in 27 cases consisting of 4 PHE and its histologic mimics including 6 epithelioid hemangioendotheliomas (EHE), 8 angiosarcomas (AS), 4 Kaposi sarcomas (KS) and 5 epithelioid sarcomas (ES). In addition, we performed IHC of CAMTA1 which has recently been established as a useful marker of EHE. We elucidated the diagnostic utility of FOSB IHC in the differential diagnosis of PHE and its histological mimics and also examined the usefulness of FOSB and CAMTA1 IHC combination in the differential diagnosis of the tumors.ResultsIHC revealed diffuse and strong FOSB expression in all PHE cases, while the other tumor types demonstrated limited, weak or no FOSB expression. All EHE cases exhibited diffuse and moderate to strong expression of CAMTA1. All tumor types except for EHE showed limited, weak or no CAMTA1 reactivity.ConclusionsDiffuse and strong FOSB expression was specific for PHE in the current series and FOSB IHC is an effective tool for differentiating between PHE and its histological mimics. Moreover, the combination of FOSB and CAMTA1 IHC is useful for distinguishing PHE from EHE.

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“…Staining for CK-MNF116, EMA, S100, CD34, and desmin is negative in the tumor cells. FOSB rearrangement is also described in subsets of pseudomyogenic hemangioendotheliomas [60][61][62] .…”

Section: Vascular Tumorsmentioning

confidence: 95%

Role of Next-Generation Sequencing as a Diagnostic Tool for the Evaluation of Bone and Soft-Tissue Tumors

2017

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Bone and soft-tissue tumors are in general rare. Diagnosing these tumors is challenging based on the significant number of different tumor entities, the rareness of these tumors, and the considerable morphological heterogeneity which can be found within a single tumor entity. Considering that more than half of the described soft-tissue tumors and approximately 25% of the bone tumors harbor recurrent genetic alterations, the use of auxiliary molecular examinations should be strongly considered. Molecular analyses are important to confirm the diagnosis, to guide treatment, to provide information about prognosis, and to allow patient recruitment for basket trials based on the molecular signature of a tumor. In addition, novel molecular alterations detected by next-generation sequencing (NGS) obtain further insights into the pathogenesis of these rare tumors and allow a more detailed genetic classification. Based on our single-center results of NGS using the Ion AmpliSeq Cancer Hotspot Panel v2 and the Ion AmpliSeq Comprehensive Cancer Panel (Thermo Fisher Scientific) for mutational analyses as well as the Archer FusionPlex Sarcoma Kit (ArcherDX, Inc) to detect gene fusions in 26 genes since early 2016, we have experienced NGS as a very sensitive method to detect genetic alterations. In our experience, the use of the Archer FusionPlex Sarcoma Kit is superior to fluorescent in situ hybridization as an auxiliary tool in the routine workup of soft-tissue and bone tumors.

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Penile pseudomyogenic hemangioendothelioma/epithelioid sarcoma-like hemangioendothelioma with a novel pattern of SERPINE1-FOSB fusion detected by RT-PCR – Report of a case

Cited by 31 publications

References 24 publications

Primary pseudomyogenic hemangioendothelioma of the vulva: a rare location for a rare entity

Primary pseudomyogenic hemangioendothelioma of the vulva: a rare location for a rare entity

Diagnostic utility of FOSB immunohistochemistry in pseudomyogenic hemangioendothelioma and its histological mimics

Role of Next-Generation Sequencing as a Diagnostic Tool for the Evaluation of Bone and Soft-Tissue Tumors

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