ZFP36–FOSB fusion in a haemorrhagic epithelioid and spindle cell haemangioma of bone: is there a family of FOSB‐rearranged vascular neoplasms of the bone?

Keil, Felix; Dietmaier, Wolfgang; Hoffstetter, Patrick; Hillmann, Axel; Evert, Matthias

doi:10.1111/his.14002

Cited by 5 publications

(9 citation statements)

References 8 publications

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“…There is a considerable overlap between PMHE and the spindle cell variant of EH of bone. 18,19 Both tumors share similar clinical presentation, morphology, and immunophenotype, which make the distinction between them difficult and challenging. Both tumors commonly present as multifocal lesions, have prominent spindle cell component, and demonstrate immunoreactivity for cytokeratin and FOSB.…”

Section: Discussionmentioning

confidence: 99%

“…Both tumors commonly present as multifocal lesions, have prominent spindle cell component, and demonstrate immunoreactivity for cytokeratin and FOSB. 19 Currently, the main distinguishing feature is the ability to demonstrate vasoformative areas lined by "tombstone"-like cuboidal endothelial cells, a finding that is compatible with spindle cell EH. We were not able to demonstrate vasoformative areas in our case.…”

Section: Discussionmentioning

confidence: 99%

“…Although the tumor cells in EH can show nuclear reactivity for FOSB antibody, cytokeratin AE1/AE3 is usually negative or shows patchy weak positivity. There is a considerable overlap between PMHE and the spindle cell variant of EH of bone 18,19 . Both tumors share similar clinical presentation, morphology, and immunophenotype, which make the distinction between them difficult and challenging.…”

Section: Discussionmentioning

confidence: 99%

“…Both tumors share similar clinical presentation, morphology, and immunophenotype, which make the distinction between them difficult and challenging. Both tumors commonly present as multifocal lesions, have prominent spindle cell component, and demonstrate immunoreactivity for cytokeratin and FOSB 19 . Currently, the main distinguishing feature is the ability to demonstrate vasoformative areas lined by “tombstone”‐like cuboidal endothelial cells, a finding that is compatible with spindle cell EH.…”

Section: Discussionmentioning

confidence: 99%

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Pseudomyogenic hemangioendothelioma of bone with rare WWTR1‐FOSB fusion gene: Case report and literature review

Murshed

Torres‐Mora

Elsayed

et al. 2021

Clinical Case Reports

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Pseudomyogenic hemangioendothelioma (PMHE) is an uncommon vascular neoplasm of intermediate malignant potential that rarely arises in bone. SERPINE1-FOSB fusion gene occurs frequently in PMHE of bone; however, WWTR1-FOSB fusion gene is rarely reported. The prognostic and therapeutic significance of these gene rearrangements is unclear and needs to be investigated further. Pseudomyogenic hemangioendothelioma (PMHE) is a rare endothelial neoplasm of intermediate malignant potential that usually arises in the soft tissues of the lower and upper extremities. 1-4 Its occurrence in bone is a rare event. To the best of our knowledge, only 27 cases of primary PMHE of bone have been reported so far 4-17 (Table 1). Few of those reported cases were found to harbor the balanced translocation t(7;19)(q22;q13) producing fusion between SERPINE1 and FOSB genes, 10,12 and only one case was found to carry WWTR1-FOSB fusion gene. 17 Herein, we present the second case of primary PMHE of bone with WWTR1-FOSB fusion gene. 2 | CASE PRESENTATION A previously healthy 7-year-old girl presented to the clinic with intermittent pain of the right thigh for two-year duration. The pain was more severe at night. It was not associated with fever, weight loss, or other constitutional symptoms. Analgesics were given initially which relieved her symptoms temporarily; however, she started to feel pain at her right knee after an accident of falling. X-ray was performed, which revealed a well-demarcated radiolucent lytic lesion arising from the metaphysis of the right distal femur with cortical thinning. However, no periosteal reaction or soft tissue involvement was identified (Figure 1). A needle core

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Pseudomyogenic hemangioendothelioma of bone with rare WWTR1‐FOSB fusion gene: Case report and literature review

Murshed

Torres‐Mora

Elsayed

et al. 2021

Clinical Case Reports

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“…Although they account for less than 1% of adult cancer diagnoses, sarcomas encompass more than 50 pathological subtypes 2 . Spindle cell sarcoma (SCS) is one of subtype of sarcomas and little reported tumor 3 which could arise in any part of the body and is connective-tissue tumor that can grow rapidly [4][5][6] . The usual treatment for spindle cell sarcoma is surgery to remove the tumor.…”

Section: Introductionmentioning

confidence: 99%

A Novel ALK Fusion Gene (NSF-ALK) Identified in a Patient With Recurrent Spindle Cell Sarcoma Respond to Crizotinib: A Case Report

Jin¹,

Weng²,

Zhong³

et al. 2020

Preprint

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Background: Spindle cell sarcoma (SCS) is a rare malignant tumor which relapses quickly and has poor prognosis.Case presentation: We report a case of SCS deriving from the left side of chestpossessed a novel unreported ALK fusion gene named NSF-ALK found by Next Generation Sequencing (NGS) technology. Despite receiving three surgical resections, local recurrence occurred rapidly and distant brain metastasis was eventually observed in this patient. The subsequent administration of crizotinib1, an oral anaplastic lymphoma kinase inhibitor, resulted in dramatic tumor shrinkage and the patient entered a remission period that has been ongoing for more than 10 months.Conclusions: In summary, this study is the first to describe a novel NSF-ALK fusion in spindle cell sarcoma which has promising efficacy by crizotinib treatment. More importantly, the case also shows that next generation sequencing provids more information of mutation to guide treatment in clinical decisions by presenting molecular changes.

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Vascular Tumors of Bone

Hung¹

2021

Surgical Pathology Clinics

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ZFP36–FOSB fusion in a haemorrhagic epithelioid and spindle cell haemangioma of bone: is there a family of FOSB‐rearranged vascular neoplasms of the bone?

Cited by 5 publications

References 8 publications

Pseudomyogenic hemangioendothelioma of bone with rare WWTR1‐FOSB fusion gene: Case report and literature review

Pseudomyogenic hemangioendothelioma of bone with rare WWTR1‐FOSB fusion gene: Case report and literature review

A Novel ALK Fusion Gene (NSF-ALK) Identified in a Patient With Recurrent Spindle Cell Sarcoma Respond to Crizotinib: A Case Report

Vascular Tumors of Bone

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