Rhabdomyosarcoma With Epithelioid Features And <i>NSD3::FOXO1</i> Fusion: Evidence For Reconsideration Of Previously Reported <i>FOXO1::FGFR1</i> Fusion

Rakheja, Dinesh; Park, Jason; Yang, Mary; Martinez, Diana P; Koduru, Prasad; Wilson, Kathleen; Garcia, Rolando; Uddin, Naseem

doi:10.1177/10668969221098084

Cited by 5 publications

(2 citation statements)

References 59 publications

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“…16 FOXO1 is involved in various human neoplasms including PAX3/7::FOXO1 in alveolar rhabdomyosarcoma and acute myeloid leukemia. 9 Additional types of rhabdomyosarcomas with unique FOXO1 fusions have also been reported, including a recent case report of a widely metastatic rhabdomyosarcoma with epithelioid features found to have a novel NSD3::FOXO1 fusion 17 and a small series of 3 deep, paraspinal, well-differentiated rhabdomyosarcomas with SRF::FOXO1 and SRF::NCOA1 fusions. 18 There are also case reports of myoepithelioma-like hyalinizing epithelioid tumor found to have OGT::FOXO fusions including fusions with FOXO1 and FOXO3 .…”

Section: Discussionmentioning

confidence: 99%

Cellular Cutaneous Epithelioid Hemangioma Harboring the Rare GATA6::FOXO1 Gene Fusion

Tepp,

Agaram,

Chang

et al. 2024

The American Journal of Dermatopathology

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Epithelioid hemangioma (EH) is a benign vascular tumor displaying diverse histomorphologies. Among these, one EH subtype comprises cellular sheets of atypical epithelioid cells, posing potential challenges in distinguishing it from malignant vascular lesions. In this case report, we present a cutaneous cellular EH that carries the rare GATA6::FOXO1 gene fusion, a recent discovery. Our aim is to provide an updated insight into the evolving knowledge of EHs while delving into the histologic and molecular characteristics of the primary differential diagnoses.

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Section: Discussionmentioning

confidence: 99%

Cellular Cutaneous Epithelioid Hemangioma Harboring the Rare GATA6::FOXO1 Gene Fusion

Tepp,

Agaram,

Chang

et al. 2024

The American Journal of Dermatopathology

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“…FGFR1 amplification and gene fusions have also been described in RMS with an active role cancer cell proliferation [ 48 , 49 ]. However, opposite expression patterns have been reported [ 50 , 51 ].…”

Section: Protein Kinases In Pediatric Oncology and Their Association ...mentioning

confidence: 99%

Drugging Hijacked Kinase Pathways in Pediatric Oncology: Opportunities and Current Scenario

et al. 2023

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Childhood cancer is considered rare, corresponding to ~3% of all malignant neoplasms in the human population. The World Health Organization (WHO) reports a universal occurrence of more than 15 cases per 100,000 inhabitants around the globe, and despite improvements in diagnosis, treatment and supportive care, one child dies of cancer every 3 min. Consequently, more efficient, selective and affordable therapeutics are still needed in order to improve outcomes and avoid long-term sequelae. Alterations in kinases’ functionality is a trademark of cancer and the concept of exploiting them as drug targets has burgeoned in academia and in the pharmaceutical industry of the 21st century. Consequently, an increasing plethora of inhibitors has emerged. In the present study, the expression patterns of a selected group of kinases (including tyrosine receptors, members of the PI3K/AKT/mTOR and MAPK pathways, coordinators of cell cycle progression, and chromosome segregation) and their correlation with clinical outcomes in pediatric solid tumors were accessed through the R2: Genomics Analysis and Visualization Platform and by a thorough search of published literature. To further illustrate the importance of kinase dysregulation in the pathophysiology of pediatric cancer, we analyzed the vulnerability of different cancer cell lines against their inhibition through the Cancer Dependency Map portal, and performed a search for kinase-targeted compounds with approval and clinical applicability through the CanSAR knowledgebase. Finally, we provide a detailed literature review of a considerable set of small molecules that mitigate kinase activity under experimental testing and clinical trials for the treatment of pediatric tumors, while discuss critical challenges that must be overcome before translation into clinical options, including the absence of compounds designed specifically for childhood tumors which often show differential mutational burdens, intrinsic and acquired resistance, lack of selectivity and adverse effects on a growing organism.

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Primary cutaneous rhabdomyosarcoma with EWSR1/FUS::TFCP2 fusion: four new cases with distinctive morphology, immunophenotypic, and genetic profile

Machado,

Wardelmann,

Zhao

et al. 2024

Virchows Arch

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Rhabdomyosarcoma With Epithelioid Features And NSD3::FOXO1 Fusion: Evidence For Reconsideration Of Previously Reported FOXO1::FGFR1 Fusion

Cited by 5 publications

References 59 publications

Cellular Cutaneous Epithelioid Hemangioma Harboring the Rare GATA6::FOXO1 Gene Fusion

Cellular Cutaneous Epithelioid Hemangioma Harboring the Rare GATA6::FOXO1 Gene Fusion

Drugging Hijacked Kinase Pathways in Pediatric Oncology: Opportunities and Current Scenario

Primary cutaneous rhabdomyosarcoma with EWSR1/FUS::TFCP2 fusion: four new cases with distinctive morphology, immunophenotypic, and genetic profile

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