FOXR1

Last update 08 May 2025

Basic Info

Synonyms

DLNB13, Forkhead box protein N5, Forkhead box protein R1

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Introduction

Transcription factor which acts as both an activator and a repressor (PubMed:34723967). Activates transcription of a number of genes including the heat shock chaperones HSPA1A and HSPA6 and the antioxidant NADPH-dependent reductase DHRS2 which are involved in protection against oxidative stress (PubMed:34723967). Required for normal brain development (By similarity).

100 Clinical Results associated with FOXR1

100 Translational Medicine associated with FOXR1

0 Patents (Medical) associated with FOXR1

Literatures (Medical) associated with FOXR1

01 Dec 2024·Genes, Chromosomes and Cancer

A Challenging Case of an Intraosseous Composite Hemangioendothelioma of the Occipital Bone With YAP1::FOXR1 Fusion

Letter

Author: Creytens, David ; Ferdinande, Liesbeth ; Cordier, Fleur ; Van der Meulen, Joni ; Loontiens, Siebe ; Van Dorpe, Jo

01 Jan 2024·Genes, Chromosomes and Cancer

Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions

Article

Author: Dermawan, Josephine K. ; Antonescu, Cristina R. ; Linos, Konstantinos ; Hameed, Meera ; Agaram, Narasimhan P. ; Pulitzer, Melissa ; Agaimy, Abbas

AbstractComposite hemangioendothelioma is a rare, locally aggressive, and rarely metastasizing vascular neoplasm which affects both children and adults. Recently, a number of gene fusions including YAP1::MAML2, PTBP1::MAML2, and EPC1::PHC2 have been detected in a small subset of cases with or without neuroendocrine expression. Herein, we present four additional cases with novel in‐frame fusions. The cohort comprises two females and two males with a wide age range at diagnosis (24–80 years). Two tumors were deep involving the right brachial plexus and mediastinum, while the remaining were superficial (right plantar foot and abdominal wall). The size ranged from 1.5 to 4.8 cm in greatest dimension. Morphologically, all tumors had an admixture of at least two architectural patterns including retiform hemangioendothelioma, hemangioma, epithelioid hemangioendothelioma, or angiosarcoma. The tumors were positive for endothelial markers CD31 (3/3), ERG (4/4), and D2‐40 (1/4, focal), while SMA was expressed in 2/3 highlighting the surrounding pericytes. Synaptophysin showed immunoreactivity in 2/3 cases. One patient had a local recurrence after 40 months, while two patients had no evidence of disease 4 months post‐resection. Targeted RNA sequencing detected novel in‐frame fusions in each of the cases: HSPG2::FGFR1, YAP1::FOXR1, ACTB::MAML2, and ARID1B::MAML2. The two cases with neuroendocrine expression occurred as superficial lesions and harbored YAP1::FOXR1 and ARID1B::MAML2 fusions. Our study expands on the molecular spectrum of this enigmatic tumor, further enhancing our current understanding of the disease.

01 May 2023·Histopathology

Expanding the molecular signatures of malignant ossifying fibromyxoid tumours with two novel gene fusions: PHF1::FOXR1 and PHF1::FOXR2

Article

Author: Wu, Jinhua ; Khoshnoodi, Pooria ; Burgess, Melissa ; Marker, Daniel ; Zilla, Megan L ; Surrey, Lea F ; John, Ivy ; Herradura, Armando ; Srivastava, Pooja ; Naous, Rana

AimsOssifying fibromyxoid tumor (OFMT) is a rare enigmatic tumor of uncertain differentiation that can be classified as typical, atypical, and malignant subtypes based on cellularity, nuclear grade, and mitotic activity. The majority of OFMTs, regardless of the risk of malignancy, harbor genetic translocations. We report two malignant OFMTs, including one with evidence of dedifferentiation, with novel genefusions.Methods and ResultsCase 1 was a 63‐year‐old male with a dedifferentiated OFMT arising in the right wrist, while case 2 was a 41‐year‐old male with a malignant OFMT presenting as a posterior mediastinal mass. Case 2 showed multifocal expression with EMA and synaptophysin, while desmin and S100 were absent in both tumors. NGS sequencing studies detected PHF1::FOXR1 and PHF1::FOXR2 gene fusions in cases 1 and 2, respectively. Despite aggressive regimens, both progressed with wide spread metastases resulting in death within six years of diagnosis.ConclusionsWe expand the genetic spectrum of OFMTs with two novel gene fusions, PHF1::FOXR1 and PHF1::FOXR2. These cases confirm the previously reported tendencies for OFMTs with rare variant fusions to demonstrate malignant behavior, unusual morphology, and non‐specific immunophenotype.

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FOXR1

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