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Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis.
Genes Chromosomes Cancer
January 2025
Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Infantile myofibromatosis (IM) comprises a wide clinical spectrum, ranging from solitary or multicentric lesions to generalized life-threatening forms. IM is mostly linked to germline or somatic heterozygous mutations in the PDGFRβ tyrosine kinase, encoded by the PDGFRB gene. Treatments for IM range from wait and see approach to systemic chemotherapy, according to the clinical context.
View Article and Find Full Text PDFIntravenous immunoglobulin (IVIG) is an immunomodulatory therapy derived from pooled donor immunoglobulins and used for treatment of various autoimmune conditions. Here we report the diagnosis and management of IVIG-induced chronic severe neutropenia with absolute neutrophil count <0.5×10/µL in a patient with multifocal motor neuropathy.
View Article and Find Full Text PDFManagement of asynchronous multifocal adult glioblastoma with loss of BRAF -mutant clonality: a case report.
Acta Neuropathol Commun
January 2025
Department of Neuro-Oncology, Columbia University Irving Medical Center, 710 W. 168th Street, New York, NY, 10032, USA.
Glioblastoma (GBM) classification involves a combination of histological and molecular signatures including IDH1/2 mutation, TERT promoter mutation, and EGFR amplification. Non-canonical mutations such as BRAF, found in 1-2% of GBMs, activate the MEK-ERK signaling pathway. This mutation can be targeted by small molecule inhibitors, offering therapeutic potential for GBM.
View Article and Find Full Text PDFMeningioma in the fourth ventricle in 2 cats.
J Vet Diagn Invest
January 2025
Department of Veterinary Pathology, College of Veterinary Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Feline meningiomas typically arise on the surface of the brain but can occur in the third ventricle. Meningiomas in the fourth ventricle have not been reported in cats, to our knowledge. Here, we describe the clinical and pathologic findings of meningioma in the fourth ventricle in 2 cats.
View Article and Find Full Text PDFThe bronchopleural fistula (BPF) is a pathological passageway between the bronchus and the pleural cavity. Diagnosing and localising BPF can be challenging, and the traditional retrograde methylene blue (MB) perfusion method may fail to identify multifocal BPFs. This article reports a novel method for locating multifocal BPFs in patients undergoing concurrent empyema debridement.
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