Germline loss-of-function mutations of the VHL tumor suppressor gene cause von Hippel–
Lindau disease, which is associated with an increased risk of hemangioblastomas, clear cell …

Mutational signature analysis is commonly performed in cancer genomic studies. Here, we
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …

Abstract Purpose of Review In this review, we discuss the key molecular and clinical
developments in VHL disease that have the potential to impact on the natural history of the …

Intramedullary spinal cord tumors (IMSCTs) are rare neoplasms that have limited treatment
options and are associated with high rates of morbidity and mortality. To better understand …

Revised: 2 October 2015/Accepted: 2 October 2015/Published online: 20 October 2015©
The Author (s) 2015. This article is published with open access at Springerlink. com and …

Simple Summary Cancers are characterized by accumulation of genetic mutations in key
cell cycle regulators that alter or disable the function of these genes. Such mutations can be …

Background Carotid body tumor (CBT) is a form of head and neck paragangliomas
(HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly …

Background Although inactivation of the von Hippel–Lindau gene (VHL), located on
chromosome 3p25, is considered to be a major cause of hemangioblastomas (HBs), the …

Extraneuraxial hemangioblastoma occurs in nervous paraneuraxial structures, somatic
tissues, and visceral organs, as part of von Hippel-Lindau disease (VHLD) or in sporadic …

Introduction Dedifferentiated liposarcoma (DDLPS) is a common form of liposarcoma with
challenging treatment modalities. Pan-TRK immunopositivity can be often observed without …