KIAA1549:BRAF Fusion Gene in Pediatric Brain Tumors of Various Histogenesis
PEDIATRIC BLOOD & CANCER
Authors: Antonelli, Manila; Badiali, Manuela; Moi, Loredana; Buttarelli, Francesca R.; Baldi, Caterina; Massimino, Maura; Sanson, Marc; Giangaspero, Felice
Abstract
The KIAA1549:BRAF fusion gene is considered a driver genetic event in pilocytic astrocytoma. We investigated a series of 69 pediatric brain neoplasms of diverse histogenesis and grade using the RT-PCR and sequencing. We detected the KIAA1549:BRAF fusion gene in five of 34 non-PA tumors (14.7%), that is, one glioblastoma, one anaplastic astrocytoma, one anaplastic pleomorphic xanthoastrocytoma, 1 ependymoma, and 1 Atypical Teratoid Rhabdoid Tumor. Our study showed that the K-B, although uncommon, it can be detected in non-PA tumors of various histogenesis and grading. Pediatr Blood Cancer 2015;62:724-727. (c) 2014 Wiley Periodicals, Inc.
Molecular pathology in the diagnosis of bone tumors: current concepts
PATHOLOGE
Authors: Baumhoer, Daniel; Hoeller, Sylvia
Abstract
The integrative evaluation of histology and corresponding imaging is essential for the classification of bone tumors. Until a few years ago, there were hardly any molecular markers that could be used for diagnostic purposes. However, exome- and genome-wide sequencing analyses have since uncovered a number of tumor-specific aberrations that can be very helpful in ambiguous cases. In addition to characteristic gene mutations (e.g. H3F3A and H3F3B in giant-cell tumors and chondroblastomas), the detection of fusion transcripts (e.g. structural rearrangements in the AP-1 transcription factors FOS and FOSB in osteoid osteomas and osteoblastomas) plays an increasing role. The article gives an overview of the current state of knowledge of the most important alterations in bone tumors.