Lazaro De Lima1, Mehmet Beşir Sürme1, Marco Gessi2,3, Angela Mastronuzzi4, Evelina Miele4, Gianpiero Tamburrini1,3, Luca Massimi5,6,7. 1. Neurochirurgia Infantile, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. 2. Unità di Neuropatologia, Divisione di Patologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. 3. Università Cattolica del Sacro Cuore, Rome, Italy. 4. Oncoematologia-Terapia Cellulare e Genica dei Tumori Pediatrici, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy. 5. Neurochirurgia Infantile, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. lmassmi@email.it. 6. Università Cattolica del Sacro Cuore, Rome, Italy. lmassmi@email.it. 7. Pediatric Neurosurgery - A. Gemelli Hospital, Largo A. Gemelli, 8, 00168, Rome, Italy. lmassmi@email.it.
Abstract
INTRODUCTION: High-grade neuroepithelial tumor with BCOR alteration (HGNET BCOR) has been recently classified as a new category of tumors among those previously known as PNET. They are molecularly characterized by the mutation of the BCOR gene, a corepressor of BCL6 a gene (which has an important role in immune responses). Only case reports and very small series have been published so far; therefore, their behavior and management are still under investigation. The goal of the present case-based review is to provide a summary about the state of the art on these tumors. METHODS AND RESULTS: The pertinent review has been reviewed, and an exemplary case has been reported (15-month-old boy with large HGNET BCOR of the left cerebellopontine angle). So far, 24 cases have been described, with a 5.5 mean age at diagnosis and a 1.4 male/female ratio. The cerebellar hemisphere is the more frequently involved region. No metastases are usually detected at diagnosis, though they are common in case of tumor recurrence. There are no specific radiological or pathological features to differentiate HGNET BCOR from other brain malignant neuroepithelial tumors so that the differential diagnosis is obtained by DNA methylation profiling. The management possibly relies on surgery and (high dose) chemotherapy and radiotherapy but without a dedicated protocol yet. The overall survival after 48-month follow-up is 50%. A gross total resection, which is mandatory for a better outcome, is achievable in the majority of cases. CONCLUSIONS: The clinical research on HGNET BCOR is just at the beginning. New targets and wide-ranging clinical trials are needed to get an optimal management.
INTRODUCTION: High-grade neuroepithelial tumor with BCOR alteration (HGNET BCOR) has been recently classified as a new category of tumors among those previously known as PNET. They are molecularly characterized by the mutation of the BCOR gene, a corepressor of BCL6 a gene (which has an important role in immune responses). Only case reports and very small series have been published so far; therefore, their behavior and management are still under investigation. The goal of the present case-based review is to provide a summary about the state of the art on these tumors. METHODS AND RESULTS: The pertinent review has been reviewed, and an exemplary case has been reported (15-month-old boy with large HGNET BCOR of the left cerebellopontine angle). So far, 24 cases have been described, with a 5.5 mean age at diagnosis and a 1.4 male/female ratio. The cerebellar hemisphere is the more frequently involved region. No metastases are usually detected at diagnosis, though they are common in case of tumor recurrence. There are no specific radiological or pathological features to differentiate HGNET BCOR from other brain malignant neuroepithelial tumors so that the differential diagnosis is obtained by DNA methylation profiling. The management possibly relies on surgery and (high dose) chemotherapy and radiotherapy but without a dedicated protocol yet. The overall survival after 48-month follow-up is 50%. A gross total resection, which is mandatory for a better outcome, is achievable in the majority of cases. CONCLUSIONS: The clinical research on HGNET BCOR is just at the beginning. New targets and wide-ranging clinical trials are needed to get an optimal management.
Authors: Zhichao Wu; Sharika Rajan; Hye-Jung Chung; Mark Raffeld; Pavalan Panneer Selvam; Leonille Schweizer; Arie Perry; David Samuel; Caterina Giannini; Aditya Ragunathan; Matthew P Frosch; Michael S Marshall; Daniel R Boué; Kliment Donev; Stewart G Neill; Igor Fernandes; Adam Resnick; Brian Rood; Thomas J Cummings; Anne F Buckley; Linda Szymanski; Osorio Lopes Abath Neto; Leor Zach; Howard Colman; Samuel Cheshier; Jennifer Ziskin; Manoj Tyagi; David Capper; Zied Abdullaev; Patrick J Cimino; Martha Quezado; Drew Pratt; Kenneth Aldape Journal: Acta Neuropathol Date: 2022-10-06 Impact factor: 15.887
Authors: A Tietze; K Mankad; M H Lequin; L Ivarsson; D Mirsky; A Jaju; M Kool; K V Hoff; B Bison; U Löbel Journal: AJNR Am J Neuroradiol Date: 2022-09-22 Impact factor: 4.966