Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis

被引:74
作者
Ahlawat, Shivani [1 ]
Blakeley, Jaishri O. [2 ,3 ]
Langmead, Shannon [2 ]
Belzberg, Allan J. [3 ]
Fayad, Laura M. [1 ,4 ,5 ]
机构
[1] Johns Hopkins Univ, Russell H Morgan Dept Radiol & Radiol Sci, Sch Med, 601 North Caroline St,JHOC 3rd Floor, Baltimore, MD 21287 USA
[2] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA
[3] Johns Hopkins Univ, Sch Med, Dept Neurosurg, Baltimore, MD 21205 USA
[4] Johns Hopkins Univ, Sch Med, Dept Orthopaed Surg, Baltimore, MD USA
[5] Johns Hopkins Univ, Sch Med, Dept Oncol, Baltimore, MD 21205 USA
关键词
Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Schwannomatosis (SWN); Magnetic resonance imaging (MRI); Diffusion-weighted imaging (DWI); Apparent diffusion coefficient (ADC) values; Imaging biomarkers; Malignant peripheral nerve sheath tumor (MPNST); NERVE SHEATH TUMORS; WHOLE-BODY MRI; POSITRON-EMISSION-TOMOGRAPHY; BILATERAL ACOUSTIC NEUROFIBROMATOSIS; TERM-FOLLOW-UP; PLEXIFORM NEUROFIBROMAS; BREAST-CANCER; DIAGNOSTIC-CRITERIA; F-18-FDG PET/CT; FDG-PET;
D O I
10.1007/s00256-019-03290-1
中图分类号
R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学(修复外科学)];
学科分类号
摘要
Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are three clinically distinct tumor predisposition syndromes with a shared tendency to develop peripheral and central nervous system neoplasms. Disease expression and complications of NF1, NF2, and SWN are highly variable, necessitating a multidisciplinary approach to care in order to optimize outcomes. This review will discuss the imaging appearance of NF1, NF2, and SWN and highlight the important role that imaging plays in informing management decisions in people with tumors associated with these syndromes. Recent technological advances, including the role of both whole-body and localized imaging strategies, routine anatomic and advanced magnetic resonance (MR) imaging sequences such as diffusion-weighted imaging (DWI) with quantitative apparent diffusion coefficient (ADC) mapping, and metabolic imaging techniques (MR spectroscopy and positron emission testing) are discussed in the context of the diagnosis and management of people with NF1, NF2, and SWN based on the most up-to-date clinical imaging studies.
引用
收藏
页码:199 / 219
页数:21
相关论文
共 88 条
[11]   Value of PET in the assessment of patients with neurofibromatosis type I [J].
Bredella, Miriam A. ;
Torriani, Martin ;
Hornicek, Francis ;
Ouellette, Hugue A. ;
Palmer, William E. ;
Williams, Ziv ;
Fishman, Allan J. ;
Plotkin, Scott R. .
AMERICAN JOURNAL OF ROENTGENOLOGY, 2007, 189 (04) :928-935
[12]   Tumor Burden in Patients with Neurofibromatosis Types 1 and 2 and Schwannomatosis: Determination on Whole-Body MR Images [J].
Cai, Wenli ;
Kassarjian, Ara ;
Bredella, Miriam A. ;
Harris, Gordon J. ;
Yoshida, Hiroyuki ;
Mautner, Victor F. ;
Wenzel, Ralph ;
Plotkin, Scott R. .
RADIOLOGY, 2009, 250 (03) :665-673
[13]   A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas [J].
Caltabiano, Rosario ;
Magro, Gaetano ;
Polizzi, Agata ;
Pratico, Andrea Domenico ;
Ortensi, Andrea ;
D'Orazi, Valerio ;
Panunzi, Andrea ;
Milone, Pietro ;
Maiolino, Luigi ;
Nicita, Francesco ;
Capone, Gabriele Lorenzo ;
Sestini, Roberta ;
Paganini, Irene ;
Muglia, Mariella ;
Cavallaro, Sebastiano ;
Lanzafame, Salvatore ;
Papi, Laura ;
Ruggieri, Martino .
CHILDS NERVOUS SYSTEM, 2017, 33 (06) :933-940
[14]   Evaluation of F18-deoxyglucose positron emission tomography (FDG-PET) to assess the nature of neurogenic tumours [J].
Cardona, S ;
Schwarzbach, M ;
Hinz, U ;
Dimitrakopoulou-Strauss, A ;
Attigah, N ;
Mechtersheimer, G ;
Lehnert, T .
EUROPEAN JOURNAL OF SURGICAL ONCOLOGY, 2003, 29 (06) :536-541
[15]   18F-FDG PET/CT Qualitative and Quantitative Evaluation in Neurofibromatosis Type 1 Patients for Detection of Malignant Transformation: Comparison of Early to Delayed Imaging With and Without Liver Activity Normalization [J].
Chirindel, Alin ;
Chaudhry, Muhammad ;
Blakeley, Jaishri O. ;
Wahl, Richard .
JOURNAL OF NUCLEAR MEDICINE, 2015, 56 (03) :379-385
[16]   NCCN Guidelines® Insights Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017 Featured Updates to the NCCN Guidelines [J].
Daly, Mary B. ;
Pilarski, Robert ;
Berry, Michael ;
Buys, Saundra S. ;
Farmer, Meagan ;
Friedman, Susan ;
Garber, Judy E. ;
Kauff, Noah D. ;
Khan, Seema ;
Klein, Catherine ;
Kohlmann, Wendy ;
Kurian, Allison ;
Litton, Jennifer K. ;
Madlensky, Lisa ;
Merajver, Sofia D. ;
Offit, Kenneth ;
Pal, Tuya ;
Reiser, Gwen ;
Shannon, Kristen Mahoney ;
Swisher, Elizabeth ;
Vinayak, Shaveta ;
Voian, Nicoleta C. ;
Weitzel, Jeffrey N. ;
Wick, Myra J. ;
Wiesner, Georgia L. ;
Dwyer, Mary ;
Darlow, Susan .
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK, 2017, 15 (01) :9-19
[17]   Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update: Surveillance, Treatment Indications, and Biomarkers of Vision [J].
de Blank, Peter M. K. ;
Fisher, Michael J. ;
Liu, Grant T. ;
Gutmann, David H. ;
Listernick, Robert ;
Ferner, Rosalie E. ;
Avery, Robert A. .
JOURNAL OF NEURO-OPHTHALMOLOGY, 2017, 37 :S23-S32
[18]   Conventional and Functional MR Imaging of Peripheral Nerve Sheath Tumors: Initial Experience [J].
Demehri, S. ;
Belzberg, A. ;
Blakeley, J. ;
Fayad, L. M. .
AMERICAN JOURNAL OF NEURORADIOLOGY, 2014, 35 (08) :1615-1620
[19]   Comparative Effectiveness of 18F-FDG PET/CT Versus Whole-Body MRI for Detection of Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1 [J].
Derlin, Thorsten ;
Tornquist, Katharina ;
Muenster, Silvia ;
Apostolova, Ivayla ;
Hagel, Christian ;
Friedrich, Reinhard E. ;
Wedegaertner, Ulrike ;
Mautner, Victor F. .
CLINICAL NUCLEAR MEDICINE, 2013, 38 (01) :E19-E25
[20]   Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas [J].
Dombi, Eva ;
Baldwin, Andrea ;
Marcus, Leigh J. ;
Fisher, Michael J. ;
Weiss, Brian ;
Kim, AeRang ;
Whitcomb, Patricia ;
Martin, Staci ;
Aschbacher-Smith, Lindsey E. ;
Rizvi, Tilat A. ;
Wu, Jianqiang ;
Ershler, Rachel ;
Wolters, Pamela ;
Therrien, Janet ;
Glod, John ;
Belasco, Jean B. ;
Schorry, Elizabeth ;
Brofferio, Alessandra ;
Starosta, Amy J. ;
Gillespie, Andrea ;
Doyle, Austin L. ;
Ratner, Nancy ;
Widemann, Brigitte C. .
NEW ENGLAND JOURNAL OF MEDICINE, 2016, 375 (26) :2550-2560