Relationship between whole‐body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis

Abstract

Background: Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis share a

Current whole-body MRI applications in the neurofibromatoses

“…After full review of the articles, 14 studies met all inclusion criteria. [10][11][12][13][14][15][16][17][18][19][20][21][22][23] Two studies were excluded as they discussed extratumoral findings (i.e., incidental findings on WB-MRI in NF or marrow changes in patients with NF treated with imatinib mesylate 22,23 ). Hence, the final analysis included 12 studies.…”

“…Hence, the final analysis included 12 studies. [10][11][12][13][14][15][16][17][18][19][20][21] WB-MRI acquisition protocols. Table 1 summarizes the information extracted from the investigations that met inclusion criteria.…”

“…Five of the 12 published investigations in this study utilized MedX software (v3.42; Sensor Systems, Inc., Sterling, VA), a semi-automated method for segmentation and measurement with a heuristicsbased algorithm for volumetric analysis, 14,15,17,18,21 while 5 of the 12 publications used a computerized 3D-volumetry method developed for WB-MRI using the dynamic threshold level set method. [10][11][12]16,19 There are limited data with regards to characterization of neoplasms as benign or malignant and no data to date Abbreviations: ADC 5 apparent diffusion coefficient; DWI 5 diffusion-weighted imaging; FOV 5 field of view; IR 5 inversion recovery; NF 5 neurofibromatosis; PNST 5 peripheral nerve sheath tumors; STIR 5 short tau inversion recovery; TE 5 echo time; TR 5 repetition time; VIBE 5 T1-weighted sequences (volume interpolated breath-hold examination); WB-MRI 5 whole-body MRI. a A plane of imaging is not specified.…”

“…Table 1 summarizes the information extracted from the investigations that met inclusion criteria. Of the 12 publications, 11 employed 1.5T magnet strength [10][11][12][14][15][16][17][18][19][20][21] ; only 1 study used 3.0T magnet.13 One study performed at 3.0T acquired volumetric 3D images with isotropic resolution in the coronal plane and generated multiplanar reformations (MPR) in sagittal and axial plane with good diagnostic quality. 13 The remainder of the WB-MRI investigations utilized 2D acquisitions in the coronal plane alone, or in both coronal and axial planes.…”

“…It has been extensively investigated for the detection and staging of visceral and osseous tumors [1][2][3][4][5][6] and is well-suited to tumor syndromes including neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN), [7][8][9] as these patients often have a high burden of tumors as well as large tumors that cross anatomic planes (figure). WB-MRI has been used to evaluate tumor burden and to characterize neoplasms in patients with NF syndromes [10][11][12][13][14][15][16][17][18][19][20][21][22][23] and is being used in some clinical trials to evaluate response to therapy (NCT01207687). A uniform image acquisition protocol and interpretation method would enable WB-MRI to be used as a key endpoint to assess tumor treatment response in multicenter clinical trials for NF-associated peripheral nerve sheath tumors (PNST).…”