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Clinical Trial
. 2014 Aug;61(8):1440-4.
doi: 10.1002/pbc.24835. Epub 2013 Nov 1.

Whole-body magnetic resonance imaging (WB-MRI) as surveillance for subsequent malignancies in survivors of hereditary retinoblastoma: a pilot study

Danielle Novetsky Friedman  1 , Eric Lis, Charles A Sklar, Kevin C Oeffinger, Marina Reppucci, Megan Harlan Fleischut, Jasmine H Francis, Brian Marr, David H Abramson, Ira J Dunkel
Affiliations
Clinical Trial

Whole-body magnetic resonance imaging (WB-MRI) as surveillance for subsequent malignancies in survivors of hereditary retinoblastoma: a pilot study

Danielle Novetsky Friedman et al. Pediatr Blood Cancer. 2014 Aug.

Abstract

Background: Individuals with hereditary retinoblastoma (RB) are at very high risk of developing subsequent malignant neoplasms (SMNs) of which osteosarcoma (OS) is one of the most common. We hypothesized that annual surveillance using whole-body magnetic resonance imaging (WB-MRI) in asymptomatic survivors of hereditary RB would detect SMN of the bone and soft tissues at an early stage.

Procedure: Retrospective review of the results of a WB-MRI screening program in hereditary RB survivors from February 2008 to August 2012. The primary outcome was to determine the sensitivity and specificity of WB-MRI in detecting SMNs.

Results: Twenty-five patients had at least one WB-MRI performed (range: 1-5). First WB-MRI was performed at a median age of 16 years (range: 8-25 years). WB-MRI detected new osseous abnormalities suspicious for malignancy in five patients: two were diagnosed with localized high-grade OS of the extremity and three were found to have benign osseous abnormalities after dedicated imaging (n = 5/5) and/or biopsy (n = 3/5). One patient was diagnosed with secondary OS 3 months after a normal screening WB-MRI exam. Among a total of 41 WB-MRI screening tests performed in survivors of hereditary RB, the sensitivity of detecting SMN was 66.7% and the specificity was 92.1%.

Conclusions: Preliminary results suggest that annual WB-MRI surveillance detects SMN in survivors of hereditary RB, but with modest sensitivity. Further study is needed to assess the performance of annual surveillance WB-MRIs and whether this modality decreases SMN-related mortality in RB survivors.

Keywords: pediatric oncology; retinoblastoma; screening; survivors; whole-body MRI.

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Figures

Figure 1
Figure 1
Abnormal whole-body MRI (WB-MRI) screening results in all patients
Figure 2
Figure 2
Twenty-one year old young women with history of bilateral retinoblastoma. Coronal T1 (left) and T2 STIR (right) images through the femurs from a whole body MRI show indeterminate marrow abnormality within the distal right femoral metaphysis. The patient was later determined to have a benign bone infarct on dedicated femur MRI.
Figure 3
Figure 3
Twelve year old boy with history of bilateral retinoblastoma as well as previous metastatic disease to the right femur. Whole-body MRI (WB-MRI) showed new signal abnormality within the left tibial shaft on T1-weighted sequences (left) and T2 STIR (right). The patient later reported a several week history of left leg pain. Biopsy revealed a diagnosis of osteosarcoma of the left tibia.
See this image and copyright information in PMC

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