Imaging Biomarkers for Adult Medulloblastomas: Genetic Entities May Be Identified by Their MR Imaging Radiophenotype

Keil, Vera C.; Warmuth‐Metz, Monika; Reh, Christian; Enkirch, Simon Jonas; Hau, Peter; Beier, Dagmar; Jones, David; Pietsch, Torsten; Schild, Hans H.; Hattingen, Elke; Hau, Peter

doi:10.3174/ajnr.a5313

Cited by 23 publications

(19 citation statements)

References 34 publications

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“…In an imaging study exclusively involving children with WNT-subgroup medulloblastoma (n = 16), Patay et al [26] reported the involvement of specific sites such as foramen of Luschka (75%), IVth ventricle (69%), cisterna magna (31%) and CPA cistern (19%). The anatomic location of WNT-subgroup tumors was found to be similar even in adult WNT-subgroup tumors (n = 4), with 75% being or reaching the midline in the IVth ventricle [27] . In an exclusive cohort of adult medulloblastomas, Zhao et al [28] reported midline vermian location in 5 of 17 (29%) WNT-pathway tumors and lateral extension into cerebellar hemisphere or peduncle in the remaining 12 (71%) patients.…”

Section: Anatomic Locationmentioning

confidence: 85%

“…In the series by Patay et al [26] , hemorrhage was appreciated on pre-operative imaging in 31% of children with WNT-subgroup medulloblastoma (n = 16). On the contrary, Keil et al [27] , reported absence of hemorrhage on imaging in all 4 cases of adult WNT-pathway medulloblastoma. However, in another study involving adult patients [28] , hemorrhage or mineralization was reported in 11 of 17 (67%) WNT-pathway medulloblastoma.…”

Section: Intra-tumoral Hemorrhagementioning

confidence: 93%

“…WNT subgroup tumors are usually smaller in size and volume compared to other subgroups which may be reflective of slow growth kinetics and indolent biology. In their series of adult medulloblastoma, Keil et al [27] reported the median tumor volume to be 5.6 cm 3 for WNT-subgroup tumors compared to 30.6 cm 3 and 25 cm 3 for SHH and group 4 medulloblastoma respectively. The authors also reported the absence of hydrocephalus, macrometastasis, and hemorrhage as having very high specificity and positive predictive value for WNT-subgroup medulloblastoma.…”

Section: Other Imaging Featuresmentioning

confidence: 99%

“…In the last decade or so, several investigators from across the world have tried to correlate semantic imaging features with molecular subgrouping in medulloblastoma. All such studies [21][22][23][24][25][26][27][28][29][30][31] reporting on the imaging genomics of medulloblastoma are briefly summarized in Table 1. While it is quite clear that no single imaging feature is pathognomonic of any particular subgroup, certain imaging characteristics are much more prevalent in one subgroup compared to others and may even be highly specific for an individual molecular subgroup.…”

Section: Specific Imaging Features In Medulloblastoma Subgroupsmentioning

confidence: 99%

“…Involvement of foramen of Luschka, IVth ventricle, cisterna magna, and CPA was seen in WNT-MB In 87% of patients, contrast enhancement involved entire tumor Intra-tumoral hemorrhage was seen in 31% of patients Keil et al . [27] , 2017 Adult MB…”

Section: Wnt Mb 16mentioning

confidence: 99%

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Radiogenomics of medulloblastoma: imaging surrogates of molecular biology

Dasgupta¹,

Gupta²

2018

JTGG

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Medulloblastoma is a heterogeneous disease comprising four molecular subgroups-wingless (WNT), sonic hedge hog (SHH), group 3, and group 4, with distinct developmental origins, unique transcriptional profiles, diverse phenotypes, and varying clinical outcomes. Magnetic resonance imaging (MRI) is the preferred first-line imaging modality in the diagnosis and staging of suspected brain tumors including medulloblastoma. It is being increasingly recognized that imaging features reflect underlying disease biology that can serve as independent predictive and prognostic biomarkers. Radiogenomics is an emerging field of research that aims to define relationships between non-invasive imaging features (radio-phenotypes) and genomic data/molecular markers (molecular phenotypes). Recent studies have reported encouraging data regarding imaging genomics of medulloblastoma with certain MRI features correlating with specific molecular subgroups. These include lateralized cerebellar location for SHH-subgroup; cerebellopontine angle location for WNT-subgroup; and inferior location with dilation of superior recess of the IVth ventricle for group 4 tumors. Minimal enhancement of primary tumor and ependymal metastases (infundibular/suprasellar) with mismatching pattern is a specific feature of group 4 medulloblastoma. A 5-metabolite signature profile on magnetic resonance spectroscopy reliably differentiates SHH-subgroup from non-WNT/non-SHH medulloblastoma. SHH-specific binary nomogram (location on horizontal and vertical axis, relationship with dorsal brainstem, pattern of contrast-enhancement, and peri-tumoral edema as discriminating imaging features) is associated with excellent predictive accuracy, followed by group 4-specific nomogram, with suboptimal accuracy of WNT and group 3-specific nomograms. The advent of deep machine-learning techniques and convoluted artificial neural networks should provide unique opportunities to further improve the accuracy of such radiogenomic correlation and prediction.

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Section: Anatomic Locationmentioning

confidence: 85%