MRI Surrogates for Molecular Subgroups of Medulloblastoma

Perreault, Sébastien; Ramaswamy, Vijay; Achrol, Achal S.; Chao, K.; Liu, T. T.; Shih, David; Remke, Marc; Schubert, Simone; Bouffet, Éric; Fisher, Paul G.; Partap, Sonia; Vogel, Hannes; Taylor, Michael D.; Cho, Y. J.; Yeom, Kristen W.

doi:10.3174/ajnr.a3990

Cited by 257 publications

(226 citation statements)

References 27 publications

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“…Wnt MB is the smallest subgroup (10%) and typically arises from the dorsal brainstem and fourth ventricle as a result of activation of the WNT pathway, vital in tumor growth. It could also extend to the cerebello-pontine angle (CPA) (12). Wnt MB has the best prognosis with standard therapy.…”

Section: Discussionmentioning

confidence: 99%

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Medulloblastoma with Suprasellar Extension and Atypical Presentation

et al. 2017

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A 6-year-old boy was referred with symptoms of right partial ptosis, blurred vision and a two-week history of poor coordination and frequent falls. No symptoms of raised intracranial pressure were demonstrated. Imaging showed a large sella mass with extension into the posterior fossa and suprasellar region, suggestive of a craniopharyngioma. Histopathological examination of the postsurgical resection specimen revealed a small blue cell tumor consistent with a medulloblastoma. This case aims to highlight a posterior fossa tumor with an unusual spread and thus clinical presentation.Keywords: Medulloblastoma, Pediatrics Case PresentationA 6-year-old boy was referred to our ophthalmology unit from a district hospital for further investigation on his symptoms of blurred vision and right partial ptosis of two weeks duration. He initially presented to the district hospital following a fall from a staircase. Further history from the child's father revealed that the child seemed uncoordinated. He had fallen several times in the previous two weeks. He dragged his left foot when walking suggesting a left lower limb weakness. He denied any headache or vomiting.On examination, there was a relative afferent pupillary defect over the right eye with partial ptosis and the eyeball turned outward and downward. There was pallor of the optic disc suggestive of compression of the optic nerve. The left fundus examination was normal.Extra ocular muscle movement examination of the right eye showed superior, medial, and recti as well as inferior oblique muscle paresis suggestive of a right cranial nerve (CN) III involvement. There was also a right CN VII palsy evidenced by lagopthalmus and facial asymmetry. General neurological examination revealed a left foot drop with the power reduced to 4/5. The reflexes were brisk. All other neurological examinations were normal.Our working diagnosis at that point was an intracranial bleed causing the third and seventh cranial nerve palsies, as well as the motor deficit (foot drop) secondary to the fall. Intracranial space occupying lesion was also on the list of differential diagnosis. CT brain performed on the patient showed an illdefined, minimally enhancing suprasellar mass with specks of calcification within. The mass extended to the posterior fossa, causing mass effect onto the brainstem and obstructive hydrocephalus (Figure 1).The contrasted MRI brain showed an extra-axial lesion at the base of the skull with an epicenter at the sella region. It measured 7.2 × 4.1 × 3.7 cm. The lesion extended postero-inferiorly towards the right pons and midbrain compressing these structures as well as the fourth ventricle. However, no mass was identified within the fourth ventricle itself. It also extended superiorly into the suprasellar region invading the cavernous sinus. It was predominantly solid with several intratumoural cysts seen, largest of which was within the suprasellar component. The lesion was hypointense on T1W and slightly hyperintense on T2W and FLAIR and demonstrated mild restrict...

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Section: Discussionmentioning

confidence: 99%

“…It accounts for 25% -30% of the MBs and has a bimodal age distribution. On imaging, the tumor is typically located in the body of the cerebellum, lateralizing to the sides of the organ (4,12,13). Raleigh et al also described the tumor as typically isointense on T2-FLAIR sequence (14).…”

Section: Discussionmentioning

confidence: 99%

Medulloblastoma with Suprasellar Extension and Atypical Presentation

et al. 2017

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“…Some studies [19] classified medulloblastoma into three molecular subgroups (SHH, WNT, Non-SHH/WNT), instead of four subgroups (SHH, WNT, Group 3, and Group 4). There are two main reasons for the adoption of three subgroups: one is that Group 3 and Group 4 medulloblastoma were much less well defined and both showed neuronal/photoreceptor differentiation, and their clinical features were largely similar according to previous studies [10][11][12][18][19][20][21][22] . Another reason is the lack of reliable, rapid techniques to differentiate Group 3 and Group 4 [18] .…”

Section: Discussionmentioning

confidence: 99%

“…Another reason is the lack of reliable, rapid techniques to differentiate Group 3 and Group 4 [18] . Transcriptome profiling analysis remains as the gold standard in molecular subgrouping [21] . Although IHC is a method that can be applied for molecular classification, it is limited by the absence of reliable IHC markers to differentiate Group 3 and Group 4.…”

Section: Discussionmentioning

confidence: 99%

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Differences in the prognostic value of tumor extent of resection among the molecular subgroups of medulloblastoma:A single centre study of 113 cases

Wang

Xiong

et al. 2017

Transl. Neurosci. Clin.

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Immunohistochemistry and CTNNB1 exon 3 mutation analysis were used to determine the different subgroups. Complete or incomplete resection was defined based on surgeons' reports and confirmed by postoperative computer tomography (CT). In this study, we included 113 patients with medulloblastoma (13 with WNT subgroup, 18 with SHH subgroup, and 82 with non-SHH/WNT subgroups) to assess their event-free and overall survival. We identified event-free survival and overall survival benefit for complete resection over incomplete resection. We found that for patients with NON-SHH/WNT medulloblastoma, incomplete resection was significantly associated with progression and overall survival compared with complete resection. To our best knowledge, the present study is the first to demonstrate the prognostic value of tumor extent of resection among the molecular subgroups of 113 medulloblastoma in the Chinese population.The prognostic benefit of the increased extent of resection for patients with medulloblastoma is attenuated after the molecular subgroups are taken into account. We still need further study to assess the benefit of surgical resection of small residual portions.Citation Wang YY, Li KKW, Xiong J, Zhang ZY, Wang Y, Xu J, Wang Y, Ng HK, Zhong P. Differences in the prognostic value of tumor extent of resection among the molecular subgroups of medulloblastoma: A single centre study of 113 cases.

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