Duration of the pre‐diagnostic interval in medulloblastoma is subgroup dependent

Ramaswamy, Vijay; Remke, Marc; Shih, David; Wang, Xin; Northcott, Paul A.; Faria, Cláudia C.; Raybaud, C; Tabori, Uri; Hawkins, Cynthia; Rutka, James T.; Taylor, Michael D.; Bouffet, Éric

doi:10.1002/pbc.25002

Cited by 48 publications

(31 citation statements)

References 33 publications

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“…Despite the small primary tumor in some cases, patients with Group 3 medulloblastoma frequently present with symptoms of hydrocephalus and, in general, a short prediagnostic interval, suggesting that their symptoms are related to metastatic disease causing distal CSF obstruction at the arachnoid granulations, rather than obstruction of CSF in the fourth ventricle. 24 The significance of laminar metastases being enriched in Group 3 tumors compared with nodular metastases in Group 4 is unclear; however, the distinction is consistent with the observation that at relapse, there is a clear trend toward isolated nodular relapses being more common in Group 4 tumors. 23 In addition, it is possible that the smaller primary tumors observed in Group 3 disease represent an early metastatic event leading to a more diffuse presentation.…”

Section: Discussionsupporting

confidence: 66%

“…Specifically, WNT tumors arise mainly from lateral recesses (or cerebellopontine angle) in contrast to SHH tumors, the majority of which occupy cerebellar hemispheres. 17,19,24,27,34 Group 3 and 4 tumors occupy the fourth ventricle, where Group 4 tumors frequently do not display contrast enhancement. 19,27 This suggests that MRI is a promising tool for noninvasive determination of molecular subgroup and is probably a reflection of distinct cells of origin for each of the subgroups.…”

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confidence: 99%

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Differential patterns of metastatic dissemination across medulloblastoma subgroups

Zápotocký

Mata‐Mbemba²,

Sumerauer

et al. 2018

Journal of Neurosurgery: Pediatrics

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OBJECTIVEMetastatic dissemination is a major treatment challenge and cause of death in patients with medulloblastoma. However, the influence of molecular biology on the pattern of metastatic dissemination at diagnosis is not known. In this study, the authors sought to define the location, pattern, and imaging characteristics of medulloblastoma metastases across subgroups at diagnosis.METHODSA consecutive cohort of patients with metastatic medulloblastoma at The Hospital for Sick Children and the University Hospital Motol, who underwent up-front MRI of the craniospinal axis, was assembled and allocated to subgroups using NanoString limited gene–expression profiling. Radiological characteristics (including location, morphology, size, diffusion restriction, and contrast enhancement) were discerned through a retrospective review.RESULTSForty metastatic medulloblastomas were identified with up-front neuroimaging of the craniospinal axis: 5 sonic hedgehog (SHH), 16 Group 3, and 19 Group 4 metastases. Significant subgroup-specific differences were observed, particularly with respect to tumor location, size, and morphology. Group 3 metastases were most frequently laminar compared with a more nodular pattern in Group 4 (14 of 16 in Group 3 vs 8 of 19 in Group 4; p = 0.0004). Laminar metastases were not observed in patients with SHH medulloblastoma. Suprasellar metastases are highly specific to Group 4 (p = 0.016). Two of the 5 SHH cases had multifocal lesions in the cerebellum, raising the possibility that these were in fact synchronous primary tumors and not true metastases. A minority of patients with Group 4 metastases harbored metastatic deposits that did not enhance on MRI after contrast administration, often in patients whose primary tumor did not enhance.CONCLUSIONSThe location, morphology, and imaging characteristics of metastatic medulloblastoma differ across molecular subgroups, with implications for diagnosis and management. This suggests that the biology of leptomeningeal dissemination differs among medulloblastoma subgroups.

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Section: Discussionsupporting

confidence: 66%

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confidence: 99%

Differential patterns of metastatic dissemination across medulloblastoma subgroups

Zápotocký

Mata‐Mbemba²,

Sumerauer

et al. 2018

Journal of Neurosurgery: Pediatrics

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“…The majority of cases were diagnosed within 2 months after first symptom, despite the non-specificity of most signs and symptoms, consistent with earlier findings [17,23,[31][32][33]. Longer latencies were found in 12% of cases, in line with a previous study [21].…”

Section: Discussionsupporting

confidence: 91%

Clinical presentation of young people (10–24 years old) with brain tumors: results from the international MOBI-Kids study

et al. 2020

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Introduction We used data from MOBI-Kids, a 14-country international collaborative case-control study of brain tumors (BTs), to study clinical characteristics of the tumors in older children (10 years or older), adolescents and young adults (up to the age of 24). Methods Information from clinical records was obtained for 899 BT cases, including signs and symptoms, symptom onset, diagnosis date, tumor type and location. Results Overall, 64% of all tumors were low-grade, 76% were neuroepithelial tumors and 62% gliomas. There were more males than females among neuroepithelial and embryonal tumor cases, but more females with meningeal tumors. The most frequent locations were cerebellum (22%) and frontal (16%) lobe. The most frequent symptom was headaches (60%), overall, as well as for gliomas, embryonal and 'non-neuroepithelial' tumors; it was convulsions/seizures for neuroepithelial tumors other than glioma, and visual signs and symptoms for meningiomas. A cluster analysis showed that headaches and nausea/ vomiting was the only combination of symptoms that exceeded a cutoff of 50%, with a joint occurrence of 67%. Overall, the median time from first symptom to diagnosis was 1.42 months (IQR 0.53-4.80); it exceeded 1 year in 12% of cases, though no particular symptom was associated with exceptionally long or short delays. Conclusions This is the largest clinical epidemiology study of BT in young people conducted so far. Many signs and symptoms were identified, dominated by headaches and nausea/vomiting. Diagnosis was generally rapid but in 12% diagnostic delay exceeded 1 year with none of the symptoms been associated with a distinctly long time until diagnosis.

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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%

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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Duration of the pre‐diagnostic interval in medulloblastoma is subgroup dependent

Abstract: The duration of the pre-diagnostic interval in childhood medulloblastoma is highly subgroup dependent, further highlighting the clinical heterogeneity and biological relevance of the four principle subgroups of medulloblastoma.

Cited by 48 publications

References 33 publications

Differential patterns of metastatic dissemination across medulloblastoma subgroups

Differential patterns of metastatic dissemination across medulloblastoma subgroups

Clinical presentation of young people (10–24 years old) with brain tumors: results from the international MOBI-Kids study

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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