Medulloblastoma – Genetic Alterations

Manor, Esther; Bodner, Lipa

doi:10.5772/20148

Cited by 1 publication

(1 citation statement)

References 58 publications

(92 reference statements)

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“…The only MYCN amplification was found in a case with a 9q deletion encompassing the PTCH1 locus, which strongly suggests this tumor belongs to the SHH subgroup. The association of MYCN and MYCL in this tumor is a striking and unique observation, although isolated MYCL amplifications have been sporadically observed in SHH tumors [ 26 ] and MYCN is one of the most frequently amplified genes in SHH tumors [ 9 ]. Multiple amplicons in a SHH setting usually associate GLI2 with MYCN and may indicate Li-Fraumeni syndrome, which is linked to a dismal prognosis.…”

Section: Discussionmentioning

confidence: 99%

Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature

Siegfried¹,

Bertozzi²,

Bourdeaut³

et al. 2016

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The aim of this study was to better define the clinical and biopathological features of patients with desmoplastic/nodular medulloblastoma (DNMB) and to further characterize this subgroup. 17 children aged < 5 years, with initial DNMB treated according to the HIT-SKK protocol, were evaluated. A retrospective central radiological review, a pathological and immunohistochemical study, and array-CGH and sequencing of germline SUFU and PTCH1 genes were performed. 15 histologically reviewed cases were confirmed as DNMB including three cases of medulloblastoma with extensive nodularity. Median age at diagnosis was 26 months. Radiology showed five cases with a vermis location and one with T2 hyperintensity. All cases showed a SHH immuno-profile. A 9q deletion was found in 6 cases, a MYCN–MYCL amplification in 1 case, and a SUFU germline mutation in 1 case (/9). The presence of SUFU and PTCH1 germline mutations agreed with previous reports. At 3 years, progression-free survival and overall-survival rates were 72 ± 15% and 85 ± 10%, respectively. The rate of recurrence was relatively high (4 patients). This may have been because chemotherapy was delayed in two cases. Age > 3 years, and residual tumor may also have been an explanation for recurrence.

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Section: Discussionmentioning

confidence: 99%