Large Cell/Anaplastic Medulloblastoma (AMBL)

Overview

Note: OncoTree code AMBL maps to “Large Cell/Anaplastic Medulloblastoma” under the Embryonal Tumor branch. In the corpus (PMID:27442865), the label “ameloblastic carcinoma” was the original diagnostic classification of a jaw tumor later reclassified by MSK-IMPACT as Ewing sarcoma (ES) via EWSR1-FLI1 fusion detection. This page reflects the cBioPortal AMBL code as used in the study’s cancer type labeling; see ES for the reclassified diagnosis.

Cohorts in the corpus

• hnc_mskcc_2016 — 1 odontogenic case initially classified as ameloblastic carcinoma, included among 2 odontogenic carcinomas in 151 recurrent/metastatic head and neck tumors profiled by MSK-IMPACT 410-gene panel PMID:27442865.

Recurrent alterations

• EWSR1-FLI1 fusion — identified by MSK-IMPACT in the tumor originally diagnosed as ameloblastic carcinoma; reclassified the case as Ewing sarcoma with epithelial differentiation (ES) PMID:27442865.

Subtypes

• The identification of EWSR1-FLI1 fusion in this odontogenic-site tumor illustrates that EWSR1 fusions can drive tumors at unusual anatomic locations; diagnosis reclassification has direct therapeutic implications PMID:27442865.

Therapeutic landscape

• Ewing sarcoma-directed therapy — the reclassification from ameloblastic carcinoma to ES via EWSR1-FLI1 enabled use of Ewing sarcoma-directed cytotoxic regimens PMID:27442865.

Sources

• PMID:27442865 — Morris et al. 2017 (JAMA Oncol). Odontogenic EWSR1-FLI1-positive tumor reclassified from ameloblastic carcinoma to Ewing sarcoma by MSK-IMPACT.

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