关键词: WNT medulloblastoma melanotic medullomyoblastoma myogenic pigmented

Mesh : Brain / diagnostic imaging pathology Cell Differentiation Cerebellar Neoplasms / diagnostic imaging metabolism pathology Child Child, Preschool Desmin / metabolism Female Humans Male Medulloblastoma / diagnostic imaging metabolism pathology Melanins / metabolism Myogenin / metabolism Neoplasms, Muscle Tissue Wnt Signaling Pathway

来  源:   DOI:10.1111/neup.12281   PDF(Sci-hub)

Abstract:
Medulloblastoma (MB) with melanotic and myogenic differentiation, previously known as melanotic medullomyoblastoma, is an extremely rare histological variant of MB showing melanocytic as well as skeletal muscle differentiation. Only 10 cases of this rare tumor have been reported in the literature to date. We report this case of a 2-year-old male child who presented with a midline cerebellar mass, which on histopathological examination showed classic MB intermixed with cells containing melanin pigment, along with rhabdomyoblasts, spindle cells and occasional strap cells, which corresponded to WNT subgroup on molecular classification. The cell of origin of this MB variant is likely to be neural crest-derived stem cells which are capable of multilineage differentiation. Significant findings from previous reports and important differential diagnoses are discussed. Documentation of these tumors is important to characterize the clinical behaviour and to identify distinct genetic features, if any.
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