Large cell anaplastic medulloblastoma metastatic to the scalp: tumor and derived stem-like cells features

大细胞间变性髓母细胞瘤转移到头皮:肿瘤和衍生的干细胞样细胞特征

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作者:Angela Mastronuzzi, Evelina Miele, Agnese Po, Manila Antonelli, Francesca Romana Buttarelli, Giovanna Stefania Colafati, Francesca del Bufalo, Roberta Faedda, Gian Paolo Spinelli, Andrea Carai, Felice Giangaspero, Alberto Gulino, Franco Locatelli, Elisabetta Ferretti

Background

Extraneural metastases (ENM) rarely occur in medulloblastoma (MBL) patients and only few cases of subcutaneous localizations have been described. ENM indicate an aggressive disease associated with a worse prognosis. The characterization of metastatic tumours might be useful to understand their pathogenesis and to identify the most appropriate therapeutic strategies. Case presentation: We present the case of a child with Large Cell Anaplastic (LC/A) MBL, who developed multiple subcutaneous metastases in the scalp area after a ventriculo-peritoneal shunting procedure. The disease rapidly progressed and the child died despite chemotherapy and primary tumour surgical debulking.We molecularly classified the tumour as a group 3 MBL; in addition, we derived stem-like cells (SLC) from a metastatic lesion. Primary tumour, metastases and SLC were further analysed, particularly focusing on features linked to the cutaneous dissemination. Indeed, molecules involved in angiogenesis, cell invasion and epidermal growth factor signalling resulted highly expressed. Conclusions: The present report describes a very rare case of subcutaneous metastatic MBL. The tumour, metastases and SLC have been clinically, pathologically and molecularly characterized. Our case is an example of multidisciplinary approach aiming to characterize MBL aggressive behaviour.

Conclusions

The present report describes a very rare case of subcutaneous metastatic MBL. The tumour, metastases and SLC have been clinically, pathologically and molecularly characterized. Our case is an example of multidisciplinary approach aiming to characterize MBL aggressive behaviour.

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