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Open Access Highly Accessed Case report

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

Angela Mastronuzzi1, Evelina Miele23, Agnese Po2, Manila Antonelli4, Francesca Romana Buttarelli4, Giovanna Stefania Colafati5, Francesca del Bufalo1, Roberta Faedda2, Gian Paolo Spinelli6, Andrea Carai7, Felice Giangaspero48, Alberto Gulino23, Franco Locatelli1 and Elisabetta Ferretti2*

Author Affiliations

1 Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy

2 Department of Molecular Medicine, Sapienza University, Viale Regina Elena 291, 00161 Rome, Italy

3 Center for Life NanoScience@Sapienza, Istituto Italiano di Tecnologia, Viale Regina Elena 291, 00161 Rome, Italy

4 Department of Radiological, Oncological and Pathological Science, Sapienza University, Viale Regina Elena 291, 00161 Rome, Italy

5 Department of Radiology, Unit of Neuroradiology, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’ Onofrio 4, 00165 Rome, Italy

6 Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University, UOC Oncology Aprilia, Via Giustiniano, 04011, Aprilia, LT, Italy

7 Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’ Onofrio 4, 00165 Rome, Italy

8 Neuromed Institute, IRCCS, Via Atinense 18, 86077 Pozzilli, IS, Italy

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BMC Cancer 2014, 14:262  doi:10.1186/1471-2407-14-262

Published: 16 April 2014

Abstract

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.

Keywords:
Medulloblastoma; Stem-like cells; Molecular features; Subcutaneous metastasis