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Retinoblastoma and beyond: pediatric orbital mass lesions.

Neuroradiology

December 2024

Department of Neuroradiology, Istituto Giannina Gaslini, Genoa, Italy.

Various space occupying lesions can arise in the orbit, ranging from developmental anomalies to malignancies, and many of the diseases occurring in children are different from the pathologies in the adult population. As the clinical presentation is frequently nonspecific, radiologic evaluation is essential for lesion detection and characterization as well as patient management. While orbital masses may in some cases involve multiple compartments, a simple compartmental approach is the key for the diagnosis on imaging studies, and MRI is the modality of choice.

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Bladder cancer is one of the main causes of urogenital cancer (30-35% of the total urological cancers). Although metastases from urologic tumors are rare, it is associated with a high mortality rate. The location and pattern of metastasis are random and unpredictable.

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Synovial sarcoma is an aggressive soft-tissue cancer that shows limited responses to current immunotherapeutic approaches using immune checkpoint blockade or adoptive cell therapy. To improve immunotherapy for this cancer, understanding how the immune cells in the tumor microenvironment associate with histological subtype, disease progression and current therapies is vital. To evaluate the immune infiltrate in synovial sarcoma in relation to histological subtype, disease progression and in response to cytotoxic treatment, we performed immunodetection of T cells, CD68 myeloid cells, endothelial cells and keratin on a series of 41 synovial sarcoma patients at various stages of disease.

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The diagnosis of myeloid neoplasms with plasmacytoid dendritic cell (pDC) differentiation can be challenging due to immunophenotypic overlap requiring detailed characterization by flow cytometry and immunohistochemistry. We describe two patients with a history of myeloproliferative neoplasm (MPN) and myelodysplastic/myeloproliferative neoplasm (MDS/MPN) who presented years later with leukocytosis, lymphadenopathy, splenomegaly, and cachexia, with rapid clinical deterioration and death. Lymph node biopsy specimens revealed involvement by myeloid sarcoma with prominent pDC differentiation.

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Sarcomas are rare, mesenchymal tumors, representing about 10-15% of all childhood cancers. GD2 is a suitable target for chimeric antigen receptor (CAR) T-cell therapy due to its overexpression in several solid tumors. In this preclinical study, we investigated the potential use of iCasp9.

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