Diffuse Leptomeningeal Glioneuronal Tumor in a 4.5-year-old Girl: A Case Report and Review of the Literature
JOURNAL OF PEDIATRIC NEUROLOGY
Authors: Gabrys, Anna; Kuzaj, Julia; Pawelczak, Dominika; Seliga, Katarzyna; Jelinska, Agnieszka; Tysarowski, Andrzej; Grajkowska, Wieslawa; Kwiatkowski, Stanislaw
Abstract
Diffuse leptomeningeal glioneuronal tumor (DLGNT) is an entity introduced in 2016 World Health Organization classification of tumors of the central nervous system. The tumor occurs very rarely. Due to the lack of specific clinical and radiological features, biopsy is necessary to be performed and histological and immunohistochemical testing is essential to reach the diagnosis. A 4.5-year-old girl presented with a history of headache, vomiting, and right eye convergent squint. Imaging revealed multiple enhancing lesions located supra- and infratentorially and intramedullary. Histopathological examination demonstrated diffused growth of neoplastic cells. Molecular testing revealed KIAA1549-BRAF fusion and the diagnosis of DLGNT was stated.
An update on the implications of cyclin D1 in melanomas
PIGMENT CELL & MELANOMA RESEARCH
Authors: Gonzalez-Ruiz, Lucia; Gonzalez-Moles, Miguel Angel; Gonzalez-Ruiz, Isabel; Ruiz-Avila, Isabel; Ayen, Angela; Ramos-Garcia, Pablo
Abstract
Cyclin D1 is a protein encoded by the CCND1 gene, located on 11q13 chromosome, which is a key component of the physiological regulation of the cell cycle. CCND1/cyclin D1 is upregulated in several types of human tumors including melanoma and is currently classified as an oncogene that promotes uncontrolled cell proliferation. Despite the demonstrated importance of CCND1/cyclin D1 as a central oncogene in several types of human tumors, its knowledge in melanoma is still limited. This review examines data published on upregulation of the CCND1 gene and cyclin D1 protein in the melanoma setting, focusing on the pathways and molecular mechanisms involved in the activation of the gene and on the clinical and therapeutic implications.