Partial deletions in chromosomes 1p and 19q are found in a subset of astrocytic tumors; however, it remains unclear how these alterations affect their histological features and prognosis. Herein, we present 3 cases of isocitrate dehydrogenase (IDH)-mutant astrocytoma with chromosome 19q13 deletion. In the first case, the primary tumor harbored an IDH1 mutation with chromosome 1p/19q partial deletions, which covered 19q13 and exhibited a durable initial response to radiotherapy and temozolomide (TMZ) treatment.
View Article and Find Full Text PDFWe report a case of primary central nervous system lymphoma(PCNSL)originating from an optic chiasma, which was difficult to diagnose but was finally diagnosed by biopsy. A 62-year-old immunocompetent man presented with bilateral visual field disturbance, hypopituitarism, and diabetes insipidus;an optic chiasm lesion was detected on MRI. After starting steroid supplementation for adrenal insufficiency, visual field disturbance immediately improved.
View Article and Find Full Text PDFSubstantial evidence suggests that chromosomal abnormalities contribute to the risk of autism. The duplication of human chromosome 15q11-q13 is known to be the most frequent cytogenetic abnormality observed in autism. We replicate this genetic abnormality in mice by using chromosome engineering to generate a 6.
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