IKZF1 deletion and co-occurrence with other aberrations in a child with chronic myeloid leukemia progressing to acute lymphoblastic leukemia
| Autor: | Claudete Esteves Klumb, Gabriela Nestal de Moraes, Mariana Emerenciano, Raquel Ciuvalschi Maia, Thayana Conceição Barbosa, Márcia Trindade Schramm |
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| Rok vydání: | 2018 |
| Předmět: |
Lymphoblastic Leukemia
Blast Phase Pathogenesis 03 medical and health sciences Ikaros Transcription Factor 0302 clinical medicine CDKN2A hemic and lymphatic diseases Leukemia Myelogenous Chronic BCR-ABL Positive Medicine Humans neoplasms business.industry Myeloid leukemia Infant Hematology Neoplasm Proteins ETV6 Oncology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Immunology PAX5 Female business Blast Crisis Gene Deletion 030215 immunology Rare disease |
| Zdroj: | Pediatric bloodcancer. 66(4) |
| ISSN: | 1545-5017 |
| Popis: | Chronic myeloid leukemia (CML) is a rare disease in children. Different from that in adults, childhood CML involves transformative events occurring over a short time period. CML transformation to lymphoid blast phase (BP) is associated with copy number abnormalities, characteristic of BCR-ABL1 positive acute lymphoblastic leukemia, but not of CML in the chronic phase. Here, we present an unusual case of CML progressing to BP in a 1.6-year-old child, harboring IKZF1, PAX5, CDKN2A, and ETV6 deletions at diagnosis. It remains to be addressed whether distinct mechanisms might account for CML pathogenesis in early childhood. |
| Databáze: | OpenAIRE |
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