Lineage-dependent skewing of loss of heterozygosity (LOH) of KRAS gene in a case of juvenile myelomonocytic leukemia
Autor: | Hisamichi Tauchi, Mariko Eguchi, Hidehiko Iwabuki, Eiichi Ishii, Sanae Kawakami, Minenori Eguchi-Ishimae, Kiriko Tokuda |
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Rok vydání: | 2014 |
Předmět: |
Male
Lineage (genetic) CD34 Loss of Heterozygosity Bone Marrow Cells Biology CD38 medicine.disease_cause Polymorphism Single Nucleotide Immunophenotyping Loss of heterozygosity Proto-Oncogene Proteins p21(ras) Bone Marrow Proto-Oncogene Proteins medicine Humans Cell Lineage neoplasms Alleles Juvenile myelomonocytic leukemia Infant Hematology General Medicine medicine.disease digestive system diseases Haematopoiesis Leukemia Myelomonocytic Juvenile Mutation Cancer research Leukocytes Mononuclear ras Proteins KRAS Stem cell |
Zdroj: | European journal of haematology. 94(2) |
ISSN: | 1600-0609 |
Popis: | Juvenile myelomonocytic leukemia (JMML) is a clonal disease arising from abnormal hematopoietic stem cells, although the involvement of lymphoid lineage differs among reported cases. Here, we present a case of JMML with a KRAS G13D mutation. The mutation was detected in various hematopoietic lineages, including T and B lymphocytes and also in lineage(-) CD34(+) CD38(-) hematopoietic stem cells, showing a different percentage of affected cells in each lineage. Single cell-based analysis of hematopoietic cells revealed the loss of wild-type KRAS in a significant proportion of G13D-harboring cells. The percentage of loss of heterozygosity (LOH)/non-LOH cells showed lineage-dependent skewing in hematopoietic cells. The loss of the wild-type KRAS allele may be a common secondary genetic change in KRAS-related JMML and may affect the differentiation behavior of early JMML progenitors. |
Databáze: | OpenAIRE |
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