Abstract
This report describes the case of an 8-month-old infant with a diagnosis of juvenile myelomonocytic leukemia (JMML) and type 1 neurofibromatosis that presented progression to B lineage acute lymphoid leukemia (ALL). The same rearrangement of gene T-cell receptor gamma (TCR gamma) was detected upon diagnosis of JMML and ALL, suggesting that both neoplasias may have evolved from the same clone. Our results support the theory that JMML may derive from pluripotential cells and that the occurrence of monosomy of chromosome 7 within a clone of cells having an aberrant neurofibromatosis type 1 (NF1) gene may be the cause of JMML and acute leukemia.
MeSH terms
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Cell Lineage
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Cell Transformation, Neoplastic
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Chromosomes, Human, Pair 7
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Clone Cells / pathology
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Genes, Neurofibromatosis 1
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Humans
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Infant
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Leukemia, B-Cell / etiology
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Leukemia, B-Cell / genetics
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Leukemia, B-Cell / pathology
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Leukemia, Myelomonocytic, Chronic / complications
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Leukemia, Myelomonocytic, Chronic / etiology
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Leukemia, Myelomonocytic, Chronic / genetics
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Leukemia, Myelomonocytic, Chronic / pathology*
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Male
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Monosomy
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Neoplasms, Second Primary / etiology
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Neoplasms, Second Primary / genetics
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Neoplasms, Second Primary / pathology*
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Neurofibromatosis 1 / complications*
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Neurofibromatosis 1 / genetics
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Neurofibromatosis 1 / pathology
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Pluripotent Stem Cells / pathology
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Precursor Cell Lymphoblastic Leukemia-Lymphoma / etiology
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Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
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Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology*