title: B lineage acute lymphoblastic leukemia transformation in a child with juvenile myelomonocytic leukemia, type 1 neurofibromatosis and monosomy of chromosome 7. Possible implications in the leukemogenesis.
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.
authors.affiliation: Department of Puericulture and Pediatrics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Scrideli
authors.forename: Marcelo Razera
authors.initials: MR
authors.lastname: Baruffi
authors.forename: Silvia Regina
authors.initials: SR
authors.lastname: Rogatto
authors.forename: Elvis Terci
authors.initials: ET
authors.lastname: Valera
authors.forename: Ricardo
authors.initials: R
authors.lastname: Defavery
authors.forename: Luiz Gonzaga
authors.initials: LG
authors.lastname: Tone
mesh_terms: D019070:Cell Lineage; D002471:Cell Transformation, Neoplastic; D002897:Chromosomes, Human, Pair 7; D002999:Clone Cells / Q000473:pathology; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007223:Infant; D015448:Leukemia, B-Cell / Q000209:etiology / Q000235:genetics / Q000473:pathology; D015477:Leukemia, Myelomonocytic, Chronic / Q000150:complications / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D008297:Male; D009006:Monosomy; D016609:Neoplasms, Second Primary / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics / Q000473:pathology; D039904:Pluripotent Stem Cells / Q000473:pathology; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000209:etiology / Q000235:genetics / Q000473:pathology*