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.
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.
Scrideli
Carlos Alberto
CA
Department of Puericulture and Pediatrics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.
Baruffi
Marcelo Razera
MR
Rogatto
Silvia Regina
SR
Valera
Elvis Terci
ET
Defavery
Ricardo
R
Tone
Luiz Gonzaga
LG
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*