title: Acute lymphoblastic leukemia following severe congenital neutropenia or de novo ALL?
abstract: Acute lymphoblastic leukemia (ALL) presenting with neutropenia alone is very rare. We describe a newborn with an early life-threatening infection, severe neutropenia and bone marrow findings compatible with severe congenital neutropenia (SCN). She was treated with granulocyte colony-stimulating factor (G-CSF) with complete neutrophil recovery. Three months later she developed a pro-B ALL. We identified a rare loss of 5'-MLL present at the diagnosis of SCN and ALL by FISH analysis using two different MLL (11q23) probes. Molecular analyses for SCN causing mutations (ELA-2, HAX-1 and G6PC3) and for somatic mutations of the CSF3R gene were negative. The early presence of 5'-MLL loss in bone marrow samples may favor the diagnosis of de novo ALL. Nevertheless, the genetic background for SCN is heterogeneous and a non-described mutation for SCN followed by a secondary ALL cannot be excluded. Further genetic investigation may be useful to gain insight into this rare condition in children.
authors.affiliation: Division of Pediatric Oncology, Department of Pediatrics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil. etvalera@hcrp.fmrp.usp.br
authors.forename: Elvis Terci
authors.initials: ET
authors.lastname: Valera
authors.forename: María Sol
authors.initials: MS
authors.lastname: Brassesco
authors.forename: Manuela
authors.initials: M
authors.lastname: Germeshausen
authors.forename: Vanessa da Silva
authors.initials: Vda S
authors.lastname: Silveira
authors.forename: Rosane Gomes de Paula
authors.initials: RG
authors.lastname: Queiroz
authors.forename: Pérsio
authors.initials: P
authors.lastname: Roxo
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Scrideli
authors.forename: Ullissis Pádua
authors.initials: UP
authors.lastname: de Menezes
authors.forename: Virgínia
authors.initials: V
authors.lastname: Ferriani
authors.forename: Luiz Gonzaga
authors.initials: LG
authors.lastname: Tone
mesh_terms: D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D009503:Neutropenia / Q000150:complications / Q000151:congenital* / Q000188:drug therapy; D016133:Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000175:diagnosis