Acute lymphoblastic leukemia following severe congenital neutropenia or de novo ALL?
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.
Valera
Elvis Terci
ET
Division of Pediatric Oncology, Department of Pediatrics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil. etvalera@hcrp.fmrp.usp.br
Brassesco
María Sol
MS
Germeshausen
Manuela
M
Silveira
Vanessa da Silva
Vda S
Queiroz
Rosane Gomes de Paula
RG
Roxo
Pérsio
P
Scrideli
Carlos Alberto
CA
de Menezes
Ullissis Pádua
UP
Ferriani
Virgínia
V
Tone
Luiz Gonzaga
LG
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