Myelodysplastic syndrome (MDS) associated with EBV infection in a pediatric patient

Abstract

Background: Epstein Barr Virus (EBV) is associated with different kinds of tumors. In the present study we tried to understand its role in pediatric MDS of a 4-year-old girl with EBV infection and MDS with refractory anemia and monosomy 7. Procedures: The work-up included: hematological tests; serology for IgM, IgG antibodies to EBV; PCR for EBV; cytogenetics of bone marrow (BM), and FISH analysis of BM and blood; immunohistochemistry-LMP1 expression on BM smears. Results: Hematological follow up showed constant mild dysplastic changes mostly in the erythroid lineage. PCR for EBV showed positive results in the nasopharygeal smears as well as in blood 15 weeks after disease onset. Cytogenetic analysis showed monosomy 7 in all the mitoses of BM sample. Fluorescence in situ hybridization (FISH) showed monosomy 7% in 57% of the cells, followed by a decreased tendency in the percentage of monosomy 7 cells in both BM and blood. Immunohistochemistry for EBV-latent membrane protein 1 (LMP-1) on the patient's BM smears, 21 weeks post disease onset, showed 9% positive cells, 80% of them carried monosomy 7. Conclusion: The parallel occurrence of the EBV infection and MDS, as well as the continuous EBV PCR positive and monosomy 7, support the possibility that they are related.

Myelodysplastic Disorders, Monosomy 7

“…MDS is uncommon in children as it accounts for less than 5% of all hematopoietic neoplasms [33,71]. Viral infections including Epstein-Barr virus (EBV) may contribute to the pathogenesis of MDS by stimulating a preexisting clone and may induce certain genetic mutations [33].…”

“…MDS is uncommon in children as it accounts for less than 5% of all hematopoietic neoplasms [33,71]. Viral infections including Epstein-Barr virus (EBV) may contribute to the pathogenesis of MDS by stimulating a preexisting clone and may induce certain genetic mutations [33]. Chromosome 7 abnormalities, monosomy 7 and del (7q), are common cytogenetic abnormalities in MDS and they are found in 31% of children with myeloid neoplasms [22,71].…”

“…They are characterized by ineffective erythropoiesis, BM dysplasia, and increased risk of leukemic transformation [22]. Monosomy 7 is the most common chromosomal abnormality in children with MDS [33,71]. In children, monosomy 7 implies poor prognosis because it is associated with high risk of transformation into acute leukemia including ALL [33,71].…”