ACUTE PRE-B LYMPHOBLASTIC LEUKEMIA AND CONGENITAL ANOMALIES IN A CHILD WITH A DE NOVO 22q11.1q11.22 DUPLICATION
Vaisvilas M, Dirse V, Aleksiuniene B, Tamuliene I, Cimbalistiene L, Utkus A, Rascon J
*Corresponding Author: Jelena Rascon, M.D., Ph.D., Center for Pediatric Oncology and Hematology, Children’s Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Santariskiu St. 4, LT 08406 Vilnius, Lithuania. Tel: +3705-232- 8703. Fax: +3705-272-0368. E-mail: jelena.rascon@santa.lt
page: 87

INTRODUCTION

Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. Genomic rearrangements in this region are caused by a non allelic homologous recombination between specific low-copy repeats spanning the region. The 22q11.2 deletion is common and manifests as DiGeorge/velocardiofacial syndrome (DG/ VCFS), whereas duplication in the same region is rarely reported. The 22q11.2 microduplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities to very mild symptoms [1]. Although many organs can be affected, hematological disturbances are rare. Single nucleotide polymorphism (SNP) array analysis provides a highly sensitive platform to detect large and small genomic aberrations, which could uncover rare syndomes as well as primary genomic lesions of the acute leukemia. We report a clinical and molecular characterization of a proband with a de novo mosaic 22q11.1q11.22 duplication and acute pre-B lymphoblastic leukemia (pre-B ALL). To the best of our knowledge, only one association between duplication in the 22q11.21 region and pediatric pre-B ALL has been reported so far [2].



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