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
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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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