Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication
Mantas Vaisvilas, Vaidas Dirse, Beata Aleksiuniene, Indre Tamuliene, Loreta Cimbalistiene, Algirdas Utkus, Jelena Rascon
*Corresponding Author: Jelena Rascon, MD, PhD Center for Pediatric Oncology and Hematology Children’s Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos Santariskiu St. 4 LT 08406 Vilnius Lithuania Phone: +3705 2328703 Email: jelena.rascon@santa.lt
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Abstract

Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication 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. Both benign and malignant hematologic entities are rare. A male patient was diagnosed with mild facial dysmorphia, congenital heart anomalies shortly after birth and acute bowel obstruction due to malrotation of the intestine at the age of three. A whole-genome single nucleotide polymorphism array revealed a de novo 6.6 Mb duplication in the 22q11.1q11.22 chromosomal region. A year later, the patient was diagnosed with acute pre-B lymphoblastic leukemia. Five genes— CDC45, CLTCL1, DGCR2, GP1BB and SEPT5—in the 22q11.1q11.22 region are potentially responsible for cell cycle division. We hypothesized that dosage imbalance of genes implicated in the rearrangement could have disrupted the balance between cell growth and differentiation and played a role in the initiation of malignancy with a hyperdiploid leukemic clone, whereas overexpression of the TBX1 gene might have been responsible for congenital heart defects and mild facial dysmorphia.



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