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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REFERENCES
1. Wentzel C, Fernstrom M, Ohrner Y, Anneren G, Thuresson
AC. Clinical variability of the 22q11.2 duplication
syndrome. Eur J Med Genet. 2008; 51(6):
501-510.
2. Chang VY, Quintero-Rivera F, Baldwin EE, Woo
K, Martinez-Agosto JA, Fu C, et al. B-acute lymphoblastic
leukemia and cystinuria in a patient with
duplication 22q11. 21 detected by chromosomal microarray
analysis. Pediatr Blood Cancer. 2011; 56(3):
470-473.
3. ISCN 2016. An International System for Human
Cytogenomic Nomenclature. McGowan-Jordan J,
Simons A, Schmid M, Eds. Basel (Switzerland): S.
Karger Publishing, 2016. 4. Colella S, Yau C, Taylor JM, Mirza G, Butler H,
Clouston P, et al. QuantiSNP: An objective Bayes
hidden Markov model to detect and accurately map
copy number variation using SNP genotyping data.
Nucleic Acids Res. 2007; 35(6): 2013-2025.
5. Portnoi MF. Microduplication 22q11.2: A new chromosomal
syndrome. Eur J Med Genet. 2009; 52(2-3):
88-93.
6. Rosa RF, Zen PR, Ricachinevsky CP, Pilla CB,
Pereira VL, Roman T, et al. 22q11.2 duplication and
congenital heart defects. Arq Bras Cardiol. 2009;
93(4): e55-e57.
7. Schmock H, Vangkilde A, Larsen KM, Fischer E,
Birknow MR, Jepsen JR, et al. The Danish 22q11
research initiative. BMC Psychiatry. 2015; 15: 220.
8. Bruneau BG. The developmental genetics of congenital
heart disease. Nature. 2008; 451(7181): 943-948.
9. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT,
Picker J, et al. Microduplications of 22q11.2 are frequently
inherited and are associated with variable
phenotypes. Genet Med. 2008; 10(4): 267-277.
10. Launay E, Henry C, Meyer C, Chappe C, Taque S,
Boulland ML, et al. MLL-SEPT5 fusion transcript
in infant acute myeloid leukemia with t(11;22)
(q23;q11). Leuk Lymphoma. 2014; 55(3): 662-667.
11. Bartsch I, Sandrock K, Lanza F, Nurden P, Hainmann I,
Pavlova A, et al. Deletion of human GP1BB and SEPT5
is associated with Bernard-Soulier syndrome, platelet
secretion defect, polymicrogyria, and developmental
delay. Thromb Haemost. 2011; 106(3): 475-483.
12. Schnerch D, Yalcintepe J, Schmidts A, Becker H,
Follo M, Engelhardt M, et al. Cell cycle control in
acute myeloid leukemia. Am J Cancer Res. 2012;
2(5): 508-528.
13. Gascoyne RD, Lamant L, Martin-Subero JI, Lestou
VS, Harris NL, Muller-Hermelink HK, et al. ALKpositive
diffuse large B-cell lymphoma is associated
with Clathrin-ALK rearrangements: Report of 6
cases. Blood. 2003; 102(7): 2568-2573.
14. Chen S, Zhu B, Yu L. In silico comparison of gene
expression levels in ten human tumor types reveals
candidate genes associated with carcinogenesis. Cytogenet
Genome Res. 2006; 112(1-2): 53-59.
15. Egbelakin A, Ferguson MJ, MacGill EA, Lehmann
AS, Topletz AR, Quinney SK, et al. Increased risk
of vin-cristine neurotoxicity associated with low
CYP3A5 expression genotype in children with acute
lymphoblastic leukemia. Pediatr Blood Cancer. 2011;
56(3): 361-367.
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