T-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA
IN MACEDONIAN PATIENTS WITH
NIJMEGEN BREAKAGE SYNDROME
Kocheva SA, Martinova K, Antevska-Trajkova Z, Coneska-Jovanova B, Eftimov A,
Dimovski AJ
*Corresponding Author: Svetlana A. Kocheva, M.D., Ph.D., Department of Hematology and Oncology,
University Children’s Hospital, Mother Teresa 17, 1000 Skopje, Macedonia. Tel:+38-971-378-184. E-mail:
svetlana.kocheva@t.mk
page: 91
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INTRODUCTION
Nijmegen breakage syndrome (NBS) is a relatively
rare chromosomal instability disorder with
an estimated incidence of less than 1:100,000 live
births [1,2]. The disease seems to be more prevalent
among Central and Eastern European populations,
with Polish patients constituting approximately
half of all registered NBS patients worldwide. Nijmegen
breakage syndrome is clinically characterized
by microcephaly, typical facial appearance,
growth and mental retardation, immunodeficiency
and a high predisposition to lymphoid malignancies,
in particular to lymphoma and leukemia [1,2].
Important additional features are skin abnormalities,
particularly café au lait spots and vitiligo, as
well as clinodactyly and syndactyly. The laboratory
analyses demonstrate immunodeficiency characterized
by the involvement of both humoral and cellular
immunity. The NBS patients’ cells display
chromosome instability and hypersensitivity to the lethal effects of agents, such as ionizing radiation,
that induce double-strand breaks in genomic DNA.
The disease is caused by mutations in the NBS1
gene that is located on chromosome 8q21 [3-5]. The
NBS1 gene encodes nibrin, a member of the Mre11/
Rad50/nibrin complex involved in the cellular response
to DNA double-strand breaks [6-8]. After
identification of the gene, a truncating 5 bp deletion,
657-661delACAAA, was identified as the diseasecausing
mutation in patients with the NBS [9-11].
Patients with the same genotype may vary in their
phenotypic expression. In this report, we describe
the clinical features and molecular characterization
of two patients with NBS in a Macedonian family.
To the best of our knowledge, this is the first family
with NBS reported from Macedonia.
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