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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Abstract
Nijmegen breakage syndrome (NBS) is a rare
autosomal recessive chromosomal instability disorder
characterized by microcephaly, immunodeficiency,
radiosensitivity and a very high predisposition to
malignancy. The gene responsible for the disease,
NBS1, is located on chromosome 8q21 and encodes a
protein called nibrin. After identification of the gene,
a truncating 5 bp deletion, 657-661delACAAA, was
identified as the disease-causing mutation in patients
with the NBS. In this report, we describe two patients
with NBS and T-lymphoblastic leukemia/ lymphoma
in a Macedonian family. To the best of our knowledge,
this is the first family with NBS reported from
Macedonia. Both children presented with microcephaly,
syndactyly and the development of T cell lymphoblastic
lekemia/lymphoma at the age of 7 and 10
years, respectively. The molecular analysis of NBS1
genes in our patients showed homozygosity for the
657del5 mutation in the NBS1 gene. The parents were
heterozygotes for the 657del5 mutation and they had
no knowledge of a consanguineous relationship. The
first child was treated with the International Berlin-
Frankfurt-Münster (BFM)-Non Hodgkin lymphoma
(NHL) protocol and achieved a complete remission
that lasted for 21 months. Subsequently, he developed
a medullar relapse with hyperleukocytosis and died
due to lethal central nervous system (CNS) complications.
The second child was treated according to the
International Collaborative Treatment Protocol for
Children and Adolescents with Acute Lymphoblastic
Leukemia 2009 (AIOP-BFM ALL 2009) protocol.
Unfortunately, remission was not achieved.
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