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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DISCUSSION
Nijmegen breakage syndrome has been reported
in different populations, but so far, most of the
patients have been of Slavic origin and carry a typical
mutation (657 del5) on the NBS1 gene [1,2]. To
the best of our knowledge, this is the first family
with NBS reported from Macedonia. B-cell lymphomas
are the most frequently encountered malignancies
in NBS, but cases of precursor T-cell, B-cell
leukemia or myeloid leukemia, have also been reported
[13,14]. Data from the Nijmegen registry indicate
that patients with NBS develop cancer before
the age of 21 years [1]. The majority of lymphomas
in NBS were diagnosed in patients younger than 15
years of age with lymphomas as the leading cause
of death [1,2]. Due to the small number of patients
with NBS and NHL, experience related to their
treatment is limited [13,14]. The treatment outcome
is poor, and drug dose reductions are warranted to
reduce serious toxic effects in these patients.
Our patients developed T-NHL and T-ALL at
the age of 7 and 9.5 years, respectively. The first patient
received more than 80.0% of the recommended
doses of chemotherapy. During treatment, no major
toxic or infectious complications were observed.
He achieved a complete remission that lasted for
21 months. The remission was not achieved in his
brother and he died after a very brief and severe
episode of a gram-negative sepsis and SIRS. Immunodeficiency
in NBS is significant, affecting both
the humoral and cellular immunity but it is highly
variable, with a tendency to progress over time [14].
In our patients, we found a normal humoral immune
system (cellular immunity was not tested). The diagnosis
of NBS was established based on the clinical
characteristics and molecular analyses of the NBS1
gene. The constitutional karyotypes of the NBS patients
were normal. Cultured T cells often show a
poor proliferative capacity, making the cytogenetic
analysis far from easy. Early diagnosis of NBS is
very important in order to avoid severe recurrent
infections by employing appropriate prophylaxis in
order to avoid unnecessary exposure to radiation for
diagnostic purposes and the adverse reactions of the
radiotherapy for the treatment of malignant tumors.
It is important in cases presenting with malignancy
and suggestive clinical features, that the diagnosis is
confirmed prior to the initiation of treatment. Diagnosis
on a genetic level provides prevention of the
disease in families who are at an increased risk for
having a sick child with NBS. Establishing an early
genetic diagnosis will provide prenatal diagnosis in
each successive pregnancy and prevent the recurrence
of the disease in the family.
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