Nijmegen breakage syndrome in two half sibs with peripheral T-cell lymphoma and cortical T-cell acute lymphoid leukemia

Abstract

nijmegen breakage syndrome (nBS) is a rare autosomal recessive disorder, characterized by spontaneous chromosomal instability with predisposition to immunodeficiency and cancer. We present a repeated nBS in two sons from one woman after two marriages. We describe the clinical data, cytogenetic, and molecular findings of a prenatally diagnosed fetus, and his brothers with nBS. the first patient developed peripheral t-cell lymphoma at the age of 16 years and died 5 months after the protocol start. the diagnosis of nBS was established after his death. the second patient was born after the fifth pregnancy, third delivery in the second marriage; he developed cortical t-cell leukemia at the age of 3 years, received hematopoietic stem cells transplantation (hSct) and he is alive now. In a year after repeated nBS case in this family, mother became pregnant again and the mutation was detected in the male fetus after the prenatal diagnosis; the pregnancy was aborted. At the age of 41 years, mother's seventh pregnancy finished by miscarriage. In three months, she was pregnant again, only one mutation in nBn gene was detected during the prenatal diagnostics in the female fetus; healthy female was born at term. to our knowledge, this is the first time to describe the repeated cases of two patients born with nijmegen breakage syndrome from one mother and two different fathers. this case highlights the value of checking nBn carrier in Belarusian families during genetic counselling.