A rare case of a patient with Rubinstein-Taybi syndrome and acute lymphoblastic leukaemia
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Abstract
Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterized by intellectual disabilityand numerous congenitaldefects of the face and limbs. Its associated mutations can coexist with various cancers. This study presents the case of a 7-year-old girl with RSTS, who was referred to the Emergency Department due to the occurrence of haemorrhagic diathesis in the form of punctate petechiae on the trunk and bloody spots on the upper and lower limbs. The blood count revealed profound anaemia, thrombocytopenia and the presence of atypical cells in the white blood cell smear. The myelogram showed 73% of undifferentiated cells. Based on the results of cytomorphology, immunophenotype and cytogenetic examination, the girl was diagnosed with acute lymphoblastic leukaemia pre B common (+) and treatment was started by the AIEOP-BFM 2017 protocol. The case of this patient is one of the few reports of acute lymphoblastic leukaemia in a patient with RSTS. Analysis of the response to treatment and side effects observed during the therapy of a girl with RSTS may help to individualize and optimize the therapy.
Keywords: acute lymphoblastic leukaemiachildRubinstein-Taybi syndromecancer predisposition
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