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Alexander Luchinin

Kirov Research Institute of Hematology and Blood Transfusion, Russia

Title: Hematology and Oncology

Biography

Biography: Alexander Luchinin

Abstract

This is the case of an 62-year-old man who had symptoms such as splenomegaly +10 cm below the costal arch, very high WBC (169*10/9/L), immature granulocytes in CBC ( 7%), low PLT count (85*10/9/L), low HGB level (11.2 g/dL) and monocytosis (22% or 37*10/9/L). He was admitted to hematology & oncology department in our center. He also presented with hypercellularity with high count of monocytes in bone marrow (18%) and the blasts count was 7%. We did cytogenetic test of bone marrow by standard method. The karyotype was 48, XYY, +13 [20]. In additional we did cytogenetic analysis of lymphocytes stimulated by phytohaemagglutinin. The final cytogenetic conclusion showed that the patient had XYY syndrome or superman syndrome. This is rare congenital genetic disorder which often becomes unrecognized. The patient received final hematological diagnosis of Chronic Myelomonocytic Leukemia-1 by WHO classification. Therapy was invited with Hydroxyurea during 6 months without remission and with progression to AML. The second line was chemotherapy of 6-mercaptopurinum and low doses of cytarabine. In spite of treatment, the patient ultimately died from progression AML.

It is known, that patients with some different congenital genetic disorders, such as Dawn`s syndrome, Fanconi anemia, severe congenital neutropenia, Shwachman-Diamond syndrome and others, have high risk of leukemia. However, there are very little clinical cases described in science press. It was one of these rare cases. So, can “superman” be ill CMML? Yes, if he has acquired trisomy 13.