We are happy to announce that The Journal of Basic and Clinical Health Sciences (JBACHS) is indexed by the Emerging Sources Citation Index since November 2017, and indexed by the Ulakbim-TR since 2017.
Journal of Basic and Clinical Health Sciences 2019 , Vol 3 , Issue 2
Polysomy 8 Syndrome: A Distinct Clinical Entity Comprising of Myelomonocytic/Monocytic Lineage Involvement in Acute Leukemia
Zeynep Yüce1,Erdinç Yüksel2,Melek Pehlivan3,Ömür Gökmen Sevindik4,İnci Alacacıoğlu4,Oğuz Altungöz1
1Dokuz Eylul University Faculty of Medicine, Department of Medical Biology, Izmir, Turkey
2Dokuz Eylul University Hospital, Central Diagnostic Laboratory, Izmir, Turkey
3Izmir Katip Celebi University, Vocational School of Health Services, Izmir, Turkey
4Dokuz Eylul University, Faculty of Medicine, Department of Hematology, Izmir, Turkey
DOI : 10.30621/jbachs.2019.505 Purpose: Cytogenetic abnormalities have been proven to be among the most valuable prognostic indicators in leukemia, allowing the stratification of patients in risk groups. We describe a patient diagnosed as AML-M5, with myeloid sarcoma and tetrasomy 8 as the sole chromosomal abnormality. We confirm that the presence of polysomy 8 in myeloid lineage malignancies is associated with a distinct clinical entity comprising of myelomonocytic/monocytic lineage involvement, poor prognosis and high incidence of myeloid sarcoma. In aim to obtain a detailed description of this clinical entity, literature of polysomy 8 cases has been reviewed.

Methods: Cytogenetic analysis was performed on bone marrow samples directly after aspiration and following 24 h short term culture. Fluorescence in situ hybridization (FISH) analyses were performed at complete remission stage on interphase nuclei from bone marrow.

Results: Cytogenetic analyses revealed tetrasomy 8 as the sole karyotipic change in all metaphases. The presence of tetrasomy was confirmed with C-MYC (8q24), AML1/ETO (ETO-8q21) and chromosome 8 centromeric probe cocktail.

Conclusion: Recognition of the polysomy 8 syndrome will allow for the development of a standardized approach to these patients; as well as stimulating further research into the biology of the disorder that will allow for the development of better therapeutic strategies. Keywords : Tetrasomy 8, Acute Myeloid Leukemia, AML-M5, Myeloid Sarcoma, Polysomy 8 Syndrome, Cytogenetics