International Journal of Hematology and Oncology 2024, Vol 34, Num 1 Page(s): 221-226
Loss of Y Chromosome in Bone Marrow Cells with Hematologic Malignancies: A Retrospective Study

Tugba Karaman MERCAN1, Sibel Berker KARAUZUM1, Utku ILTAR2, Orhan Kemal YUCEL2, Kemal Hakan GULKESEN3, Sezin Yakut UZUNER1

1Akdeniz University, Faculty of Medicine, Department of Medical Biology
2Akdeniz University, Faculty of Medicine, Department of Hematology
3Akdeniz University, Faculty of Medicine, Department of Biostatistics and Medical Informatics

Keywords: Blood cells, Cytogenetics, Hematological malignancies, Sex chromosome
Hematological diseases are characterized by changes such as chromosomal abnormalities, the activation of proto-oncogenes and inactivation of tumor suppressor genes in hematopoietic cells. The loss of chromosome Y (LOY) is frequent in the hematopoietic cells of older men. It has been accepted that LOY is related to the normal aging process for many years. However, some studies have shown that LOY in blood cells may be related to disease processes. We aimed to show whether LOY in patients with hematological malignancy is due to aging or a somatic chromosomal mutation seen in hematological malignancy. We conducted cytogenetic analysis on bone marrow samples obtained from 247 male patients between 2001 and 2021. Genetic test results for pre-diagnosed patients in the hematology department were conducted at the Genetic Diseases Assessment Center at Akdeniz University Faculty of Medicine. Patients are grouped into acute lymphoblastic leukemia (ALL) (n= 8), acute myeloid leukemia (AML) (n= 19), chronic lymphocytic leukemia (CLL) (n= 15), lymphoma (n= 49), myelodysplastic syndrome (MDS) (n= 54), multiple myeloma (MM) (n= 65) and myeloproliferative neoplasms (MPN) (n= 12). The 100% LOY was observed in 31,81% (n= 7) AML, 27.27% (n= 6) MM, 18,18% (n= 4) MDS, 9.09% (n= 3) ALL, 9,09% (n= 2) MPN, and 4.54% (n=1) lymphoma. The percentage of LOY in AML patients was significantly higher than that in lymphoma, CLL, MM, MDS patients, and control groups (p< 0.01). However, we found no statistically significant relationship between the percentage of LOY and advanced age in patients. Our data revealed that LOY was not associated with age, but rather with the disease, and it might be a chromosomal marker for AML. Further studies are needed to support our suggestion.