G-3705

2025-10-19 19:26

Written by ARCIMS 26 ARCIMS 26 in Sunday 2025-10-19 19:26

AML-M0 with Trisomy 13 Resulting from a Robertsonian Translocation der(13;13): A Novel Case with Possible Clonal Evolution from CLL

 Narjes Ramezanzadeh 1 ℗, Gholamreza Khamisipour 2 ©   

 Student Research Committee, Bushehr University of Medical Sciences, Bushehr, Iran.

 Department of Hematology, School of Para-Medicine, Bushehr University of Medical Sciences., Bushehr, Iran.

 Email: narjes.ramezanzadeh78@gmail.com
 

 


 
Abstract

Introduction: Trisomy 13 is a rare cytogenetic abnormality in acute myeloid leukemia (AML), and its pathogenic role remains unclear. Even more rare is the occurrence of trisomy 13 arising from a Robertsonian translocation involving homologous chromosome 13 [der(13;13)(q10;q10)], which to our knowledge, has not been previously reported in the context of AML. Case Presentation: In present study We reported a 67-year-old male with a background of chronic lymphocytic leukemia (CLL) who presented with leukocytosis, anemia, and thrombocytopenia. Peripheral blood smear revealed severe anisopoikilocytosis and a predominance of lymphocytes. Bone marrow aspiration demonstrated hypercellular marrow with 87% myeloblasts and suppressed erythropoiesis. Immunophenotyping showed positivity for CD34, CD117, MPO, and HLA-DR, consistent with AML-M0. Conventional cytogenetic analysis identified a composite karyotype: 46,XY,+13,der(13;13)(q10;q10)[7]/46,XY[23], confirming constitutional trisomy 13 due to Robertsonian translocation. Results: This unique case highlights a novel constitutional cytogenetic mechanism contributing to leukemogenesis in AML-M0 and raises the possibility of clonal evolution from antecedent CLL. Recognition and reporting of such cytogenetic variants are essential for expanding the spectrum of AML-associated abnormalities and understanding their clinical significance.


Keywords: Acute Myeloid Leukemia (AML-M0), Trisomy 13, Robertsonian Translocation, Clonal Evolution

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