TY - JOUR
T1 - A Curious Case of Atypical Acute Promyelocytic Leukaemia in a 4-Year Boy
AU - Brohi, Sana
AU - Siddiqui, Imran Ahmed
AU - Sarfraz, Saliha
AU - Ahmad, Asad Hayat
N1 - Publisher Copyright:
© 2025 College of Physicians and Surgeons Pakistan. All rights reserved.
PY - 2025/1
Y1 - 2025/1
N2 - A 4-year boy presented with a history of fever, bruises, frequent transfusions, and left eye proptosis for 1 month. His baseline bone marrow biopsy and immunophenotyping by flow cytometry were consistent with acute promyelocytic leukaemia (APL), but bone marrow cytogenetics were consistent with variant translocation, a non-classical translocation involving chromosome 15 but with different fusion partners than t(15; 17). He initially did not respond to the high-risk APL induction protocol. Later, he was given a high-risk AML induction protocol, to which he responded, but due to financial constraints, the family could not opt for a curative haplo-identical bone marrow transplant, and eventually, the child died. This is the first case of APL with such a variant translocation documented in Pakistan. It is important to document such cases to gather their data, discuss the effectiveness of attempted treatments, and analyse subsequent responses.
AB - A 4-year boy presented with a history of fever, bruises, frequent transfusions, and left eye proptosis for 1 month. His baseline bone marrow biopsy and immunophenotyping by flow cytometry were consistent with acute promyelocytic leukaemia (APL), but bone marrow cytogenetics were consistent with variant translocation, a non-classical translocation involving chromosome 15 but with different fusion partners than t(15; 17). He initially did not respond to the high-risk APL induction protocol. Later, he was given a high-risk AML induction protocol, to which he responded, but due to financial constraints, the family could not opt for a curative haplo-identical bone marrow transplant, and eventually, the child died. This is the first case of APL with such a variant translocation documented in Pakistan. It is important to document such cases to gather their data, discuss the effectiveness of attempted treatments, and analyse subsequent responses.
KW - Acute promyelocytic leukaemia M3
KW - All-trans retinoic acid
KW - Auer rods
KW - Myeloid leukaemia
KW - Promyelocytic leukaemia
KW - retinoic acid receptor alpha
KW - t(15; 17)
UR - https://www.scopus.com/pages/publications/105018000622
U2 - 10.29271/jcpspcr.2025.236
DO - 10.29271/jcpspcr.2025.236
M3 - Article
AN - SCOPUS:105018000622
SN - 1022-386X
VL - 35
SP - 236
EP - 238
JO - Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
JF - Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
IS - 1
ER -