Diagnosis and Treatment of Pediatric Acute Megakaryoblastic Leukemia with NUP98::KDM5A Rearrangement: Case Report
10.15264/cpho.2024.31.2.56
- Author:
Hyemin KANG
1
;
Suejung JO
;
Jae Won YOO
;
Seongkoo KIM
;
Jae Wook LEE
;
Nack-Gyun CHUNG
;
Bin CHO
;
Chae Yeon LEE
;
Myungshin KIM
Author Information
1. Departments of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea
- Publication Type:CASE REPORT
- From:Clinical Pediatric Hematology-Oncology
2024;31(2):56-59
- CountryRepublic of Korea
- Language:English
-
Abstract:
Non-Down syndrome pediatric acute megakaryoblastic leukemia (AMKL) may be classified according to the presence of recurrent genetic abnormalities with prognostic relevance. In this case study, we report on a girl with AMKL, 32 months old at the time of diagnosis, in whom we confirmed the presence of the cryptic, poor prognosis NUP98::KDM5A fusion. The patient achieved complete remission (CR) with the first course of chemotherapy, underwent haploidentical family donor hematopoietic stem cell transplantation (HSCT) without event, but relapsed 5 months after HSCT. Through this case report, we emphasize the good initial response to chemotherapy, and the early relapse despite undergoing HSCT in first CR. We review the limited literature on NUP98::KDM5A (+) pediatric AML, and underscore the need for further study to improve the outcome of patients with this rare AML subtype.
