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CASE REPORT article

Front. Oncol.
Sec. Hematologic Malignancies
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1441318

Liver Fibrosis among infants with t(1;22)(p13;q13) Acute Megakaryoblastic Leukemia: A Case Report and Literature Review

Provisionally accepted
NIRA ARAD-COHEN NIRA ARAD-COHEN 1*Ori Attias Ori Attias 1Yaniv Zohar Yaniv Zohar 1Yoav Messinger Yoav Messinger 2
  • 1 Rambam Health Care Campus, Haifa, Israel
  • 2 Children's Minnesota Hospitals and Clinics, Minneapolis, Minnesota, United States

The final, formatted version of the article will be published soon.

    This case report describes a 2-month-old girl with acute megakaryoblastic leukemia (AMKL) harboring the t(1;22)(p13;q13) translocation, resulting in the RBM15::MRTFA fusion gene. She presented with massive hepatosplenomegaly and liver fibrosis and achieved complete remission with chemotherapy; the liver fibrosis resolved within 2.5 months. After 12 years of follow-up, the patient remained in good health, without relapse. Reviewing the literature on eight additional similar cases of liver fibrosis, this subtype of AMKL predominantly affects females below 3 months of age, with a median onset at 6 weeks. High rates of severe complications were observed, with five of nine patients dying within 10 weeks of diagnosis. The authors hypothesized that the proliferation of abnormal megakaryoblasts within the liver leads to the release of profibrotic cytokines, such as TGF-β1, which induces liver fibrosis similar to that observed in transient abnormal myelopoiesis in Down syndrome. Careful monitoring of liver function and reduced-intensity chemotherapy are recommended for this very young patient population. Nonetheless, long-term survival can be achieved with aggressive supportive care and treatment.

    Keywords: Acute megakaryoblastic leukemia, non-Down, liver fibrosis, pediatric, t(1, 22)(p13, q13) translocation, Acute megacaryoblastic leukemia, liver fibrosis

    Received: 30 May 2024; Accepted: 24 Jul 2024.

    Copyright: © 2024 ARAD-COHEN, Attias, Zohar and Messinger. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: NIRA ARAD-COHEN, Rambam Health Care Campus, Haifa, Israel

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