Version 1
: Received: 4 August 2024 / Approved: 5 August 2024 / Online: 5 August 2024 (13:37:18 CEST)
How to cite:
Peshin, S.; Khattak, A.; Cook, N. High-Risk Myelodysplastic Syndrome and Acute Myeloid Leukemia: Challenges of Complex Karyotype and TP53 Mutation. Preprints2024, 2024080340. https://doi.org/10.20944/preprints202408.0340.v1
Peshin, S.; Khattak, A.; Cook, N. High-Risk Myelodysplastic Syndrome and Acute Myeloid Leukemia: Challenges of Complex Karyotype and TP53 Mutation. Preprints 2024, 2024080340. https://doi.org/10.20944/preprints202408.0340.v1
Peshin, S.; Khattak, A.; Cook, N. High-Risk Myelodysplastic Syndrome and Acute Myeloid Leukemia: Challenges of Complex Karyotype and TP53 Mutation. Preprints2024, 2024080340. https://doi.org/10.20944/preprints202408.0340.v1
APA Style
Peshin, S., Khattak, A., & Cook, N. (2024). High-Risk Myelodysplastic Syndrome and Acute Myeloid Leukemia: Challenges of Complex Karyotype and TP53 Mutation. Preprints. https://doi.org/10.20944/preprints202408.0340.v1
Chicago/Turabian Style
Peshin, S., Asfand Khattak and Nicholas Cook. 2024 "High-Risk Myelodysplastic Syndrome and Acute Myeloid Leukemia: Challenges of Complex Karyotype and TP53 Mutation" Preprints. https://doi.org/10.20944/preprints202408.0340.v1
Abstract
This case report elucidates the clinical trajectory of a 60-year-old male with a history of mild cytopenias, subsequently diagnosed with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) characterized by a complex karyotype and a TP53 mutation. The initial diagnostic evaluation included a bone marrow biopsy revealing 34% myeloid blasts with aberrant immunophenotyping and complex cytogenetic abnormalities, including losses and gains of chromosomal regions. Genetic analysis confirmed a high Variant Allele Frequency of 80% for the TP53 mutation. The patient’s management strategy commenced with a combination of Inqovi (decitabine and cedazuridine) and Venetoclax, supported by prophylactic measures to mitigate tumor lysis syndrome and vigilant infection control. While offering a glimmer of hope for improving outcomes in this high-risk cohort, this treatment approach underscores the inherent challenges posed by the aggressive nature of the disease and the TP53 mutation’s contribution to therapeutic resistance. The case highlights the critical need for personalized treatment regimens and rigorous follow-up to optimize patient care and advance our understanding of this complex malignancy.
Keywords
TP53; MDS; AML; Venetoclax; cedazuridine
Subject
Medicine and Pharmacology, Hematology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
