Case Report


A case of myelodysplastic syndrome with extramedullary hematopoiesis followed by rapid transformation into NRAS-mutated acute myeloid leukemia in an orthotopic liver transplant recipient

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1 MD, Assistant Professor, Department of Medicine, Division of General Internal Medicine, Rutgers New Jersey Medical School, Newark, NJ, USA

2 MD, Resident Physician, Department of Medicine, Rutgers New Jersey Medical School, Newark, NJ, USA

3 MD, PhD, Assistant Professor, Department of Pathology and Laboratory Medicine, Division of Hematopathology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA

4 DO, Fellow, Department of Medicine, Division of Gastroenterology and Hepatology, Rutgers New Jersey Medical School, Newark, NJ, USA

5 MD, Assistant Professor, Department of Medicine, Division of Hematology and Oncology, Rutgers New Jersey Medical School & Rutgers Cancer Institute, Newark, NJ, USA

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Ravi Upadhyay

90 Bergen Street, Suite 4200, Newark, NJ 07103,

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Article ID: 100139Z10RU2024

doi: 10.5348/100139Z10RU2024CR

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How to cite this article

Upadhyay R, Shah M, Serei V, Panchal D, Shah A. A case of myelodysplastic syndrome with extramedullary hematopoiesis followed by rapid transformation into NRAS-mutated acute myeloid leukemia in an orthotopic liver transplant recipient. J Case Rep Images Oncology 2024;10(2):31–36.

ABSTRACT


Introduction: With the increase in lifespan and the resulting immunosuppression that decreases tumor surveillance, secondary malignancies in liver transplant recipients are becoming more common.

Case Report: We present a unique case of a 33-year-old man who developed myelodysplastic syndrome with transformation into acute myeloid leukemia following orthotopic liver transplantation. Approximately 18 months after the patient’s liver transplantation, he developed leukopenia and neutropenia which shortly progressed into leukocytosis with peripheral blasts. His bone marrow aspirate showed 10% myeloblasts with the patient thereafter being diagnosed with myelodysplastic syndrome with excess blasts-2. Two months later, the patient had repeat flow cytometry of his blood which revealed 18% myeloblasts in the CD45 dim blast gate along with co-expression of CD34 and CD117, consistent with a diagnosis of refractory anemia with excess of blasts in transformation/acute myeloid leukemia. Next generation sequencing exhibited one variant of strong clinical significance in the neuroblastoma RAS viral oncogene homolog. The patient was not a candidate for allogenic stem cell transplantation and he expired approximately five months after diagnosis of acute myeloid leukemia despite two cycles of decitabine and venetoclax.

Conclusion: This case demonstrates how complications of orthotopic liver transplantation including secondary malignancies are becoming more common and that the benefits and risks associated with chronic immunosuppressive therapy must be balanced against each other. The case also exhibits the heterogeneous nature of this phenomenon and that further work is needed to determine the optimal treatment for this post-liver transplant disease which unfortunately heralds a poor prognosis.

Keywords: Acute myeloid leukemia, Extramedullary hematopoiesis, Myelodysplastic syndrome, NRAS, Orthotopic liver transplantation

SUPPORTING INFORMATION


Author Contributions

Ravi Upadhyay - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Manali Shah - Substantial contributions to conception and design, Revising it critically for important intellectual content, Final approval of the version to be published

Virian Serei - Acquisition of data, Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published

Dayna Panchal - Substantial contributions to conception and design, Revising it critically for important intellectual content, Final approval of the version to be published

Ankit Shah - Substantial contributions to conception and design, Revising it critically for important intellectual content, Final approval of the version to be published

Guaranter of Submission

The corresponding author is the guarantor of submission.

Source of Support

None

Consent Statement

Written informed consent was not obtained from the patient as the patient is deceased and no patient identifiers were used in the publication of this article.

Data Availability

All relevant data are within the paper and its Supporting Information files.

Conflict of Interest

Authors declare no conflict of interest.

Copyright

© 2024 Ravi Upadhyay et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.