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Characterization of myelodysplastic syndromes progressing to acute lymphoblastic leukemia

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Abstract

Myelodysplastic syndromes (MDS) are a heterogeneous group of diseases, with a variable probability of transformation into acute leukemia, which is, in the vast majority of cases, of myeloid lineage. Nevertheless, rare cases of acute lymphoblastic leukemia in patients with previously diagnosed MDS have been reported. We describe a series of 3 cases of MDS/CMML marked with evolution to acute lymphoblastic leukemia (ALL) and provide a comprehensive review of the 49 cases documented in the literature so far. These sporadic events have only been published as single-case reports or small series to date. Such atypical cases emphasize the possibility of major phenotypic switches arising at the leukemic stem cell (LSC) and/or early progenitor levels, as a consequence of epigenetic and genomic events driving these changes in the bone marrow niche.

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Abbreviations

AL:

Acute leukemia

ALL:

Acute lymphoblastic leukemia

AML:

Acute myeloid leukemia

CMML:

Chronic myelomonocytic leukemia

CNS:

Central nervous system

DIC:

Disseminated intravascular coagulopathy

EORTC:

European Organization for Research and Treatment of Cancer

FAB:

French American British

GRAALL:

Group for Research on Adult Acute Lymphoblastic Leukemia

GVHD:

Graft-versus-host disease

HCR:

Hematological complete remission

HLA:

Human leukocyte antigen

HSPC:

Hematopoietic stem cells and early progenitors

HSCT:

Hematopoietic stem cell transplantation

IDH:

Isocitrate dehydrogenase

IPSS:

International Prognostic Scoring System

IT:

Intrathecal

LSC:

Leukemic stem cell

MDS:

Myelodysplastic syndrome

RA:

Refractory anemia

RAEB:

Refractory anemia with excess of blasts

RARS:

Refractory anemia with ring sideroblasts

RCC:

Refractory cytopenia of childhood

MLL:

Mixed lineage leukemia

NGS:

Next-generation sequencing

MPN:

Myeloproliferative neoplasm

RAEB-T:

Refractory anemia with excess of blasts in transformation

RBC:

Red blood cell

t-ALL:

Therapy-related acute lymphoblastic leukemia

TF:

Transcription factor

WHO:

World Health Organization

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Acknowledgments

F.M. gratefully acknowledges the support of the Personalized Health and Related Technologies (PHRT) strategic focus area of the Swiss Federal Institutes of Technology (ETH) Domain and the Swiss Personalized Health Network (SPHN) initiative of the Swiss Academy of Medical Sciences (project no #2017-407). The authors gratefully acknowledge the assistance of Dr. Valérie Parlier for providing pictures of karyotype and FISH. All the authors contributed to literature research, wrote and edited the manuscript.

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Authors and Affiliations

  1. Centre Hospitalier Universitaire Vaudois (CHUV), Hematology Service and Central laboratory, Oncology department, Rue du Bugnon 46, Lausanne, CH-1011, Switzerland

    Filipe Martins

  2. Service and Central Laboratory of Hematology, Department of Oncology and Department of Laboratory Medicine and Pathology, Lausanne University Hospital (CHUV), Rue du Bugnon 46, Lausanne, CH-1011, Switzerland

    Filipe Martins, Olivier Spertini & Sabine Blum

  3. School of Life Sciences, Laboratory of Virology and Genetics, Swiss Federal Institute of Technology Lausanne (EPFL), Station 19, CH-1015, Lausanne, Switzerland

    Filipe Martins

  4. Internal Medicine 1, Hematology, Oncology and Stem Cell Transplantation, Faculty of Medicine, University Hospital Freiburg, Hugstetter Straße 55, 79106, Freiburg, Germany

    Michael Kruszewski & Michael Lübbert

  5. Oncogenomic Laboratory, Hematology Service, Department of Laboratory Medicine and Pathology, Lausanne University Hospital (CHUV), Rue du Bugnon 46, Lausanne, CH-1011, Switzerland

    Ilaria Scarpelli, Jacqueline Schoumans & Olivier Spertini

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The retrospective reporting of this case series is in accordance with the ethical standards of our institution and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This article does not contain any studies with human participants performed by any of the authors. Informed consent was obtained from all the living patients included in the study.

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Martins, F., Kruszewski, M., Scarpelli, I. et al. Characterization of myelodysplastic syndromes progressing to acute lymphoblastic leukemia. Ann Hematol 100, 63–78 (2021). https://doi.org/10.1007/s00277-020-04114-2

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