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ORIGINAL RESEARCH article

Front. Oncol.
Sec. Hematologic Malignancies
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1420666
This article is part of the Research Topic MDS: New Scientific and Clinical Developments View all 9 articles

DEVELOPMENT OF CLONAL HEMATOLOGIC DISORDERS FROM INHERITED BONE MARROW FAILURE

Provisionally accepted
Jaroslav Cermak Jaroslav Cermak *
  • Institute of Haematology and Blood Transfusion (Czechia), Prague, Czechia

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

    Inherited bone marrow failure (IBMF) syndromes are caused by mutations forming pathologic germline variants resulting in the production of defective hematopoietic stem cells (HSC) and in congenital failure in the production of one or more blood lineages. An acquisition of subsequent somatic mutations is determining further course of the disease. Nevertheless, a certain number of patients with IBMF may escape correct diagnosis in childhood, especially those with mild cytopenia and minimal clinical features without non-hematologic symptoms.These patients usually present in the third decade of life with unexplained cytopenia or myelodysplastic syndrome (MDS). We report 2 patients with IBMF who were correctly diagnosed between 20 and 40 years of age when they were referred with progressive MDS with adverse prognostic factors that affected their outcome. IBMF syndromes should be excluded in all patients below 40 years of age with unexplained cytopenia. Early hematopoietic stem cell transplantation (HSCT) is the treatment of choice in these patients.

    Keywords: Inherited bone marrow failure, Cytopenia, diagnosis, Treatment, Myelodysplastic Syndromes, Transplantation

    Received: 20 Apr 2024; Accepted: 08 Jul 2024.

    Copyright: © 2024 Cermak. 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: Jaroslav Cermak, Institute of Haematology and Blood Transfusion (Czechia), Prague, Czechia

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