# Case report: Development of clonal hematologic disorders from inherited bone marrow failure

## TL;DR

This case report highlights how inherited bone marrow failure can lead to clonal blood disorders later in life if undiagnosed in childhood.

## Contribution

The novelty lies in emphasizing the importance of diagnosing IBMF in adults with unexplained blood disorders to guide appropriate treatment.

## Key findings

- Two patients with IBMF were correctly diagnosed in adulthood due to progressive MDS.
- Early hematopoietic stem cell transplantation is recommended for IBMF patients under 40 with unexplained cytopenia.

## Abstract

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.