Volumen: 19 # Number : Suplemento
Publication Date : Octubre Year: 2015
Bone Marrow Failure Syndromes (Differential Diagnosis)
Authors: Leonardo Feldman
Abstract: The bone marrow failure syndromes (BMFs) are
characterized by inadequate blood cell production
leading to low blood cell counts in the peripheral
blood. Bone Marrow (BM) failure can be acquired
or constitutional and may affect only a single lineage
or all three blood cell lines resulting in pancytopenia.
In most, the BM shows a simple deficiency of the
related precursor cells but marrow failure can also
occur with relatively cellular marrows, presumably
as a result of ineffective hematopoiesis and can be
associated with cytogenetic abnormalities. For normal
hematopoiesis coordinated regulation of genetic
and epigenetic mechanisms is needed. Although
recently the role of the marrow microenvironment
(MME) was established. If minor alteration occur
different phenotypes can be produced which can be
categorized as BMFs, these include: the myelodysplastic
syndromes (MDS; including hypocellular
MDS (hMDS), aplastic anemia (AA), inherited BMF
syndromes (IBMFs), large granular lymphocytosis
(LGL), pure red cell aplasia (PRCA), paroxysmal
nocturnal hemoglobinuria (PNH), and myeloproliferative
neoplasms (MPNs). Each of these shows
some degree of overlap; two disorders can coexist in
the same patient. . Conversely, some patients have
persistent blood cytopenias for which no explanation
is apparent, so-called idiopathic cytopenias of undetermined
significance (ICUS) with normal marrow
morphology and lack a known MDS-associated somatic
mutation or karyotypic abnormality. Despite
the complexity of abnormal proliferation, differentiation,
and maturation, the sum of the results of hematological
studies, genetic alterations, flow cytometry,
among others, can result in distinctive phenotypes,
which in most cases are classifiable. In recent years
the understanding of the molecular mechanisms
that can produce BMFs has advanced considerably
increasing the availability to distinguish among the
different subtypes of the BMFs . The identification of
genetic alterations that underlie marrow failure has
expanded markedly especially for Myelodysplastic
syndromes.(MDS). Molecular markers have begun
to be used to guide therapy and assess prognosis of
these and distinguish them from other BMFs, This
brief review will summarize the current state of diagnostic
resources to identify some of the different
disorders related to BMFs.
Key words: Bone Marrow Failure,
Aplastic Anemia,
Myelodysplastic Syndrome
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